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Arnold Munnich

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Anne Philippe; Nathalie Boddaert; Jean-Paul Bonnefont; Laurence Colleaux; ML Jacquemont; Valérie Malan; Arnold Munnich; Sylvie Odent; Valérie Cormier-Daire
Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.
Sylvain Hanein; Josseline Kaplan; Jean-Marc Masse; Arnold Munnich; Isabelle Perrault; Yves de Keyzer; Thierry Delaveau; Nathalie Delphin; Frédéric Devaux; Lucas Fares-Taie; Mathilde Garcia; Sylvie Gerber; Alain Schmitt; Valérie Serre; Jean-Michel Rozet
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.
Sophie Monnot; Arnold Munnich; Agnes Rotig; David C Samuels; alexandra benachi; Jean-Paul Bonnefont; Philippe Burlet; Josué Feingold; Frydman Nelly; René Frydman; Nadine Gigarel; Laetitia Hesters; Violaine Kerbrat; Frédéric Lamazou; Julie Steffann
Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.

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2013: Anne Philippe; Nathalie Boddaert; Jean-Paul Bonnefont; Laurence Colleaux; ML Jacquemont; Valérie Malan; Arnold Munnich; Sylvie Odent; Valérie Cormier-Daire
Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.
American journal of medical genetics. Part A 2013;161(6):1370-5.
2013: Sylvain Hanein; Josseline Kaplan; Jean-Marc Masse; Arnold Munnich; Isabelle Perrault; Yves de Keyzer; Thierry Delaveau; Nathalie Delphin; Frédéric Devaux; Lucas Fares-Taie; Mathilde Garcia; Sylvie Gerber; Alain Schmitt; Valérie Serre; Jean-Michel Rozet
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.
Biochimica et biophysica acta 2013;1830(6):3719-33.
2013: Sophie Monnot; Arnold Munnich; Agnes Rotig; David C Samuels; alexandra benachi; Jean-Paul Bonnefont; Philippe Burlet; Josué Feingold; Frydman Nelly; René Frydman; Nadine Gigarel; Laetitia Hesters; Violaine Kerbrat; Frédéric Lamazou; Julie Steffann
Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.
Human molecular genetics 2013;22(9):1867-72.
2013: Lucas Fares-Taie; Xavier GERARD; Sylvie Gerber; Sylvain Hanein; Josseline Kaplan; Stanislas LYONNET; Arnold Munnich; Patrick Nitschke; Ghislaine Plessis; Nicola Ragge; Clarisse Baumann; Christine Bole; Lionel Brétillon; Patrick Calvas; Nicolas Chassaing; Jill Clayton-Smith; Bénédicte Demeer; Margaux Serey; Valérie Serre; Eduardo Silva; Jean-Michel Rozet
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
American journal of human genetics 2013;92(2):265-70.
2013: Geneviève Baujat; Roseline Caumes; Albert David; Anne-Lise Delezoide; Anne Dieux-Coeslier; Claire Do Ngoc Thanh; Joyce El Hokayem; Brigitte Estournet; Christine Francannet; Céline Huber; Honorine Kayirangwa; Florence Lacaille; Muriel Le Bourgeois; Martine Le Merrer; Kim Hanh Le Quan Sang; valerie malan; Jelena Martinovic; Arnold Munnich; Rémi Salomon; Sabine Sigaudy; Valérie Cormier-Daire
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
Journal of medical genetics 2013;50(2):91-8.
2013: Orianne Philippe; Marlène Rio; Vassili Valayannopoulos; Hilde Van Esch; Jeanne Amiel; Nadia Bahi-Buisson; Geneviève Baujat; Nathalie Boddaert; Jean-Paul Bonnefont; Guy Froyen; Roseline Gesny; valerie malan; Arnold Munnich; Laurence Colleaux
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
European journal of human genetics : EJHG 2013;21(2):195-9.
2013: Céline Huber; Martine Le Merrer; Arnold Munnich; Patrick Nitschke; Joelle Roume; Heloísa G Santos; Stavit A Shalev; Andrea Superti-Furga; Deborah Bartholdi; Christine Bole-Feysot; Zvi Borochowitz; Denise P Cavalcanti; Anne-Lise Delezoide; Eissa Ali Faqeih; Amandine Frigo; Valérie Cormier-Daire
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
American journal of human genetics 2013;92(1):144-9.
2013: Anne-Sophie Jannot; Marine Masse-Morel; Arnold Munnich; Anna Pelet; Damien Sanlaville; Jeanne Amiel; Stacey Arnold; Nadege Bondurand; Salud Borrego; Isabella Ceccherini; Aravinda Chakravarti; Asma Chaoui; Françoise Clerget-Darpoux; Alexandra Henrion-Caude; Robert M W Hofstra; Stanislas LYONNET
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease.
PloS one 2013;8(5):e62519.
2013: Simonetta Bandiera; François Cartault; Muriel Girard; Elie Hatem; Anne-Sophie Jannot; Clemence Loiseau; Stanislas Lyonnet; Arnold Munnich; Laila Rifai; Alexandra Henrion-Caude
Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.
PloS one 2013;8(1):e54791.
2013: Carine Le Goff; Clémentine Mahaut; Anne Moncla; Arnold Munnich; Patrick Nitschke; Sylvie Odent; Armand Bottani; Berenice Doray; Laurence Faivre; Alice Goldenberg; Valérie Cormier-Daire
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.
Human mutation 2013;34(1):88-92.
2013: Vassili Valayannopoulos; Naziha Bakouh; Emilie Brulé; Allel Chabli; Pascale de Lonlay; Laurence Hubert; Fatna-Léa Makaci; Michel Mazzuca; Caroline Mellot-Draznieks; Arnold Munnich; Luc Nonnenmacher; Gabrielle Planelles; Gajja S Salomons; Hervé Toulhoat; Yves de Keyzer
Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.
Journal of inherited metabolic disease 2013;36(1):103-12.
2012: Florence Lorget; Emilie Mugniery; Arnold Munnich; Charles A O'Neill; Todd Oppeneer; Jeff Peng; Laurie S Tsuruda; Dan J Wendt; Sean Bell; Catherine Benoist-Lasselin; Sherry Bullens; Stuart Bunting; Federico Di Rocco; Nabil Kaci; Laurence Legeai-Mallet
Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia.
American journal of human genetics 2012;91(6):1108-14.
2012: Coralie Haudry; Zahra Assouline; Christine Bole-Feysot; Jean-Paul Bonnefont; Anais Brassier; Pascale de Lonlay; Valerie Malan; Arnold Munnich; Solenn Pruvost; Agnès Rötig; Anne-Sophie Lebre
Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Molecular genetics and metabolism 2012;107(4):700-4.
2012: Guntram Borck; Laurence Colleaux; Thomas E Dever; Peter Frommolt; Doron Gothelf; Adi Har-Zahav; Kay Hofmann; Joo-Ran Kim; Osnat Konen; Christian Kubisch; Aviva Mimouni-Bloch; Arnold Munnich; Gudrun Nürnberg; Peter Nürnberg; Charles E Schwartz; Byung-Sik Shin; Cindy Skinner; Pola Smirin-Yosef; Barbara Stiller; Meghna Thakur; Holger Thiele; Janine Altmüller; Lara Aschenbach; Lina Basel-Vanagaite
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Molecular cell 2012;48(4):641-6.
2012: Vanessa Vedrenne; Valérie Serre; Ivan Tarassov; Cecilia Altuzarra; Nathalie Boddaert; Florence Chretien; Pascale de Lonlay; Nina Entelis; Ali Gowher; Anne-Marie Mager-Heckel; Arnold Munnich; Patrick Nitschke; Agnès Rötig
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
American journal of human genetics 2012;91(5):912-8.
2012: Audrey Putoux; Anita Rauch; Albert Schinzel; Sophie Thomas; Michel Vekemans; Caroline Alby; Deborah Bartholdi; Philip L Beales; Nathalie Boddaert; Valérie Cormier-Daire; Nadia Elkhartoufi; Férechté Encha-Razavi; Laurence Faivre; Amale Ichkou; Rajesh Kannan; Nicole Laurent; Julie Litzler; Arnold Munnich; Sheela Nampoothiri; Tania Attié-Bitach
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
Journal of medical genetics 2012;49(11):713-20.
2012: Giulia Barcia; Nathalie Boddaert; Maile R Brown; Jean-Laurent Casanova; Haijun Chen; Roberta Cilio; Laurence Colleaux; Aline Deligniere; Isabelle Desguerre; Olivier Dulac; Matthew R Fleming; Valeswara-Rao Gazula; Leonard K Kaczmarek; Anna Kaminska; Jack Kronengold; Maeva Langouet; Arnold Munnich; Avinash Abhyankar; Patrick Nitschke; Rima Nabbout
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Nature genetics 2012;44(11):1255-9.
2012: Caroline Michot; Arnold Munnich; Heidi Peters; Ophry Pines; Shamima Rahman; Norma B Romero; Louis Viollet; Maya von der Hagen; Agnès Delahodde; Orly Elpeleg; Michelle Farrar; Emma Glamuzina; Amr Gouda; Laurence Hubert; Marc Jeanpierre; Edwin Kirk; Brian Kirmse; Pascal Laforet; Asmaa Mamoune; Suja Mathew; James McGill; Ian E Alexander; Magalie Barth; Soumeya Bekri; Pascale Benlian; Yves de Keyzer; Pascale de Lonlay
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
Journal of inherited metabolic disease 2012;35(6):1119-28.
2012: Mathilde Nizon; David Sillence; Beyhan Tuysuz; Yasemin Alanay; David Geneviève; Celine Huber; Pelin Ozlem Simsek Kiper; Arnold Munnich; Valérie Cormier-Daire
IMPAD1 mutations in two Catel-Manzke like patients.
American journal of medical genetics. Part A 2012;158A(9):2183-7.
2012: Isabelle Perrault; Olivier Roche; Valérie Serre; Eduardo Silva; Olivia Xerri; Xavier Zanlonghi; Patrick Calvas; Sabine Defoort-Delhemmes; Nathalie Delphin; Hélène Dollfus; Alice Duncombe; Catherine Edelson; Lucas Fares-Taie; Sylvie Gerber; Alice Goldenberg; Christian Hamel; Sylvain Hanein; Josseline Kaplan; Guylène Le Meur; Arnold Munnich; Michael Nicouleau; Patrick Nitschke; Jean-Michel Rozet
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Nature genetics 2012;44(9):975-7.
2012: Anne-Sophie Jannot; Francesca Lantieri; Arnold Munnich; Anna Pelet; Paul K H Tam; Joke B G M Verheij; Jeanne Amiel; Stacey Marie Arnold; Salud Borrego; Isabella Ceccherini; Aravinda Chakravarti; Françoise Clerget-Darpoux; Raquel M Fernandez; Mercè Garcia-Barcelo; Robert M W Hofstra; Stanislas LYONNET
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.
European journal of human genetics : EJHG 2012;20(9):917-20.
2012: Sophie Thomas; Annick Toutain; Michel Vekemans; Yves Ville; Mohamed Tahar Yacoubi; Caroline Alby; Marie-Anne Barthez; Bettina Bessières; Christine Bole-Feysot; Maryse Bonnière; Valérie Cormier-Daire; Albert David; Férechté Encha-Razavi; Dominique Gaillard; Colin A Johnson; Frédérique Jossic; Marine Legendre; Laurence Loeuillet; Stanislas LYONNET; Soumaya Mougou-Zerelli; Arnold Munnich; Patrick Nitschke; Sophie Saunier; Katarzyna Szymanska; Christel Thauvin-Robinet; Tania Attié-Bitach
TCTN3 mutations cause Mohr-Majewski syndrome.
American journal of human genetics 2012;91(2):372-8.
2012: Mathilde Nizon; Antonio Rossi; David Sillence; Beyhan Tuysuz; Merel C Van Maarle; Catheline Vilain; Ian Young; Klaus Zerres; Fabio De Leonardis; Julie Désir; Antonella Forlino; Mélanie Fradin; Harinder Gill; Marie T Greally; Céline Huber; Erkan Koparir; Carine Le Goff; Martine Le Merrer; Sara MacKay; Rodolphe Merrina; Geert Mortier; Jenny Morton; Arnold Munnich; Bassam Y Abu-Libdeh; Yasemin Alanay; Beate Albrecht; Lihadh Al-Gazali; Sarenur Yilmaz Basaran; Jill Clayton-Smith; Valérie Cormier-Daire
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Human mutation 2012;33(8):1261-6.
2012: Estelle Valerie Tenisch; Mônica Zilbovicius; Francis Brunelle; Pascale de Lonlay; Isabelle Desguerre; Benoît Funalot; David Grévent; Anne-Sophie Lebre; Arnold Munnich; Marlene Rio; Agnès Rötig; Nathalie Boddaert
Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.
Neurology 2012;79(4):391.
2012: Frydman Nelly; René Frydman; Barbara Girerd; Arnold Munnich; Gérald Simonneau; Julie Steffann; Marc Humbert
Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation.
The European respiratory journal 2012;39(6):1534-5.
2012: Emilie Mugniery; Arnold Munnich; Caroline Marty; Catherine Benoist-Lasselin; Romain Dacquin; Marie-Christine de Vernejoul; Valérie Geoffroy; Pierre Jurdic; Laurence Legeai-Mallet
An activating Fgfr3 mutation affects trabecular bone formation via a paracrine mechanism during growth.
Human molecular genetics 2012;21(11):2503-13.
2012: Z Assouline; Christine Barnerias; Christine Bole-Feysot; J P Bonnefont; C Bonnemains; Pascale de Lonlay; Isabelle Desguerre; C Guillermet; M Jambou; Arnold Munnich; M Rio; A Rötig; Julie Steffann; A S Lebre
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.
Biochimica et biophysica acta 2012;1822(6):1062-9.
2012: Isabelle Perrault; Christine Pietrement; Olivier Roche; Mustafa A M Salih; Sophie Saunier; Nora Shannon; Eduardo Silva; Mohammed Zahrate; Corinne Antignac; Heleen H Arts; Véronique Baudouin; Clarisse Baumann; Philip Beales; Karine Bigot; Albane A Bizet; Christine Bole-Feysot; Felicity Collins; Valérie Cormier-Daire; Nathalie Delphin; Emilie Filhol; Sylvie Gerber; Jamal Goumid; Sylvain Hanein; Josseline Kaplan; Martine Le Merrer; Arnold Munnich; Patrick Nitschke; Christophe Orssaud; Machteld M Oud; Jean-Michel Rozet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
American journal of human genetics 2012;90(5):864-70.
2012: Caroline Michot; Arnold Munnich; Patrick Nitschke; Caroline Thalassinos; Avinash Abhyankar; Genevieve Baujat; Jean-Laurent Casanova; Alice Duncombe; Philippe Flahaut; Alice Goldenberg; Anne-Marie Guerrot; Esther Kinning; Céline Klein; Carine Le Goff; Martine Le Merrer; Stanislas Lyonnet; Valérie Cormier-Daire
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.
American journal of human genetics 2012;90(4):740-5.
2012: Joyce El Hokayem; Marie Gonzales; Céline Huber; Diana Johnson; Martine Le Merrer; Annie Levy-Mozziconacci; Philippe Loget; Dominique Martin-Coignard; Jelena Martinovic; Geert R Mortier; Arnold Munnich; Marie-José Perez; Joelle Roume; Gioacchino Scarano; Jacqueline Aziza; Geneviève Baujat; Raymonde Bouvier; Denise P Cavalcanti; Felicity A Collins; Marie-Pierre Cordier; Adeline Couvé; Anne-Lise Delezoide; Valérie Cormier-Daire
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
Journal of medical genetics 2012;49(4):227-33.
2012: François Cartault; Pascale de Lonlay; Isabelle Desguerre; Michael Fähling; Josué Feingold; Alain Fourmaintraux; Emmanuelle Génin; Muriel Girard; Sylvain Hanein; Jean-Jacques Hoarau; Pascale Krejbich-Trotot; Stanislas Lyonnet; Patrick Munier; Arnold Munnich; Magali Naville; Michel Renouil; Diana Rodriguez; Jeanine Vellayoudom; Eric Westhof; Simonetta Bandiera; Edgar Benko; Marc Bintner; Nathalie Boddaert; Alexandra Henrion-Caude
Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy.
Proceedings of the National Academy of Sciences of the United States of America 2012;109(13):4980-5.
2012: Nathalie Delphin; Sylvain Hanein; Josseline Kaplan; Jean-Paul Moisan; Arnold Munnich; Patrick Nitschke; Solenn Pruvost; Olivier Roche; Dominique Bonneau; Jean-Paul Bonnefont; Christine Boyle; Lucas Fares Taie; Xavier Zanlonghi; Jean-Michel Rozet
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
European journal of human genetics : EJHG 2012;20(3):352-6.
2012: Louise Galmiche; Anne-Sophie Lebre; Arnold Munnich; Marlène Rio; Zahra Assouline; Marine Beinat; Nathalie Boddaert; Florence Chretien; Pascale de Lonlay; Ann Saada (Reisch); Valérie Serre; Ruthie Shenhav; Vanessa Vedrenne; Avraham Zeharia; Raïssa Zossou; Agnès Rötig
Toward genotype phenotype correlations in GFM1 mutations.
Mitochondrion 2012;12(2):242-7.
2012: Aurélie Jonquoy; Nabil Kaci; Laurent Le Corre; Yves Le Merrer; Florent Barbault; Catherine Benoist-Lasselin; Patricia Busca; Anne-Lise Girard; Emilie Mugniery; Arnold Munnich; Laurent Schibler; Laurence Legeai-Mallet
A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain-of-function Fgfr3 mouse model.
Human molecular genetics 2012;21(4):841-51.
2012: Sarah Boissel; Laurence Colleaux; Satoru Hashimoto; Arnold Munnich; Marlène Rio; Mohammed Zarhrate; Jean-Marc Egly
[Early gene expression dysregulation and intellectual disability].
Médecine sciences : M/S 2012;28(2):128-9.
2012: Xavier GERARD; Sylvain Hanein; Josseline Kaplan; Antoine Kichler; Arnold Munnich; Isabelle Perrault; Marlène Rio; Karine Bigot; Sabine Defoort-Delhemmes; Daniel Scherman; Eduardo Silva; Jean-Michel Rozet
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.
Molecular therapy. Nucleic acids 2012;1():e29.
2012: Aline Huguet; Fadia Medja; Friedrich Metzger; Arnold Munnich; Annie Nicole; Jack Puymirat; Alban Vignaud; Martín Baraibar; guillaume bassez; Valérie Decostre; Arnaud Ferry; Denis Furling; Mario Gomes-Pereira; Céline Guiraud-Dogan; Andreas Hoeflich; Jean-Yves Hogrel; Geneviève Gourdon
Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus.
PLoS genetics 2012;8(11):e1003043.
2012: Raphaël Teissier; Hubert Ythier; Chantal Stuckens; Gabor Szinnai; Aurore Carré; Mireille Castanet; Annick Clement; Jacques de BLIC; Ralph Epaud; loic Guillot; Juliane Leger; Melina Morandini; Arnold Munnich; Michel Polak
Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome.
Hormone research in pædiatrics 2012;77(3):146-51.
2012: Christelle Golzio; Emmanuelle Havis; Stanislas LYONNET; Arnold Munnich; Gregory Nuel; Michel Vekemans; Stéphane Zaffran; Candice Babarit; Philippe Daubas; Heather C Etchevers
ISL1 directly regulates FGF10 transcription during human cardiac outflow formation.
PloS one 2012;7(1):e30677.
2011: Sabina Benko; Atle Brendehaug; Ove Bruland; Patrick Callier; Michel David; Frédérique Dijoud; Laurence Faivre; Christopher Gordon; Vincent Harley; Gunnar Houge; Frédéric Huet; Audrey Labalme; Valerie Malan; Delphine Mallet; Anders Molven; Yves Morel; Arnold Munnich; Marc Nicolino; Damien Sanlaville; Rajini Sreenivasan; Christel Thauvin-Robinet; Sophie Thomas; Jeanne Amiel; Stanislas Lyonnet
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.
Journal of medical genetics 2011;48(12):825-30.
2011: F Lamazou; M Lelorch; Arnold Munnich; Serge Romana; Julie Steffann; Michel Vekemans; Jean-Paul Bonnefont; Philippe Burlet; Renato Fanchin; Frydman Nelly; Nadine Gigarel; Laetitia Hesters; Violaine Kerbrat; René Frydman
[Preimplantation diagnosis with HLA typing: birth of the first double hope child in France].
Journal de gynécologie, obstétrique et biologie de la reproduction 2011;40(7):682-6.
2011: Louise Galmiche; Anne-Sophie Lebre; Arnold Munnich; Patrick Nietschke; Marlène Rio; Zahra Assouline; Marine Beinat; Vladimir Benes; Nathalie Boddaert; Francis Brunelle; Dominique Chretien; Valérie Serre; Daniel Sidi; Agnès Rötig
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
Human mutation 2011;32(11):1225-31.
2011: Philippe Burlet; Frydman Nelly; R Frydman; Nadine Gigarel; Laetitia Hesters; Violaine Kerbrat; Arnold Munnich; J Amiel; C Steichen; Julie Steffann
Successful pre-implantation genetic diagnosis for Hirschsprung disease.
Clinical genetics 2011;80(4):403-5.
2011: Loïc de Pontual; Valérie Drouin; Laurence Faivre; David Geneviève; Alice Goldenberg; Alexandra Henrion-Caude; Stanislas LYONNET; Sylvie MANOUVRIER; Arnold Munnich; Myriam Oufadem; Arie Van Haeringen; Michel Vekemans; Andrea Ventura; Joana Alves Vidigal; Evelyn Yao; Patrick Callier; Sandra Cariou; Jeanne Amiel
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.
Nature genetics 2011;43(10):1026-30.
2011: Jennyfer Zerbib; Salomon Y Cohen; Josseline Kaplan; Jean-François Korobelnik; Nicolas Leveziel; Arnold Munnich; Nathalie Puche; Florence Richard; Jean-Michel Rozet; José Sahel; Eric H Souied
No association between the T280M polymorphism of the CX3CR1 gene and exudative AMD.
Experimental eye research 2011;93(4):382-6.
2011: Satoru Hashimoto; Arnold Munnich; Marlène Rio; Mohammed Zarhrate; Sarah Boissel; Jean-Marc Egly; Laurence Colleaux
MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.
Science (New York, N.Y.) 2011;333(6046):1161-3.
2011: Slaheddine Marrakchi; Arnold Munnich; Xue-Yuan Pei; Christian Pons; Anne Puel; Blair R Renshaw; Mourad Sahbatou; Valérie Serre; John E Sims; Jennifer E Towne; Hamida Turki; Jihen Zribi; Hervé Bachelez; Elodie Bal; Christine Bodemer; Jean-Laurent Casanova; Maya Chrabieh; Céline Cluzeau; Jason Douangpanya; Faiza Fakhfakh; Michel Favre; Josué Feingold; Sylvie Fraitag; Emmanuelle Genin; Philippe Guigue; Smail Hadj-Rabia; Nadia Mahfoudh; Hafedh Makni; Sourour Mansour; Asma Smahi
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.
The New England journal of medicine 2011;365(7):620-8.
2011: Rami Abou Jamra; Guntram Borck; Felix F Brockschmidt; Rebecca Buchert; Sebastian H Eck; Arif B Ekici; Elisabeth Graf; Arnold Munnich; Markus M Nöthen; Orianne Philippe; Annick Raas-Rothschild; Andre Reis; Tim M Strom; Laurence Colleaux
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
American journal of human genetics 2011;88(6):788-95.
2011: Slimane Allali; Carine Le Goff; Isabelle Pressac-Diebold; Gwendoline Pfennig; Clémentine Mahaut; Nathalie Dagoneau; Yasemin Alanay; Angela F Brady; Yanick J Crow; Koen Devriendt; Valérie Drouin-Garraud; Elisabeth Flori; David Geneviève; Raoul C Hennekam; Jane Hurst; Deborah Krakow; Martine Le Merrer; Klaske D Lichtenbelt; Sally A Lynch; Stanislas Lyonnet; Kay MacDermot; Sahar Mansour; André Megarbané; Heloisa G Santos; Miranda Splitt; Andrea Superti-Furga; Sheila Unger; Denise Williams; Arnold Munnich; Valérie Cormier-Daire
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
Journal of medical genetics 2011;48(6):417-21.
2011: Sérgio B Sousa; Karen Lambot-Juhan; Marlène Rio; Geneviève Baujat; Vicken Topouchian; Nadine Hanna; Martine Le Merrer; Francis Brunelle; Arnold Munnich; catherine boileau; Valérie Cormier-Daire
Expanding the skeletal phenotype of Loeys-Dietz syndrome.
American journal of medical genetics. Part A 2011;155A(5):1178-83.
2011: Julie Salomon; Yolanda Espinosa-Parrilla; Olivier Goulet; Wafa'a Al-Qabandi; Philippe Guigue; Danielle Canioni; Julie Bruneau; Fatema Alzahrani; Saleh Almuhsen; Nadine Cerf-Bensussan; Marc Jeanpierre; Nicole Brousse; Stanislas LYONNET; Arnold Munnich; Asma Smahi
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf.
European journal of medical genetics 2011;54(3):319-22.
2011: Marie Cognet; Agnés Nougayrede; valerie malan; Patrick Callier; Celia Cretolle; Laurence Faivre; David Genevieve; Alice Goldenberg; Delphine Heron; Sandra Mercier; Nicole Philip; Sabine Sigaudy; Alain Verloes; Sabine Sarnacki; Arnold Munnich; Michel Vekemans; Stanislas LYONNET; Heather Etchevers; Jeanne Amiel; Loïc de Pontual
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.
European journal of human genetics : EJHG 2011;19(5):602-6.
2011: Nadine Gigarel; Laetitia Hesters; David Samuels; Sophie Monnot; Philippe Burlet; Violaine Kerbrat; Frédéric Lamazou; alexandra benachi; René Frydman; Josué Feingold; Agnes Rotig; Arnold Munnich; Jean-Paul Bonnefont; Frydman Nelly; Julie Steffann
Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.
American journal of human genetics 2011;88(4):494-8.
2011: Julie Steffann; Philippe Burlet; Frydman Nelly; Nadine Gigarel; Laetitia Hesters; Violaine Kerbrat; Frédéric Lamazou; Arnold Munnich; René Frydman
[Extending preimplantation genetic diagnosis to HLA typing: the French exception].
Bulletin de l'Académie nationale de médecine 2011;195(4-5):1015-21; discussion 1021-2.
2011: René Frydman; Nadine Gigarel; Laetitia Hesters; Violaine Kerbrat; Fredéric Lamazou; Marc Le Lorch; Arnold Munnich; Serge Romana; Julie Steffann; Frydman Nelly; Jean-Paul Bonnefont; Philippe Burlet; Renato Fanchin; Michel Vekemans
[Ten years' experience of preimplantation genetic diagnosis in Paris: remaining obstacles and potential solutions].
Bulletin de l'Académie nationale de médecine 2011;195(4-5):1005-13; discussion 1013-4.
2011: Orit Reish; Céline Huber; Gheona Altarescu; Daphne Chapman-Shimshoni; Ephrat Levy-Lahad; Paul Renbaum; Maya Mashevich; Arnold Munnich; Valérie Cormier-Daire
A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX.
American journal of medical genetics. Part A 2011;155A(4):938-9.
2011: Loïc de Pontual; Olivier Delattre; Heather C Etchevers; Christopher T Gordon; Isabelle Janoueix-Lerosey; Dania Kettaneh; Eric Lachassinne; Melissa Lees; Stanislas Lyonnet; Julie Mollet; Arnold Munnich; Myriam Oufadem; Andy Petros; Michel Vekemans; Louise C Wilson; Laurent Balu; Nathalie Boddaert; Laurence Brugière; Jeanne Amiel
Germline gain-of-function mutations of ALK disrupt central nervous system development.
Human mutation 2011;32(3):272-6.
2011: Céline Huber; Arnold Munnich; Valerie Cormier-Daire
The 3M syndrome.
Best practice & research. Clinical endocrinology & metabolism 2011;25(1):143-51.
2011: Denise P Cavalcanti; Celine Huber; Kim-Hanh Le Quan Sang; Geneviève Baujat; Felicity Collins; Anne-Lise Delezoide; Nathalie Dagoneau; Martine Le Merrer; Jelena Martinovic; Marcos Fernando S Mello; Michel Vekemans; Arnold Munnich; Valerie Cormier-Daire
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.
Journal of medical genetics 2011;48(2):88-92.
2011: Simonetta Bandiera; Nicolas Cagnard; Dominique Chrétien; Muriel Girard; Sylvain Hanein; Stanislas LYONNET; Arnold Munnich; Silvia Rüberg; Alexandra Henrion-Caude
Nuclear outsourcing of RNA interference components to human mitochondria.
PloS one 2011;6(6):e20746.
2011: Sophie Monnot; Nadine Gigarel; David Samuels; Philippe Burlet; Laetitia Hesters; Nelly Frydman; René Frydman; Violaine Kerbrat; Benoit Funalot; Jelena Martinovic; alexandra benachi; Josué Feingold; Arnold Munnich; Jean-Paul Bonnefont; Julie Steffann
Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system.
Human mutation 2011;32(1):116-25.
2011: Céline Cluzeau; Smail Hadj-Rabia; Marguerite Jambou; Sourour Mansour; Philippe Guigue; Sahben Masmoudi; Elodie Bal; Nicolas Chassaing; Marie-Claire Vincent; Géraldine Viot; François Clauss; Marie-Cécile Manière; Steve Toupenay; Martine Le Merrer; Stanislas Lyonnet; Valérie Cormier-Daire; Jeanne Amiel; Laurence Faivre; Yves de Prost; Arnold Munnich; Jean-Paul Bonnefont; Christine Bodemer; Asma Smahi
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
Human mutation 2011;32(1):70-2.
2010: E Mbaya; B Oulès; C Caspersen; R Tacine; H Massinet; M Pennuto; D Chrétien; Arnold Munnich; Agnès Rötig; Rosario Rizzuto; G A Rutter; MOUNIA CHAMI; M Chami
Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency.
Cell death and differentiation 2010;17(12):1855-66.
2010: M Willems; D Geneviève; G Borck; C Baumann; G Baujat; E Bieth; P Edery; C Farra; M Gerard; D Héron; B Leheup; Martine Le Merrer; S Lyonnet; D Martin-Coignard; M Mathieu; C Thauvin-Robinet; Alain Verloes; L Colleaux; Arnold Munnich; Valérie Cormier-Daire
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Journal of medical genetics 2010;47(12):797-802.
2010: Julie Steffann; Sophie Monnot; Agnès Rötig; Arnold Munnich; Jean-Paul Bonnefont
[Nuclear transfer to prevent mitochondrial DNA diseases: myth or reality?].
Médecine sciences : M/S 2010;26(11):897-9.
2010: Michael C Kruer; Coro Paisan-Ruiz; Nathalie Boddaert; Moon Y Yoon; Hiroko Hama; Allison Gregory; Alessandro Malandrini; Randall L Woltjer; Arnold Munnich; Stephanie Gobin; Brenda J Polster; Silvia Palmeri; Simon Edvardson; John Hardy; Henry Houlden; Susan J Hayflick
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
Annals of neurology 2010;68(5):611-8.
2010: Stéphanie Pannier; Emilie Mugniery; Aurélie Jonquoy; Catherine Benoist-Lasselin; Thierry Odent; Jean-Philippe jais; Arnold Munnich; Laurence Legeai-Mallet
Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia.
Bone 2010;47(5):905-15.
2010: Alice Marques-Pinheiro; Marie Marduel; Jean-Pierre Rabès; Martine Devillers; Ludovic Villéger; Delphine Allard; Jean Weissenbach; Maryse Guerin; Yassine Zair; Danièle Erlich; Claudine Junien; Arnold Munnich; Michel Krempf; Marianne Abifadel; Jean Philippe Jaïs; catherine boileau; Mathilde Varret
A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.
European journal of human genetics : EJHG 2010;18(11):1236-42.
2010: Nathalie Boddaert; Isabelle Desguerre; Nadia Bahi-Buisson; S Romano; Vassili Valayannopoulos; Yoann Saillour; David J Seidenwurm; D Grevent; L Berteloot; A-S Lebre; M Zilbovicius; S Puget; Rémi Salomon; T Attie-Bitach; Arnold Munnich; F Brunelle; Pascale de Lonlay
Posterior fossa imaging in 158 children with ataxia.
Journal of neuroradiology. Journal de neuroradiologie 2010;37(4):220-30.
2010: Orit Reish; Céline Huber; Gheona Altarescu; Daphne Chapman-Shimshoni; Ephrat Levy-Lahad; Paul Renbaum; Maya Mashevich; Arnold Munnich; Valérie Cormier-Daire
Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks.
American journal of medical genetics. Part A 2010;152A(9):2230-5.
2010: Valérie Malan; Diana Rajan; Sophie Thomas; Adam C Shaw; Hélène Louis Dit Picard; Valérie Layet; Marianne Till; Arie van Haeringen; Geert Mortier; Sheela Nampoothiri; Silvija Puseljić; Laurence Legeai-Mallet; Nigel P Carter; Michel Vekemans; Arnold Munnich; Raoul C Hennekam; Laurence Colleaux; Valérie Cormier-Daire
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
American journal of human genetics 2010;87(2):189-98.
2010: M Rio; A S Lebre; Pascale de Lonlay; Vassili Valayannopoulos; Isabelle Desguerre; J-L Dufier; D Grévent; Mônica Zilbovicius; C Tréguier; F Brunelle; C de Baracé; J Kaplan; M A Espinase-Berrod; Christian Sainte-Rose; Stephanie PUGET; A Rotig; Arnold Munnich; Nathalie Boddaert
Mitochondrial ND5 mutations mimicking brainstem tectal glioma.
Neurology 2010;75(1):93.
2010: Caroline Michot; Laurence Hubert; Michèle Brivet; Linda De Meirleir; Vassili Valayannopoulos; Wolfgang Müller-Felber; Ramesh Venkateswaran; Hélène Ogier; Isabelle Desguerre; Cécilia Altuzarra; Elizabeth Thompson; Martin Smitka; Angela Huebner; Marie Husson; Rita Horvath; Patrick Chinnery; Frederic M Vaz; Arnold Munnich; Orly Elpeleg; Agnès Delahodde; Yves de Keyzer; Pascale de Lonlay
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.
Human mutation 2010;31(7):E1564-73.
2010: Miles D Thompson; Marjan M Nezarati; Gabriele Gillessen-Kaesbach; Peter Meinecke; Roberto Mendoza; Etienne Mornet; Isabelle Brun-Heath; Catherine Prost Squarcioni; Laurence Legeai-Mallet; Arnold Munnich; Roberto Mendoza-Londono; David E C Cole
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.
American journal of medical genetics. Part A 2010;152A(7):1661-9.
2010: Sandra El Sabbagh; Anne-Sophie Lebre; Nadia Bahi-Buisson; Pascale DeLonlay; Christine Soufflet; Nathalie Boddaert; Marlène Rio; Agnès Rötig; Olivier Dulac; Arnold Munnich; Isabelle Desguerre
Epileptic phenotypes in children with respiratory chain disorders.
Epilepsia 2010;51(7):1225-35.
2010: Vassili Valayannopoulos; Coralie Haudry; Valérie Serre; Magalie Barth; Nathalie Boddaert; Jean-Baptiste Arnoux; Valérie Cormier-Daire; Marlène Rio; Daniel Rabier; Anne Vassault; Arnold Munnich; Jean-Paul Bonnefont; Pascale de Lonlay; Agnès Rötig; Anne-Sophie Lebre
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.
Mitochondrion 2010;10(4):335-41.
2010: Philippe Burlet; Nadine Gigarel; Maryse Magen; Séverine Drunat; alexandra benachi; Laetitia Hesters; Arnold Munnich; Jean-Paul Bonnefont; Julie Steffann
Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy.
European journal of human genetics : EJHG 2010;18(4):505-8.
2010: C Jung; Nathalie Dagoneau; G Baujat; Martine Le Merrer; A David; M Di Rocco; B Hamel; André Mégarbané; andrea superti-furga; S Unger; Arnold Munnich; Valérie Cormier-Daire
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
Clinical genetics 2010;77(3):266-72.
2010: Or Kakhlon; William Breuer; Arnold Munnich; Ioav Cabantchik
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.
Canadian journal of physiology and pharmacology 2010;88(3):187-96.
2010: Sérgio B Sousa; Geneviéve Baujat; Véronique Abadie; Damien Bonnet; Daniel Sidi; Arnold Munnich; Deborah Krakow; Valérie Cormier-Daire
Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome?
American journal of medical genetics. Part A 2010;152A(3):539-46.
2010: Isabelle Perrault; Sylvain Hanein; Xavier GERARD; Nathalie Delphin; Lucas Fares-Taie; Sylvie Gerber; Valérie Pelletier; Emilie Mercé; Hélène Dollfus; Bernard Puech; Sabine Defoort-Dhellemmes; Michael D Petersen; Dimitrios Zafeiriou; Arnold Munnich; Josseline Kaplan; Olivier Roche; Jean-Michel Rozet
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Human mutation 2010;31(3):E1241-50.
2010: Marlène Rio; Valérie Malan; Sarah Boissel; Annick Toutain; Ghislaine Royer; Stéphanie Gobin; Nicole Morichon-Delvallez; Catherine Turleau; Jean-Paul Bonnefont; Arnold Munnich; Michel Vekemans; Laurence Colleaux
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
European journal of human genetics : EJHG 2010;18(3):285-90.
2010: Valérie Malan; Suzanne Chevallier; Gwendoline Soler; Christine Coubes; Didier Lacombe; Laurent Pasquier; Jean Soulier; Nicole Morichon-Delvallez; Catherine Turleau; Arnold Munnich; Serge Romana; Michel Vekemans; Valérie Cormier-Daire; Laurence Colleaux
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.
European journal of human genetics : EJHG 2010;18(2):227-32.
2010: Jennyfer Zerbib; Florence Richard; Nathalie Puche; Nicolas Leveziel; Salomon Y Cohen; Jean-François Korobelnik; José Sahel; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet; Eric H Souied
R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population.
Molecular vision 2010;16():1324-30.
2010: Celine Huber; Mélanie Fradin; Thomas Edouard; Martine Le Merrer; Yasemin Alanay; Daniela Bezerra Da Silva; Albert David; Hanan Hamamy; Liselotte van Hest; Allan M Lund; Jacques Michaud; Christine Oley; Chirag Patel; Anna Rajab; David L Skidmore; Helen Stewart; Maité Tauber; Arnold Munnich; Valérie Cormier-Daire
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.
Human mutation 2010;31(1):20-6.
2010: Samuel Bellais; Carine Le Goff; Nathalie Dagoneau; Arnold Munnich; Valérie Cormier-Daire
In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome.
European journal of human genetics : EJHG 2010;18(1):130-2.
2009: Orianne Philippe; Marlène Rio; Astrid Carioux; Jean-Marc Plaza; Philippe Guigue; Florence Molinari; Nathalie Boddaert; Christine Bole-Feysot; Patrick Nitschke; Asma Smahi; Arnold Munnich; Laurence Colleaux
Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation.
American journal of human genetics 2009;85(6):903-8.
2009: Elena Maria Manea; Guy Leverger; Francoise Bellmann; Popp Alina Stanescu; Adam Mircea; Anne-Sophie Lèbre; Agnes Rötig; Arnold Munnich
Pearson syndrome in the neonatal period: two case reports and review of the literature.
Journal of pediatric hematology/oncology 2009;31(12):947-51.
2009: Céline Huber; Bénédicte Oulès; Marta Bertoli; MOUNIA CHAMI; Mélanie Fradin; Yasemin Alanay; Lihadh I Al-Gazali; Margreet G E M Ausems; Pierre Bitoun; Denise P Cavalcanti; Alexander Krebs; Martine Le Merrer; Geert Mortier; Yousef Shafeghati; andrea superti-furga; Stephen P Robertson; Carine Le Goff; Andrea Onetti Muda; Patrizia Paterlini-Bréchot; Arnold Munnich; Valérie Cormier-Daire
Identification of CANT1 mutations in Desbuquois dysplasia.
American journal of human genetics 2009;85(5):706-10.
2009: Claire Beneteau; Hélène Cavé; Anne Moncla; Nathalie Dorison; Arnold Munnich; Alain Verloes; Bruno Leheup
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
European journal of human genetics : EJHG 2009;17(10):1216-21.
2009: Loïc de Pontual; Norann Zaghloul; Sophie Thomas; Erica E Davis; David M McGaughey; Hélène Dollfus; Clarisse Baumann; Seneca L Bessling; Candice Babarit; Anna Pelet; Cecilia Gascue; Philip L Beales; Arnold Munnich; Stanislas LYONNET; Heather C Etchevers; Tania Attie-Bitach; Jose L Badano; Andy McCallion; Nicholas Katsanis; Jeanne Amiel
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(33):13921-6.
2009: Sarah Boissel; Orit Reish; Karine Proulx; Hiroko Kawagoe-Takaki; Barbara Sedgwick; Giles S H Yeo; David Meyre; Christelle Golzio; Florence Molinari; Noman Kadhom; Heather C Etchevers; Vladimir Saudek; I Sadaf Farooqi; philippe froguel; Tomas Lindahl; Stephen O'Rahilly; Arnold Munnich; Laurence Colleaux
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.
American journal of human genetics 2009;85(1):106-11.
2009: N Brahimi; M Jambou; Emmanuelle Sarzi; Valérie Serre; Nathalie Boddaert; S Romano; Pascale de Lonlay; Abdelhamid Slama; Arnold Munnich; Agnès Rötig; Jean-Paul Bonnefont; A S Lebre
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Molecular genetics and metabolism 2009;97(3):221-6.
2009: Esther Leshinsky-Silver; Anne-Sophie Lebre; Limor Minai; Ann Saada (Reisch); Julie Steffann; Sarit Cohen; Agnès Rötig; Arnold Munnich; Dorit Lev; Tally Lerman-Sagie
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.
Molecular genetics and metabolism 2009;97(3):185-9.
2009: Yves de Keyzer; Vassili Valayannopoulos; Jean-François Benoist; Frédéric Batteux; Florence Lacaille; Laurence Hubert; Dominique Chrétien; Bernadette Chadefeaux-Vekemans; Patrick Niaudet; Guy Touati; Arnold Munnich; Pascale de Lonlay
Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria.
Pediatric research 2009;66(1):91-5.
2009: Abdelkrim Saadi; Guntram Borck; Nathalie Boddaert; Mohamed Chahine Chekkour; Belaïd Imessaoudene; Arnold Munnich; Laurence Colleaux; Malika Chaouch
Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.
European journal of medical genetics 2009;52(4):180-4.
2009: Marianne Abifadel; Jean-Pierre Rabès; Sélim Jambart; Georges Halaby; Marie-Hélène Gannagé-Yared; Antoine Sarkis; Ghada Beaino; Mathilde Varret; Nabiha Salem; Sandra Corbani; Hermine Aydénian; Claudine Junien; Arnold Munnich; catherine boileau
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
Human mutation 2009;30(7):E682-91.
2009: Stéphanie Pannier; Jelena Martinovic; Solange Heuertz; Anne-Lise Delezoide; Arnold Munnich; Laurent Schibler; Valérie Serre; Laurence Legeai-Mallet
Thanatophoric dysplasia caused by double missense FGFR3 mutations.
American journal of medical genetics. Part A 2009;149A(6):1296-301.
2009: Nathalie Dagoneau; Marie Goulet; David Geneviève; Yves Sznajer; Jelena Martinovic; Sarah Smithson; Céline Huber; Geneviève Baujat; Elisabeth Flori; Laura Tecco; Denise Cavalcanti; Anne-Lise Delezoide; Valérie Serre; Martine Le Merrer; Arnold Munnich; Valérie Cormier-Daire
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
American journal of human genetics 2009;84(5):706-11.
2009: Stéphanie Tomé; Ian Holt; Winfried Edelmann; Glenn E Morris; Arnold Munnich; Christopher E Pearson; Geneviève Gourdon
MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice.
PLoS genetics 2009;5(5):e1000482.
2009: Sophie Monnot; Valérie Serre; Bernadette Chadefaux-Vekemans; Joelle Aupetit; S Romano; Pascale de Lonlay; Jean-Marie Rival; Arnold Munnich; Julie Steffann; Jean-Paul Bonnefont
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
Human mutation 2009;30(5):734-40.
2009: Sylvain Hanein; Isabelle Perrault; Olivier Roche; Sylvie Gerber; Noman Khadom; Marlène Rio; Nathalie Boddaert; Marc Jean-Pierre; Nora Brahimi; Valérie Serre; Dominique Chretien; Nathalie Delphin; Lucas Fares-Taie; Sahran Lachheb; Agnès Rotig; Françoise Meire; Arnold Munnich; Jean-Louis Dufier; Josseline Kaplan; Jean-Michel Rozet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
American journal of human genetics 2009;84(4):493-8.
2009: Vassili Valayannopoulos; Laurence Hubert; J F Benoist; S Romano; J B Arnoux; Dominique Chrétien; Josseline Kaplan; F Fakhouri; Daniel Rabier; Agnès Rötig; A S Lebre; Arnold Munnich; Yves de Keyzer; Pascale de Lonlay
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).
Journal of inherited metabolic disease 2009;32(2):159-62.
2009: Loïc de Pontual; Yves Mathieu; Christelle Golzio; Marlène Rio; Valérie Malan; Nathalie Boddaert; Christine Soufflet; Capucine Picard; Anne Durandy; Angus Dobbie; Delphine Heron; Bertrand Isidor; Jacques Motte; Ruth Newburry-Ecob; Laurent Pasquier; Marc Tardieu; Géraldine Viot; Francis Jaubert; Arnold Munnich; Laurence Colleaux; Michel Vekemans; Heather Etchevers; Stanislas Lyonnet; Jeanne Amiel
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
Human mutation 2009;30(4):669-76.
2009: Marianne Abifadel; Jean-Pierre Rabès; Martine Devillers; Arnold Munnich; Danièle Erlich; Claudine Junien; Mathilde Varret; catherine boileau
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
Human mutation 2009;30(4):520-9.
2009: Stéphanie Pannier; Vincent Couloigner; Nadia Messaddeq; Monique Elmaleh-Bergès; Arnold Munnich; Raymond Romand; Laurence Legeai-Mallet
Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia.
Biochimica et biophysica acta 2009;1792(2):140-7.
2009: Delphine Trochet; Yves Mathieu; Loïc de Pontual; Ravi Savarirayan; Arnold Munnich; Jean-François Brunet; Stanislas LYONNET; Christo Goridis; Jeanne Amiel
In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.
Human mutation 2009;30(2):E421-31.
2009: Laurent Schibler; Linda Gibbs; Catherine Benoist-Lasselin; Charles Decraene; Jelena Martinovic; Philippe Loget; Anne-Lise Delezoide; Marie Gonzales; Arnold Munnich; Jean-Philippe jais; Laurence Legeai-Mallet
New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling.
PloS one 2009;4(10):e7633.
2009: Jennyfer Zerbib; Johanna M Seddon; Florence Richard; Robyn Reynolds; Nicolas Leveziel; Pascale Benlian; Patrick Borel; Josué Feingold; Arnold Munnich; Gisele SOUBRANE; Josseline Kaplan; Jean-Michel Rozet; Eric H Souied
rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration.
PloS one 2009;4(10):e7341.
2009: Arnold Munnich; Pascale de Lonlay; Agnès Rötig; Pierre Rustin
[Mitochondrial disorders].
Bulletin de l'Académie nationale de médecine 2009;193(1):19-41; discussion 41-3.
2009: Nathalie Boddaert; Mônica Zilbovicius; Anne Philipe; Laurence Robel; Marie Bourgeois; Catherine Barthélemy; David Seidenwurm; Isabelle Meresse; Laurence Laurier; Isabelle Desguerre; Nadia Bahi-Buisson; Francis Brunelle; Arnold Munnich; Yves Samson; Marie-Christine Mouren; Nadia Chabane
MRI findings in 77 children with non-syndromic autistic disorder.
PloS one 2009;4(2):e4415.
2008: Or Kakhlon; Hila Manning; William Breuer; Naomi Melamed-Book; Chunye Lu; Gino Cortopassi; Arnold Munnich; Ioav Cabantchik
Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation.
Blood 2008;112(13):5219-27.
2008: Mathieu Clément-Ziza; Arnold Munnich; Stanislas LYONNET; Francis Jaubert; Claude Besmond
Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions.
RNA (New York, N.Y.) 2008;14(12):2698-704.
2008: Loïc de Pontual; Delphine Trochet; Sophie Caillat-Zucman; Othman A Abou Shenab; Pierre Bougneres; Yanick Crow; Steve Cunningham; Blandine Esteva; Lada Cindro Heberle; Juliane Leger; Graziella Pinto; Michel Polak; Magdy Helmy Shafik; Christian Straus; Ha Trang; Arnold Munnich; Stanislas LYONNET; Isabelle Desguerre; Jeanne Amiel
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.
Pediatric research 2008;64(6):689-94.
2008: Simone Gilgenkrantz; Arnold Munnich; Marie Louise Briard; Martine Le Merrer; JOSUE FEINGOLD; Jean-François Mattei
[Jean Frézal, and the emergence of medical genetics].
Médecine sciences : M/S 2008;24(11):991-6.
2008: Sophie Thomas; Marie Thomas; Patrick Wincker; Candice Babarit; Puting Xu; Marcy C Speer; Arnold Munnich; Stanislas LYONNET; Michel Vekemans; Heather C Etchevers
Human neural crest cells display molecular and phenotypic hallmarks of stem cells.
Human molecular genetics 2008;17(21):3411-25.
2008: Arnold Munnich
Is genetics inhumane?
Journal of medical genetics 2008;45(10):632-4.
2008: Arnold Munnich
Casting an eye on the Krebs cycle.
Nature genetics 2008;40(10):1148-9.
2008: Damiano Panelli; Vittoria Petruzzella; Rita Vitale; Domenico De Rasmo; Arnold Munnich; Agnès Rötig; Sergio Papa
The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations.
Biochimie 2008;90(10):1452-60.
2008: Carine Le Goff; Fanny Morice-Picard; Nathalie Dagoneau; Lauren W Wang; Claire Perrot; Yanick J Crow; Florence Bauer; Elisabeth Flori; Catherine Prost-Squarcioni; Deborah Krakow; Gaoxiang Ge; Daniel S Greenspan; Damien Bonnet; Martine Le Merrer; Arnold Munnich; Suneel S Apte; Valérie Cormier-Daire
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.
Nature genetics 2008;40(9):1119-23.
2008: Anne Philippe; Nathalie Boddaert; Laurence Vaivre-Douret; Laurence Robel; Laurent Danon-Boileau; valerie malan; Marie-Christine De Blois; Delphine Heron; Laurence Colleaux; Bernard Golse; Monica Zilbovicius; Arnold Munnich
Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood.
Pediatrics 2008;122(2):e376-82.
2008: Agnès Kamoun-Goldrat; Jelena Martinovic; Julien Saada; Pascale Sonigo-Cohen; Ferechte Razavi; Arnold Munnich; Martine Le Merrer
Prenatal cortical hyperostosis with COL1A1 gene mutation.
American journal of medical genetics. Part A 2008;146A(14):1820-4.
2008: Agnès Kamoun-Goldrat; Stéphanie Pannier; Céline Huber; Georges Finidori; Arnold Munnich; Valérie Cormier-Daire; Martine Le Merrer
A new osteogenesis imperfecta with improvement over time maps to 11q.
American journal of medical genetics. Part A 2008;146A(14):1807-14.
2008: Guntram Borck; Anahi Mollà-Herman; Nathalie Boddaert; Férechté Encha-Razavi; Anne Philippe; Laurence Robel; Isabelle Desguerre; Francis Brunelle; Alexandre Benmerah; Arnold Munnich; Laurence Colleaux
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.
Human mutation 2008;29(7):966-74.
2008: Florence Molinari; François Foulquier; Patrick S Tarpey; Willy Morelle; Sarah Boissel; Jon Teague; Sarah Edkins; P Andrew Futreal; Michael R Stratton; Gillian Turner; Gert Matthijs; Jozef Gecz; Arnold Munnich; Laurence Colleaux
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.
American journal of human genetics 2008;82(5):1150-7.
2008: Delphine Trochet; Loïc de Pontual; Maria Helena Estêvao; Yves Mathieu; Arnold Munnich; JOSUE FEINGOLD; Christo Goridis; Stanislas LYONNET; Jeanne Amiel
Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).
Human mutation 2008;29(5):770.
2008: Francesca Fusco; Alessandra Pescatore; Elodie Bal; Aida Ghoul; Mariateresa Paciolla; Maria Brigida Lioi; Michele D'Urso; Smail Hadj Rabia; Christine Bodemer; Jean-Paul Bonnefont; Arnold Munnich; Maria Giuseppina Miano; Asma Smahi; Matilde Valeria Ursini
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Human mutation 2008;29(5):595-604.
2008: Limor Minai; Jelena Martinovic; Dominique Chretien; Françoise Dumez; Férechté Razavi; Arnold Munnich; Agnès Rötig
Mitochondrial respiratory chain complex assembly and function during human fetal development.
Molecular genetics and metabolism 2008;94(1):120-6.
2008: Delphine Trochet; Loïc de Pontual; Christian Straus; David Gozal; Ha Trang; Pierre Landrieu; Arnold Munnich; Stanislas LYONNET; Claude Gaultier; Jeanne Amiel
PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.
American journal of respiratory and critical care medicine 2008;177(8):906-11.
2008: Muriel Girard; Emmanuel Jacquemin; Arnold Munnich; Stanislas LYONNET; Alexandra Henrion-Caude
miR-122, a paradigm for the role of microRNAs in the liver.
Journal of hepatology 2008;48(4):648-56.
2008: Jean Bastin; Flore Aubey; Agnès Rötig; Arnold Munnich; Fatima Djouadi
Activation of peroxisome proliferator-activated receptor pathway stimulates the mitochondrial respiratory chain and can correct deficiencies in patients' cells lacking its components.
The Journal of clinical endocrinology and metabolism 2008;93(4):1433-41.
2008: Julie Mollet; Agnès Delahodde; Valérie Serre; Dominique Chretien; Dimitri Schlemmer; Anne Lombes; Nathalie Boddaert; Isabelle Desguerre; Pascale de Lonlay; Hélène Ogier de Baulny; Arnold Munnich; Agnès Rötig
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
American journal of human genetics 2008;82(3):623-30.
2008: David Geneviève; VALERIE PROULLE; Bertrand Isidor; Samuel Bellais; Valérie Serre; Fatima Djouadi; Capucine Picard; Capucine Vignon-Savoye; Brigitte Bader-Meunier; Stéphane Blanche; Marie-Christine de Vernejoul; Laurence Legeai-Mallet; Anne-Marie Fischer; Martine Le Merrer; Marie Dreyfus; Pascale Gaussem; Arnold Munnich; Valérie Cormier-Daire
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
Nature genetics 2008;40(3):284-6.
2008: Yang-Sung Sohn; William Breuer; Arnold Munnich; Ioav Cabantchik
Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications.
Blood 2008;111(3):1690-9.
2008: S Romano; D Samara; H Crosnier; Vassili Valayannopoulos; Michel Polak; Dominique Chrétien; Agnès Rötig; Arnold Munnich; R Brauner; Pascale de Lonlay
Variable outcome of growth hormone administration in respiratory chain deficiency.
Molecular genetics and metabolism 2008;93(2):195-9.
2008: Caroline Schluth; Roselyne Gesny; Guntram Borck; Richard Redon; Véronique Abadie; Pascale Kleinfinger; Arnold Munnich; Stanislas LYONNET; Laurence Colleaux
New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation.
American journal of medical genetics. Part A 2008;146A(1):93-6.
2008: Jeanne Amiel; E Sproat-Emison; Mercè Garcia-Barcelo; Francesca Lantieri; Grzegorz Burzynski; Salud Borrego; Anna Pelet; Stacey Marie Arnold; Xiaoping Miao; Paola Griseri; A S Brooks; Guillermo Antinolo; Loïc de Pontual; M Clement-Ziza; Arnold Munnich; Carl S Kashuk; K West; K K-Y Wong; Stanislas LYONNET; Aravinda Chakravarti; Paul K H Tam; Isabella Ceccherini; Robert M W Hofstra; R Fernandez
Hirschsprung disease, associated syndromes and genetics: a review.
Journal of medical genetics 2008;45(1):1-14.
2008: Nathalie Boddaert; S Romano; B Funalot; Marlène Rio; Emmanuelle Sarzi; A S Lebre; Nadia Bahi-Buisson; Vassili Valayannopoulos; Isabelle Desguerre; David J Seidenwurm; Francis Brunelle; F Brami-Zylberberg; Agnès Rötig; Arnold Munnich; Pascale de Lonlay
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.
Molecular genetics and metabolism 2008;93(1):85-8.
2008: Sylvain Hanein; Isabelle Perrault; Sylvie Gerber; Nathalie Delphin; David Benezra; Stavit A Shalev; Rivka Carmi; Josué Feingold; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet; Marc Jeanpierre
Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example.
European journal of human genetics : EJHG 2008;16(1):115-23.
2007: Sylvie Gerber; Sylvain Hanein; Isabelle Perrault; Nathalie Delphin; nisrine aboussair; Corinne Leowski; Jean-Louis Dufier; Olivier Roche; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.
Human mutation 2007;28(12):1245.
2007: Emmanuelle Sarzi; Steffi Goffart; Valérie Serre; Dominique Chrétien; Abdelhamid Slama; Arnold Munnich; Johannes N Spelbrink; Agnès Rötig
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.
Annals of neurology 2007;62(6):579-87.
2007: Loïc de Pontual; Delphine Trochet; Franck Bourdeaut; Sophie Thomas; Heather C Etchevers; Agnès Chompret; Véronique Minard; Dominique Valteau; Laurence Brugieres; Arnold Munnich; Olivier Delattre; Stanislas LYONNET; Isabelle Janoueix-Lerosey; Jeanne Amiel
Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma.
European journal of cancer (Oxford, England : 1990) 2007;43(16):2366-72.
2007: Delphine Trochet; Loïc de Pontual; Boris Keren; Arnold Munnich; Michel Vekemans; Stanislas LYONNET; Jeanne Amiel
Polyalanine expansions might not result from unequal crossing-over.
Human mutation 2007;28(10):1043-4.
2007: Julie Steffann; Nadine Gigarel; Johanna Corcos; M Bonnière; Férechté Encha-Razavi; Martine Sinico; S Prevot; Yves Dumez; A Yamgnane; R Frydman; Arnold Munnich; Jean-Paul Bonnefont
Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome.
Journal of medical genetics 2007;44(10):664-9.
2007: Sophie Lebon; Limor Minai; Dominique Chretien; Johanna Corcos; Valérie Serre; Noman Kadhom; Julie Steffann; Jean-Yves Pauchard; Arnold Munnich; Jean-Paul Bonnefont; Agnès Rötig
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.
Molecular genetics and metabolism 2007;92(1-2):104-8.
2007: François X Coudé; Claire Mignot; Stanislas LYONNET; Arnold Munnich
Early grade repetition and inattention associated with neurofibromatosis type 1.
Journal of attention disorders 2007;11(2):101-5.
2007: Loïc de Pontual; Anna Pelet; M Clement-Ziza; Delphine Trochet; Stylianos Antonarakis; Tania Attie-Bitach; Philip L Beales; J-L Blouin; Florence Dastot-Le Moal; Hélène Dollfus; Michel Goossens; Nicholas Katsanis; Renaud Touraine; JOSUE FEINGOLD; Arnold Munnich; Stanislas LYONNET; Jeanne Amiel
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.
Human mutation 2007;28(8):790-6.
2007: Isabelle Maystadt; René Rezsöhazy; Martine Barkats; Sandra Duque; Pascal Vannuffel; Sophie Remacle; Barbara Lambert; Mustapha Najimi; Etienne Sokal; Arnold Munnich; Louis Viollet; Christine Verellen-Dumoulin
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
American journal of human genetics 2007;81(1):67-76.
2007: Nathalie Boddaert; Kim Hanh Le Quan Sang; Agnès Rötig; Anne Leroy-Willig; Serge Gallet; Francis Brunelle; Daniel Sidi; Jean-Christophe Thalabard; Arnold Munnich; Ioav Cabantchik
Selective iron chelation in Friedreich ataxia: biologic and clinical implications.
Blood 2007;110(1):401-8.
2007: E Bal; Lekbir Baala; C Cluzeau; F El Kerch; Karim Ouldim; Smaïl Hadj-Rabia; Christine Bodemer; Arnold Munnich; Gilles Courtois; abdelaziz sefiani; Asma Smahi
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.
Human mutation 2007;28(7):703-9.
2007: Catherine Benoist-Lasselin; Linda Gibbs; Solange Heuertz; Thierry Odent; Arnold Munnich; Laurence Legeai-Mallet
Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: an in vitro model to study chondrodysplasias.
FEBS letters 2007;581(14):2593-8.
2007: Christelle Golzio; Jelena Martinovic-Bouriel; Sophie Thomas; Soumaya Mougou-Zrelli; Bettina Grattagliano-Bessieres; Maryse Bonniere; Sophie Delahaye; Arnold Munnich; Férechté Encha-Razavi; Stanislas LYONNET; Michel Vekemans; Tania Attie-Bitach; Heather C Etchevers
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.
American journal of human genetics 2007;80(6):1179-87.
2007: Alice Bourdon; Limor Minai; Valérie Serre; Jean-Philippe jais; Emmanuelle Sarzi; Sophie Aubert; Dominique Chrétien; Pascale de Lonlay; Véronique Paquis-Flucklinger; Hirofumi Arakawa; Yusuke Nakamura; Arnold Munnich; Agnès Rötig
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
Nature genetics 2007;39(6):776-80.
2007: Agnès Rötig; Julie Mollet; Marlène Rio; Arnold Munnich
Infantile and pediatric quinone deficiency diseases.
Mitochondrion 2007;7 Suppl():S112-21.
2007: Emmanuelle Sarzi; Alice Bourdon; Dominique Chrétien; Mohamed Zarhrate; Johanna Corcos; Abdelhamid Slama; Valérie Cormier-Daire; Pascale de Lonlay; Arnold Munnich; Agnès Rötig
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.
The Journal of pediatrics 2007;150(5):531-4, 534.e1-6.
2007: Jeanne Amiel; Marlène Rio; Loïc de Pontual; Richard Redon; valerie malan; Nathalie Boddaert; Perrine Plouin; Nigel P Carter; Stanislas LYONNET; Arnold Munnich; Laurence Colleaux
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
American journal of human genetics 2007;80(5):988-93.
2007: Nathalie Dagoneau; S Bellais; Patricia Blanchet; Pierre Sarda; Lihadh Al-Gazali; M Di Rocco; Céline Huber; F Djouadi; C Le Goff; Arnold Munnich; Valérie Cormier-Daire
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.
American journal of human genetics 2007;80(5):966-70.
2007: Mario Gomes-Pereira; Laurent Foiry; Annie Nicole; Aline Huguet; Claudine Junien; Arnold Munnich; Geneviève Gourdon
CTG trinucleotide repeat "big jumps": large expansions, small mice.
PLoS genetics 2007;3(4):e52.
2007: Lekbir Baala; Sylvain Briault; Heather C Etchevers; Frédéric Laumonnier; Abdelhafid Natiq; Jeanne Amiel; Nathalie Boddaert; Capucine Picard; Aziza Sbiti; Abdellah Asermouh; Tania Attié-Bitach; Férechté Encha-Razavi; Arnold Munnich; abdelaziz sefiani; Stanislas LYONNET
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
Nature genetics 2007;39(4):454-6.
2007: Isabelle Perrault; Nathalie Delphin; Sylvain Hanein; Sylvie Gerber; Jean-Louis Dufier; Olivier Roche; Sabine Defoort-Dhellemmes; Hélène Dollfus; Elisa Fazzi; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Human mutation 2007;28(4):416.
2007: Sophie Lebon; Diana Rodriguez; Delphine Bridoux; Amal Zerrad; Agnès Rötig; Arnold Munnich; Alain Legrand; Abdelhamid Slama
A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.
Molecular genetics and metabolism 2007;90(4):379-82.
2007: Julie Mollet; Irina Giurgea; Dimitri Schlemmer; Gustav Dallner; Dominique Chretien; Agnès Delahodde; Delphine Bacq; Pascale de Lonlay; Arnold Munnich; Agnès Rötig
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
The Journal of clinical investigation 2007;117(3):765-72.
2007: Guntram Borck; Mohamed Zarhrate; Jean-Paul Bonnefont; Arnold Munnich; Valérie Cormier-Daire; Laurence Colleaux
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
Human mutation 2007;28(2):205-6.
2007: Lina Basel-Vanagaite; Anna Pelet; Zvi Steiner; Arnold Munnich; Yoram Rozenbach; Mordechai Shohat; Stanislas LYONNET
Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease.
European journal of human genetics : EJHG 2007;15(2):242-5.
2007: Lekbir Baala; Stephane Romano; Rana Khaddour; Sophie Saunier; Ursula M Smith; Sophie Audollent; Catherine Ozilou; Laurence Faivre; Nicole Laurent; Bernard Foliguet; Arnold Munnich; Stanislas LYONNET; Rémi Salomon; Férechté Encha-Razavi; Marie-Claire Gubler; Nathalie Boddaert; Pascale de Lonlay; Colin A Johnson; Michel Vekemans; Corinne Antignac; Tania Attie-Bitach
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
American journal of human genetics 2007;80(1):186-94.
2007: Emmanuelle Sarzi; Michael D Brown; Sophie Lebon; Dominique Chretien; Arnold Munnich; Agnès Rotig; Vincent Procaccio
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
American journal of medical genetics. Part A 2007;143(1):33-41.
2007: Valérie Pelletier; Marguerite Jambou; Nathalie Delphin; Elena Zinovieva; Morgane Stum; Nadine Gigarel; Hélène Dollfus; Christian Hamel; Annick Toutain; Jean-Louis Dufier; Olivier Roche; Arnold Munnich; Jean-Paul Bonnefont; Josseline Kaplan; Jean-Michel Rozet
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
Human mutation 2007;28(1):81-91.
2006: Dominique Ducroq; Stavit A Shalev; Aviv Habib; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy.
European journal of human genetics : EJHG 2006;14(12):1269-73.
2006: ML Jacquemont; Damien Sanlaville; Richard Redon; Odile Raoul; Valérie Cormier-Daire; Stanislas LYONNET; Jeanne Amiel; Martine Le Merrer; D Heron; Marie-Christine De Blois; Marguerite Prieur; Michel Vekemans; Nigel P Carter; Arnold Munnich; Laurence Colleaux; Anne Philippe
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders.
Journal of medical genetics 2006;43(11):843-9.
2006: Philippe Burlet; Frydman Nelly; Nadine Gigarel; Violaine Kerbrat; Gérard Tachdjian; Estelle Feyereisen; Jean-Paul Bonnefont; René Frydman; Arnold Munnich; Julie Steffann
Multiple displacement amplification improves PGD for fragile X syndrome.
Molecular human reproduction 2006;12(10):647-52.
2006: Ali Saker; alexandra benachi; Jean-Paul Bonnefont; Arnold Munnich; Yves Dumez; Bernard Lacour; Patrizia Paterlini-Brechot
Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosis.
Prenatal diagnosis 2006;26(10):906-16.
2006: C Bouchet; Julie Steffann; Johanna Corcos; S Monnot; V Paquis; Agnès Rötig; Sophie Lebon; P Levy; Ghislaine Royer; Irina Giurgea; Nadine Gigarel; alexandra benachi; Yves Dumez; Arnold Munnich; Jean-Paul Bonnefont
Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development.
Journal of medical genetics 2006;43(10):788-92.
2006: François X Coudé; Claire Mignot; Stanislas LYONNET; Arnold Munnich
Academic impairment is the most frequent complication of neurofibromatosis type-1 (NF1) in children.
Behavior genetics 2006;36(5):660-4.
2006: Gérard Didelot; Florence Molinari; Paul Tchénio; Daniel Comas; Elodie Milhiet; Arnold Munnich; Laurence Colleaux; Thomas Preat
Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila.
Science (New York, N.Y.) 2006;313(5788):851-3.
2006: Guntram Borck; Mohamed Zarhrate; Céline Cluzeau; Elodie Bal; Jean-Paul Bonnefont; Arnold Munnich; Valérie Cormier-Daire; Laurence Colleaux
Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene.
Human mutation 2006;27(8):731-5.
2006: Mourad Naïmi; Sylvie Bannwarth; Vincent Procaccio; Jean Pouget; Claude Desnuelle; Jean-François Pellissier; Agnès Rötig; Arnold Munnich; Patrick Calvas; Christian Richelme; Philippe Jonveaux; Giovanni Castelnovo; Mariella Simon; Melvin Simon; Michel Clanet; Douglas C Wallace; Véronique Paquis-Flucklinger
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
European journal of human genetics : EJHG 2006;14(8):917-22.
2006: Isabelle Maystadt; Mohamed Zarhrate; Danièle Leclair-Richard; Brigitte Estournet; Annie Barois; Francis Renault; MC Routon; M-C Durand; Suzie Lefebvre; Arnold Munnich; Christine Verellen-Dumoulin; Louis Viollet
A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36.
Neurology 2006;67(1):120-4.
2006: Catherine Benoist-Lasselin; Emmanuel de Margerie; Linda Gibbs; Sarah Cormier; Caroline Silve; Gisèle Nicolas; Martine LeMerrer; Jean-Francois Mallet; Arnold Munnich; Jacky Bonaventure; Louise Zylberberg; Laurence Legeai-Mallet
Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patients.
Bone 2006;39(1):17-26.
2006: Hélène De Leersnyder; Bruno Claustrat; Arnold Munnich; Alain Verloes
Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome.
Molecular and cellular endocrinology 2006;252(1-2):88-91.
2006: Estelle Feyereisen; Serge Romana; Violaine Kerbrat; Julie Steffann; Nadine Gigarel; Marc Lelorc'h; Philippe Burlet; Pierre Ray; Samir Hamamah; Nicolas Chevalier; Renato Fanchin; L Foix-L'hélias; Gérard Tachdjian; Arnold Munnich; René Frydman; Michel Vekemans; Frydman Nelly
[Preimplantation genetic diagnosis (PGD): results from a Parisian center].
Journal de gynécologie, obstétrique et biologie de la reproduction 2006;35(4):356-72.
2006: Richard Redon; Geneviève Baujat; Damien Sanlaville; Martine Le Merrer; Michel Vekemans; Arnold Munnich; Nigel P Carter; Valérie Cormier-Daire; Laurence Colleaux
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.
European journal of human genetics : EJHG 2006;14(6):759-67.
2006: Loïc de Pontual; Anna Pelet; Delphine Trochet; F Jaubert; Yolanda Espinosa-Parrilla; Arnold Munnich; Jean-François Brunet; Christo Goridis; JOSUE FEINGOLD; Stanislas LYONNET; Jeanne Amiel
Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.
Journal of medical genetics 2006;43(5):419-23.
2006: Aurore Morlon; Asma Smahi; Arnold Munnich
[New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1].
Médecine sciences : M/S 2006;22(3):229-30.
2006: Christine Barnérias; Irina Giurgea; Lucie Hertz-Pannier; Nadia Bahi-Buisson; Nathalie Boddaert; Pierre Rustin; Agnés Rotig; Isabelle Desguerre; Arnold Munnich; Pascale de Lonlay
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Developmental medicine and child neurology 2006;48(3):227-30.
2006: Damien Sanlaville; Heather C Etchevers; Marie Gonzales; Jelena Martinovic; Mathieu Clément-Ziza; Anne-Lise Delezoide; Marie-Cécile Aubry; Anna Pelet; S Chemouny; Corinne Cruaud; Sophie Audollent; Chantal Esculpavit; Géraldine Goudefroye; Catherine Ozilou; Catherine Fredouille; Nicole Joye; Nicole Morichon-Delvallez; Yves Dumez; Jean Weissenbach; Arnold Munnich; Jeanne Amiel; Férechté Encha-Razavi; Stanislas LYONNET; Michel Vekemans; Tania Attié-Bitach
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
Journal of medical genetics 2006;43(3):211-217.
2006: Julie Steffann; Frydman Nelly; Nadine Gigarel; Philippe Burlet; Pierre F Ray; R Fanchin; Estelle Feyereisen; Violaine Kerbrat; Gérard Tachdjian; Jean-Paul Bonnefont; R Frydman; Arnold Munnich
Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis.
Journal of medical genetics 2006;43(3):244-7.
2006: S Romano; Nathalie Boddaert; Isabelle Desguerre; Laurence Hubert; R Salomon; David J Seidenwurm; Nadia Bahi-Buisson; Rima Nabbout; Pascale Sonigo; Stanislas LYONNET; Francis Brunelle; Arnold Munnich; Pascale de Lonlay
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.
Neuropediatrics 2006;37(1):42-5.
2006: Sylvie Gerber; Dominique Bonneau; Brigitte Gilbert; Arnold Munnich; Jean-Louis Dufier; Jean-Michel Rozet; Josseline Kaplan
USH1A: chronicle of a slow death.
American journal of human genetics 2006;78(2):357-9.
2006: Fabienne Barbet; Sylvie Gerber; Sélim Hakiki; Isabelle Perrault; Sylvain Hanein; Dominique Ducroq; Gaëlle Tanguy; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.
Advances in experimental medicine and biology 2006;572():21-7.
2006: Sylvain Hanein; Isabelle Perrault; Sylvie Gerber; Hélène Dollfus; Jean-Louis Dufier; Josué Feingold; Arnold Munnich; Shomi Bhattacharya; Josseline Kaplan; José-Alain Sahel; Jean-Michel Rozet; Thierry Leveillard
Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.
Advances in experimental medicine and biology 2006;572():9-14.
2006: Christel Thauvin-Robinet; Laurence Faivre; Frédéric Huet; Pierre Journeau; Christophe Glorion; Pierre Rustin; Agnès Rötig; Arnold Munnich; Valérie Cormier-Daire
Another observation with VATER association and a complex IV respiratory chain deficiency.
European journal of medical genetics 2006;49(1):71-7.
2006: François X Coudé; Claire Mignot; Stanislas LYONNET; Arnold Munnich
Discontinuity in the fall of left-handedness in a French population: a May '68 effect?
Laterality 2006;11(1):33-5.
2006: Estelle Feyereisen; A Amar; Violaine Kerbrat; Julie Steffann; Arnold Munnich; Michel Vekemans; René Frydman; Frydman Nelly
Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?
Human reproduction (Oxford, England) 2006;21(1):175-82.
2005: Aurore Morlon; Arnold Munnich; Asma Smahi
TAB2, TRAF6 and TAK1 are involved in NF-kappaB activation induced by the TNF-receptor, Edar and its adaptator Edaradd.
Human molecular genetics 2005;14(23):3751-7.
2005: Delphine Trochet; Seok Jong Hong; Jin Kyu Lim; Jean-François Brunet; Arnold Munnich; Kwang-Soo Kim; Stanislas LYONNET; Christo Goridis; Jeanne Amiel
Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.
Human molecular genetics 2005;14(23):3697-708.
2005: Arnold Munnich
[Advances in genetics: which benefits for the patients?].
Médecine sciences : M/S 2005;21(11):899-900.
2005: David Geneviève; E Walter; P Gorry; ML Jacquemont; L Dupic; V Layet; Arnold Munnich; Valérie Cormier-Daire; Marc Dommergues; Stanislas LYONNET; Delphine Mitanchez
Gorlin syndrome presenting as prenatal chylothorax in a girl.
Prenatal diagnosis 2005;25(11):997-9.
2005: Céline Huber; Dora Dias-Santagata; Anna Glaser; James O'Sullivan; Raja Brauner; Kenneth Wu; Xinsong Xu; Kerra Pearce; Rong Wang; Maria Luisa Giovannucci Uzielli; Nathalie Dagoneau; Wassim Chemaitilly; andrea superti-furga; Heloisa Dos Santos; André Mégarbané; Gilles Morin; Gabriele Gillessen-Kaesbach; Raoul Hennekam; Ineke van der Burgt; Graeme C M Black; Peter E Clayton; Andrew Read; Martine Le Merrer; Peter J Scambler; Arnold Munnich; Zhen-Qiang Pan; Robin Winter; Valérie Cormier-Daire
Identification of mutations in CUL7 in 3-M syndrome.
Nature genetics 2005;37(10):1119-24.
2005: Julie Steffann; Frydman Nelly; Philippe Burlet; Nadine Gigarel; Estelle Feyereisen; Violaine Kerbrat; Gérard Tachdjian; Arnold Munnich; René Frydman
[Extending preimplantation genetic diagnosis to HLA typing: the Paris experience].
Gynécologie, obstétrique & fertilité 2005;33(10):824-7.
2005: Philippe Burlet; Frydman Nelly; Nadine Gigarel; Jean-Paul Bonnefont; Violaine Kerbrat; Gérard Tachdjian; René Frydman; Arnold Munnich; Julie Steffann; Pierre F Ray
Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy.
Fertility and sterility 2005;84(3):734-9.
2005: David Geneviève; Damien Sanlaville; Laurence Faivre; Marie-Laure Kottler; Marguerite Jambou; Philippe Gosset; Dinane Boustani-Samara; Graziella Pinto; Catherine Ozilou; Geneviève Abeguilé; Arnold Munnich; Serge Romana; Odile Raoul; Valérie Cormier-Daire; Michel Vekemans
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.
European journal of human genetics : EJHG 2005;13(9):1033-9.
2005: Geneviève Baujat; Marlène Rio; Sylvie Rossignol; Damien Sanlaville; Stanislas LYONNET; Martine Le Merrer; Arnold Munnich; Christine Gicquel; Laurence Colleaux; Valérie Cormier-Daire
Clinical and molecular overlap in overgrowth syndromes.
American journal of medical genetics. Part C, Seminars in medical genetics 2005;137C(1):4-11.
2005: Mathieu Clément-Ziza; Naziha Khen; Jacques Gonzales; Célia Crétolle-Vastel; Jean-Yves Picard; Anna Tullio-Pelet; Claude Besmond; Arnold Munnich; Stanislas LYONNET; Claire Nihoul-Fékété
Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly.
American journal of medical genetics. Part A 2005;137(1):98-9.
2005: Mathieu Clément-Ziza; Yehuda Brody; Arnold Munnich; Stanislas LYONNET; Claude Besmond
GeneRetriever: software to extract all genes and transcripts in between two genetic markers to assist design of human custom microarrays.
BioTechniques 2005;39(2):180, 182, 184.
2005: David Geneviève; Martine Le Merrer; Arnold Munnich; P Maroteaux; Valérie Cormier-Daire
Long-term follow-up in a patient with metatropic dysplasia.
American journal of medical genetics. Part A 2005;135(3):342-3.
2005: Frydman Nelly; Serge Romana; Pierre Ray; Samir Hamamah; Gérard Tachdjian; Sabine Marcadet-Fredet; Arnold Munnich; Michel Vekemans; René Frydman
[The Paris experience in preimplantation genetic diagnosis: evaluation after the first births].
Annales d'endocrinologie 2005;66(3):294-301.
2005: Fredoen Valianpour; Voula Mitsakos; Dimitri Schlemmer; Jeffrey A Towbin; Juliet M Taylor; Paul G Ekert; David R Thorburn; Arnold Munnich; Ronald J A Wanders; Peter G Barth; Frédéric M Vaz
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis.
Journal of lipid research 2005;46(6):1182-95.
2005: Damien Sanlaville; David Genevieve; Céline Bernardin; Jeanne Amiel; Clarisse Baumann; Marie-Christine De Blois; Valérie Cormier-Daire; Bénédicte Gerard; Marion Gerard; Martine Le Merrer; Philippe Parent; Fabienne Prieur; Marguerite Prieur; Odile Raoul; Annick Toutain; Alain Verloes; Géraldine Viot; Serge Romana; Arnold Munnich; Stanislas LYONNET; Michel Vekemans; Catherine Turleau
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
European journal of human genetics : EJHG 2005;13(5):690-3.
2005: Damien Sanlaville; Marguerite Prieur; Marie-Christine De Blois; David Genevieve; Jean-Michel Lapierre; Catherine Ozilou; Monique Picq; Philippe Gosset; Nicole Morichon-Delvallez; Arnold Munnich; Valérie Cormier-Daire; Geneviève Baujat; Serge Romana; Michel Vekemans; Catherine Turleau
Functional disomy of the Xq28 chromosome region.
European journal of human genetics : EJHG 2005;13(5):579-85.
2005: David Geneviève; Delphine Héron; Vincent El Ghouzzi; Catherine Prost-Squarcioni; Martine Le Merrer; Aurélia Jacquette; Damien Sanlaville; Florence Pinton; Nathalie Villeneuve; Gabriel Kalifa; Arnold Munnich; Valérie Cormier-Daire
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
European journal of human genetics : EJHG 2005;13(5):541-6.
2005: M Flis-Trèves; Frydman Nelly; René Frydman; Violaine Kerbrat; Arnold Munnich; Michel Vekemans
[Pre-implantation genetic diagnosis and spontaneous pregnancies: an unexpected acting out].
Gynécologie, obstétrique & fertilité 2005;33(4):235-8.
2005: Yung-Hao Ching; Tushar Ghosh; Steve J Cross; Elizabeth A Packham; Louise Honeyman; Siobhan Loughna; Thelma E Robinson; Andrew M Dearlove; Gloria Ribas; Andrew J Bonser; Neil R Thomas; Andrew J Scotter; Leo S D Caves; Graham P Tyrrell; Ruth Newbury-Ecob; Arnold Munnich; Damien Bonnet; J David Brook
Mutation in myosin heavy chain 6 causes atrial septal defect.
Nature genetics 2005;37(4):423-8.
2005: Alice Goldenberg; Linh Huynh Ngoc; Marie-Christine Thouret; Valérie Cormier-Daire; Marie-France Gagnadoux; Dominique Chrétien; Catherine Lefrançois; Vanna Geromel; Agnès Rötig; Pierre Rustin; Arnold Munnich; Véronique Paquis; Corinne Antignac; Marie-Claire Gubler; Patrick Niaudet; Pascale de Lonlay; Etienne Bérard
Respiratory chain deficiency presenting as congenital nephrotic syndrome.
Pediatric nephrology (Berlin, Germany) 2005;20(4):465-9.
2005: Anna Pelet; Loïc de Pontual; Mathieu Clément-Ziza; Rémi Salomon; Claude Mugnier; Fumihiko MATSUDA; M Lathrop; Arnold Munnich; JOSUE FEINGOLD; Stanislas LYONNET; L Abel; Jeanne Amiel
Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease.
Journal of medical genetics 2005;42(3):e18.
2005: Marie-Hélène Odièvre; Dominique Chretien; Arnold Munnich; Brian H Robinson; Renée Dumoulin; Sahben Masmoudi; Noman Kadhom; Agnès Rötig; Pierre Rustin; Jean-Paul Bonnefont
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
Human mutation 2005;25(3):323-4.
2005: Nadine Gigarel; Pierre F Ray; Philippe Burlet; Frydman Nelly; Ghislaine Royer; Sophie Lebon; Jean-Paul Bonnefont; René Frydman; Arnold Munnich; Julie Steffann
Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR.
Molecular genetics and metabolism 2005;84(3):289-92.
2005: Houda Karmous-Benailly; Jelena Martinovic; Marie-Claire Gubler; Yoann Sirot; Laure Clech; Catherine Ozilou; Joëlle Auge; Nora Brahimi; Heather C Etchevers; Eric Detrait; Chantal Esculpavit; Sophie Audollent; Géraldine Goudefroye; Marie Gonzales; Julia Tantau; Philippe Loget; Madeleine Joubert; Dominique Gaillard; Corinne Jeanne-Pasquier; Anne-Lise Delezoide; Marie-Odile Peter; Ghislaine Plessis; Brigitte Simon-Bouy; Hélène Dollfus; Martine Le Merrer; Arnold Munnich; Férechté Encha-Razavi; Michel Vekemans; Tania Attié-Bitach
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
American journal of human genetics 2005;76(3):493-504.
2005: Delphine Trochet; Louise M O'Brien; David Gozal; Ha Trang; Agneta Nordenskjöld; Béatrice Laudier; Pär-Johan Svensson; Sabine Uhrig; Trevor Cole; Stephan Niemann; Arnold Munnich; Claude Gaultier; Stanislas LYONNET; Jeanne Amiel
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
American journal of human genetics 2005;76(3):421-6.
2005: Ana Belinda Campos-Xavier; Jean-Laurent Casanova; Yves Doumaz; JOSUE FEINGOLD; Arnold Munnich; Valérie Cormier-Daire
Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations.
American journal of medical genetics. Part A 2005;133A(2):216-8.
2005: Richard Redon; Marlène Rio; Simon G Gregory; R A Cooper; Heike Fiegler; Damien Sanlaville; R Banerjee; C Scott; Philippa Carr; Cordelia Langford; Valérie Cormier-Daire; Arnold Munnich; Nigel P Carter; Laurence Colleaux
Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?
Journal of medical genetics 2005;42(2):166-71.
2005: Isabelle Perrault; Sylvain Hanein; Sylvie Gerber; Beatrice Lebail; Patrice Vlajnik; Fabienne Barbet; Dominique Ducroq; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype.
Human mutation 2005;25(2):222.
2005: Florence Molinari; Annick Raas-Rothschild; Marlène Rio; Giuseppe Fiermonte; Férechté Encha-Razavi; Luigi Palmieri; Ferdinando Palmieri; Ziva Ben-Neriah; Noman Kadhom; Michel Vekemans; Tania Attie-Bitach; Arnold Munnich; Pierre Rustin; Laurence Colleaux
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.
American journal of human genetics 2005;76(2):334-9.
2005: Fabienne Barbet; Sélim Hakiki; Christophe Orssaud; Sylvie Gerber; Isabelle Perrault; Sylvain Hanein; Dominique Ducroq; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
A third locus for dominant optic atrophy on chromosome 22q.
Journal of medical genetics 2005;42(1):e1.
2005: Alexander Lossos; Lekbir Baala; Dov Soffer; Lea Averbuch-Heller; Shlomo Dotan; Arnold Munnich; Stanislas LYONNET; John Moshe Gomori; Adnan Genem; Meir Neufeld; Oded Abramsky; Joël Zlotogora; Zohar Argov
A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.
Brain : a journal of neurology 2005;128(Pt 1):42-51.
2004: Agnès Rötig; Sophie Lebon; Elena Zinovieva; Julie Mollet; Emmanuelle Sarzi; Jean-Paul Bonnefont; Arnold Munnich
Molecular diagnostics of mitochondrial disorders.
Biochimica et biophysica acta 2004;1659(2-3):129-35.
2004: Guntram Borck; Richard Redon; Damien Sanlaville; Marlène Rio; Marguerite Prieur; Stanislas LYONNET; Michel Vekemans; Nigel P Carter; Arnold Munnich; Laurence Colleaux; Valérie Cormier-Daire
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.
Journal of medical genetics 2004;41(12):e128.
2004: Smaïl Hadj-Rabia; Lekbir Baala; Pierre VABRES; Dominique Hamel-Teillac; Emmanuel Jacquemin; Monique Fabre; Stanislas LYONNET; Yves de Prost; Arnold Munnich; michelle hadchouel; Asma Smahi
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease.
Gastroenterology 2004;127(5):1386-90.
2004: Olivier Clermont; Philippe Burlet; Paule Benit; Dominique Chanterau; Pascale Saugier-Veber; Arnold Munnich; Veronica Cusin
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
Human mutation 2004;24(5):417-27.
2004: Nathalie Dagoneau; Catherine Benoist-Lasselin; Céline Huber; Laurence Faivre; André Mégarbané; Abdulrahman Alswaid; Hélène Dollfus; Yves Alembik; Arnold Munnich; Laurence Legeai-Mallet; Valérie Cormier-Daire
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.
American journal of human genetics 2004;75(5):801-6.
2004: Aline Ghozlan; Arnold Munnich
[MAOB: a modifier gene in phenylketonuria?].
Médecine sciences : M/S 2004;20(10):929-32.
2004: Jean-Paul Bonnefont; Fatima Djouadi; Carina Prip-Buus; Stéphanie Gobin; Arnold Munnich; Jean Bastin
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.
Molecular aspects of medicine 2004;25(5-6):495-520.
2004: Jeanne Amiel; Delphine Trochet; Mathieu Clément-Ziza; Arnold Munnich; Stanislas LYONNET
Polyalanine expansions in human.
Human molecular genetics 2004;13 Spec No 2():R235-43.
2004: Ha Trang; Béatrice Laudier; Delphine Trochet; Arnold Munnich; Stanislas LYONNET; Claude Gaultier; Jeanne Amiel
PHOX2B gene mutation in a patient with late-onset central hypoventilation.
Pediatric pulmonology 2004;38(4):349-51.
2004: Isabelle Perrault; Sylvain Hanein; Sylvie Gerber; Fabienne Barbet; Dominique Ducroq; Hélène Dollfus; Christian Hamel; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
American journal of human genetics 2004;75(4):639-46.
2004: Vincent Paupe; Thierry Gilbert; Martine Le Merrer; Arnold Munnich; Valérie Cormier-Daire; Vincent El Ghouzzi
Recent advances in Dyggve-Melchior-Clausen syndrome.
Molecular genetics and metabolism 2004;83(1-2):51-9.
2004: Valérie Cormier-Daire; D Geneviève; Arnold Munnich; M Le Merrer
New insights in congenital bowing of the femora.
Clinical genetics 2004;66(3):169-76.
2004: David Geneviève; Jeanne Amiel; Géraldine Viot; Martine Le Merrer; Damien Sanlaville; A Urtizberea; M Gérard; Arnold Munnich; Valérie Cormier-Daire; Stanislas LYONNET
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.
American journal of medical genetics. Part A 2004;129A(1):64-8.
2004: Anne Philippe; J Deron; David Geneviève; Pascale de Lonlay; K M Gibson; Daniel Rabier; Arnold Munnich
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria).
Developmental medicine and child neurology 2004;46(8):564-8.
2004: Guntram Borck; Marlène Rio; Damien Sanlaville; Richard Redon; Florence Molinari; Delphine Bacq; Odile Raoul; Valérie Cormier-Daire; Stanislas LYONNET; Jeanne Amiel; Martine Le Merrer; Marie-Christine De Blois; Marguerite Prieur; Michel Vekemans; Nigel P Carter; Arnold Munnich; Laurence Colleaux
Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.
Clinical genetics 2004;66(2):122-7.
2004: Laurence Faivre; Martine Le Merrer; Klaus Zerres; Mongi Ben Hariz; Déborah Scheffer; Ian D Young; Pierre Maroteaux; Arnold Munnich; Valérie Cormier-Daire
Clinical and genetic heterogeneity in Desbuquois dysplasia.
American journal of medical genetics. Part A 2004;128A(1):29-32.
2004: David Genevieve; Clarisse Baumann; C Huber; Laurence Faivre; Damien Sanlaville; Christine Bodemer; Smaïl Hadj-Rabia; Antoine Assoumou; Alain Verloes; F Raqbi; Arnold Munnich; Valérie Cormier-Daire
A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation.
Journal of medical genetics 2004;41(6):e77.
2004: Marlène Rio; Laurence Colleaux; Damien Sanlaville; Guntram Borck; Florence Molinari; Arnold Munnich
[Diagnostic approach in patients with severe and syndromic mental retardation].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2004;11(6):566-8.
2004: Louis Viollet; Mohamed Zarhrate; Isabelle Maystadt; Brigitte Estournet-Mathiaut; Annie Barois; Isabelle Desguerre; Michèle Mayer; Brigitte Chabrol; Bruno Leheup; Veronica Cusin; Thierry Billette de Villemeur; Dominique Bonneau; Pascale Saugier-Veber; Anne Touzery-De Villepin; Anne Delaubier; Jocelyne Kaplan; Marc Jeanpierre; JOSUE FEINGOLD; Arnold Munnich
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
European journal of human genetics : EJHG 2004;12(6):483-8.
2004: Julie Steffann; Valérie Raclin; Asma Smahi; Hayley Woffendin; Arnold Munnich; Sue Kenwrick; Anne-Gaelle Grebille; alexandra benachi; Yves Dumez; Jean-Paul Bonnefont; Smaïl Hadj-Rabia
A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti.
Prenatal diagnosis 2004;24(5):384-8.
2004: L Pinson; Joëlle Augé; Sophie Audollent; G Mattéi; Heather C Etchevers; N Gigarel; F Razavi; D Lacombe; S Odent; Martine Le Merrer; Jeanne Amiel; Arnold Munnich; Germana Meroni; Stanislas LYONNET; Michel Vekemans; Tania Attié-Bitach
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome.
Journal of medical genetics 2004;41(5):381-6.
2004: Zvi U Borochowitz; Déborah Scheffer; V Adir; Nathalie Dagoneau; Arnold Munnich; Valérie Cormier-Daire
Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.
Journal of medical genetics 2004;41(5):366-72.
2004: Isabelle Maystadt; Mohamed Zarhrate; Pierre Landrieu; O Boespflug-Tanguy; S Sukno; P Collignon; Judith Melki; Christine Verellen-Dumoulin; Arnold Munnich; Louis Viollet
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.
Human mutation 2004;23(5):525-6.
2004: Géraldine Viot; Pascale Sonigo; Isabelle Simon; Brigitte Simon-Bouy; Frédéric Chadeyron; Cherif Beldjord; Julia Tantau; Jelena Martinovic; Chantal Esculpavit; Francis Brunelle; Arnold Munnich; Michel Vekemans; Férechté Encha-Razavi
Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different.
American journal of medical genetics. Part A 2004;126A(2):123-8.
2004: Yolanda Espinosa-Parrilla; Férechté Encha-Razavi; Tania Attié-Bitach; Jelena Martinovic; Nicole Morichon-Delvallez; Arnold Munnich; Michel Vekemans; Stanislas LYONNET; Jeanne Amiel
Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum.
Prenatal diagnosis 2004;24(4):298-301.
2004: Sylvain Hanein; Isabelle Perrault; Sylvie Gerber; Gaëlle Tanguy; Fabienne Barbet; Dominique Ducroq; Patrick Calvas; Hélène Dollfus; Christian Hamel; Tuija Lopponen; Francis Munier; Louisa Santos; Stavit A Shalev; Dimitrios I Zafeiriou; Jean-Louis Dufier; Arnold Munnich; Jean-Michel Rozet; Josseline Kaplan
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Human mutation 2004;23(4):306-17.
2004: Delphine Trochet; Franck Bourdeaut; Isabelle Janoueix-Lerosey; Anne Deville; Loïc de Pontual; Gudrun Schleiermacher; Carole Coze; Nicole Philip; Thierry Frébourg; Arnold Munnich; Stanislas LYONNET; Olivier Delattre; Jeanne Amiel
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.
American journal of human genetics 2004;74(4):761-4.
2004: Geneviève Baujat; Marlène Rio; Sylvie Rossignol; Damien Sanlaville; Stanislas LYONNET; Martine Le Merrer; Arnold Munnich; Christine Gicquel; Valérie Cormier-Daire; Laurence Colleaux
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.
American journal of human genetics 2004;74(4):715-20.
2004: Jean-Michel Lapierre; Damien Sanlaville; J Kang; Catherine Ozilou; Marc Le Lorc'h; Marie-Christine Perrier Waill; Marguerite Prieur; Laurence Colleaux; Arnold Munnich; Catherine Turleau; Moncef Benkhalifa; M Mohammed; Michel Vekemans; Serge Romana
[A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances].
Annales de biologie clinique 2004;62(2):203-12.
2004: Pierre Rustin; Damien Bonnet; Agnès Rötig; Arnold Munnich; Daniel Sidi
Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial.
Neurology 2004;62(3):524-5; author reply 525; discussion 525.
2004: Nathalie Dagoneau; Déborah Scheffer; Céline Huber; Lihadh Al-Gazali; Maja Di Rocco; Anne Godard; Jelena Martinovic; Annick Raas-Rothschild; Sabine Sigaudy; Sheila Unger; Sophie Nicole; Bertrand Fontaine; Jean-Luc Taupin; Jean-François Moreau; andrea superti-furga; Martine Le Merrer; Jacky Bonaventure; Arnold Munnich; Laurence Legeai-Mallet; Valérie Cormier-Daire
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
American journal of human genetics 2004;74(2):298-305.
2004: Alice Goldenberg; Claude Wolf; Françoise Chevy; alexandra benachi; Yves Dumez; Arnold Munnich; Valérie Cormier-Daire
Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases.
American journal of medical genetics. Part A 2004;124A(4):423-6.
2004: Nadine Gigarel; Frydman Nelly; Philippe Burlet; Violaine Kerbrat; Julie Steffann; René Frydman; Arnold Munnich; Pierre F Ray
Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.
Human genetics 2004;114(3):298-305.
2004: Pierre Rustin; Arnold Munnich; Agnès Rötig
Mitochondrial respiratory chain dysfunction caused by coenzyme Q deficiency.
Methods in enzymology 2004;382():81-8.
2004: Dominique Chretien; Abdelhamid Slama; Jean-Jacques Briere; Arnold Munnich; Agnès Rötig; Pierre Rustin
Revisiting pitfalls, problems and tentative solutions for assaying mitochondrial respiratory chain complex III in human samples.
Current medicinal chemistry 2004;11(2):233-9.
2004: Laurence Legeai-Mallet; Catherine Benoist-Lasselin; Arnold Munnich; Jacky Bonaventure
Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias.
Bone 2004;34(1):26-36.
2004: Paule Bénit; Abdelhamid Slama; F Cartault; Irina Giurgea; Dominique Chretien; Sophie Lebon; Cécile Marsac; Arnold Munnich; Agnès Rötig; Pierre Rustin
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
Journal of medical genetics 2004;41(1):14-7.
2004: Laurence Faivre; Valérie Cormier-Daire; Ian Young; Henri Bracq; Georges Finidori; Jean-Paul Padovani; Sylvie Odent; Ralph S Lachman; Arnold Munnich; Pierre Maroteaux; Martine Le Merrer
Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients.
American journal of medical genetics. Part A 2004;124A(1):54-9.
2004: Laurence Faivre; Valérie Cormier-Daire; Alison M Eliott; Fiona Field; Arnold Munnich; Pierre Maroteaux; Martine Le Merrer; Ralph S Lachman
Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations.
American journal of medical genetics. Part A 2004;124A(1):48-53.
2003: Sophie Lebon; Marie Chol; Paule Benit; Claude Mugnier; Dominique Chretien; Irina Giurgea; I Kern; E Girardin; Lucie Hertz-Pannier; Pascale de Lonlay; Agnès Rötig; Pierre Rustin; Arnold Munnich
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
Journal of medical genetics 2003;40(12):896-9.
2003: Agnès Rötig; Arnold Munnich
Genetic features of mitochondrial respiratory chain disorders.
Journal of the American Society of Nephrology : JASN 2003;14(12):2995-3007.
2003: Ghislaine Royer; Sylvain Hanein; Valérie Raclin; Nadine Gigarel; Jean-Michel Rozet; Arnold Munnich; Julie Steffann; Jean-Louis Dufier; Josseline Kaplan; Jean-Paul Bonnefont
NDP gene mutations in 14 French families with Norrie disease.
Human mutation 2003;22(6):499.
2003: Laurence Faivre; Hélène Dollfus; Stanislas LYONNET; Yves Alembik; André Mégarbané; John R Samples; Robert J Gorlin; Abdulrahman Alswaid; Josué Feingold; Martine Le Merrer; Arnold Munnich; Valérie Cormier-Daire
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
American journal of medical genetics. Part A 2003;123A(2):204-7.
2003: Alice Goldenberg; Mathieu Milh; Pascal De Lagausie; Renaud Mesnage; Fatiha Benarif; Marie-Christine De Blois; Arnold Munnich; Stanislas LYONNET; Valérie Cormier-Daire
Werner mesomelic dysplasia with Hirschsprung disease.
American journal of medical genetics. Part A 2003;123A(2):186-9.
2003: Loïc de Pontual; Virginie Népote; Tania Attié-Bitach; Hassan Al Halabiah; Ha Trang; Vincent Elghouzzi; Béatrice Levacher; Karim Benihoud; Joëlle Augé; Christophe Faure; Béatrice Laudier; Michel Vekemans; Arnold Munnich; Michel Perricaudet; François Guillemot; Claude Gaultier; Stanislas LYONNET; Michel Simonneau; Jeanne Amiel
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).
Human molecular genetics 2003;12(23):3173-80.
2003: Fabienne Barbet; Sylvie Gerber; Sélim Hakiki; Isabelle Perrault; Sylvain Hanein; Dominique Ducroq; Gaëlle Tanguy; Jean-Louis Dufier; Arnold Munnich; Jean-Michel Rozet; Josseline Kaplan
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q.
European journal of human genetics : EJHG 2003;11(12):966-71.
2003: Niklas Darin; Noman Kadhom; Jean-Jacques Briere; Dominique Chretien; Cécile M Bébéar; Agnès Rötig; Arnold Munnich; Pierre Rustin
Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis.
BMC biochemistry 2003;4():15.
2003: Hélène De Leersnyder; Marie-Christine De Blois; J-L Bresson; Daniel Sidi; Bruno Claustrat; Arnold Munnich
[Inversion of the circadian melatonin rhythm in Smith-Magenis syndrome].
Revue neurologique 2003;159(11 Suppl):6S21-6.
2003: Florence Molinari; Virginia Meskanaite; Arnold Munnich; Peter Sonderegger; Laurence Colleaux
Extracellular proteases and their inhibitors in genetic diseases of the central nervous system.
Human molecular genetics 2003;12 Spec No 2():R195-200.
2003: Gilles Courtois; Asma Smahi; Janine Reichenbach; Rainer Döffinger; Caterina Cancrini; Marion Bonnet; Anne Puel; Christine Chable-Bessia; Shoji Yamaoka; Jacqueline Feinberg; Sophie Dupuis-Girod; Christine Bodemer; Susanna Livadiotti; Francesco Novelli; Paolo Rossi; Alain Fischer; Alain Israël; Arnold Munnich; Françoise Le Deist; Jean-Laurent Casanova
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.
The Journal of clinical investigation 2003;112(7):1108-15.
2003: Fatima Djouadi; Jean-Paul Bonnefont; Laure Thuillier; Véronique Droin; Noman Khadom; Arnold Munnich; Jean Bastin
Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate.
Pediatric research 2003;54(4):446-51.
2003: Xavier de Mollerat du Jeu; Fiorella Gurrieri; Chad T Morgan; Eugenio Sangiorgi; David B Everman; Paola Gaspari; Jeanne Amiel; Michael Bamshad; Robert Lyle; Jean-Louis Blouin; Judith E Allanson; Bernard Le Marec; Melba Wilson; Nancy E Braverman; Uppala Radhakrishna; Celia Delozier-Blanchet; Albert G Abbott; Vincent Elghouzzi; Stylianos E Antonarakis; Roger E Stevenson; Arnold Munnich; Giovanni Neri; Charles E Schwartz
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.
Human molecular genetics 2003;12(16):1959-71.
2003: Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Géraldine Viot; Alice Goldenberg; Becky Mardach; Jeanne Amiel; Philippe Saada; Yves Dumez; Francis Brunelle; Jean-Marie Saudubray; Dominique Chrétien; Agnès Rötig; Pierre Rustin; Arnold Munnich; Pascale de Lonlay
Antenatal manifestations of mitochondrial respiratory chain deficiency.
The Journal of pediatrics 2003;143(2):208-12.
2003: Isabelle Perrault; Sylvain Hanein; Sylvie Gerber; Fabienne Barbet; Jean-Louis Dufier; Arnold Munnich; Jean-Michel Rozet; Josseline Kaplan
Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.
Journal of medical genetics 2003;40(7):e90.
2003: Annachiara De Sandre-Giovannoli; Rafaëlle Bernard; Pierre Cau; Claire Navarro; Jeanne Amiel; Irène Boccaccio; Stanislas LYONNET; Colin L Stewart; Arnold Munnich; Martine Le Merrer; Nicolas Lévy
Lamin a truncation in Hutchinson-Gilford progeria.
Science (New York, N.Y.) 2003;300(5628):2055.
2003: Marlène Rio; L Clech; Jeanne Amiel; Laurence Faivre; Stanislas LYONNET; Martine Le Merrer; Sylvie Odent; Didier Lacombe; P Edery; Raja Brauner; Odile Raoul; Philippe Gosset; Marguerite Prieur; Michel Vekemans; Arnold Munnich; Laurence Colleaux; Valérie Cormier-Daire
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Journal of medical genetics 2003;40(6):436-40.
2003: Paule Bénit; Réjane Beugnot; Dominique Chretien; Irina Giurgea; Pascale De Lonlay-Debeney; Jean-Paul Issartel; Marisol Corral-Debrinski; Stefan Kerscher; Pierre Rustin; Agnès Rötig; Arnold Munnich
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.
Human mutation 2003;21(6):582-6.
2003: Florence Molinari; Marlène Rio; Arnold Munnich; Laurence Colleaux
[Neurotrypsin mutations and mental retardation].
Médecine sciences : M/S 2003;19(5):525-7.
2003: Paule Bénit; Julie Steffann; Sophie Lebon; Dominique Chretien; Noman Kadhom; Pascale de Lonlay; Alice Goldenberg; Yves Dumez; Marc Dommergues; Pierre Rustin; Arnold Munnich; Agnès Rötig
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
Human genetics 2003;112(5-6):563-6.
2003: M Flis-Trèves; Frydman Nelly; Violaine Kerbrat; Arnold Munnich; Michel Vekemans; René Frydman
[Preimplantation genetic diagnosis and its psychological effects].
Journal de gynécologie, obstétrique et biologie de la reproduction 2003;32(2):127-31.
2003: Valérie Cormier-Daire; Florence Molinari; Marlène Rio; Odile Raoul; Marie-Christine De Blois; Serge Romana; Michel Vekemans; Arnold Munnich; Laurence Colleaux
Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?
Journal of medical genetics 2003;40(4):300-3.
2003: Laurence Faivre; Martine Le Merrer; Lihadh Al-Gazali; Margreet G E M Ausems; P Bitoun; Delphine Bacq; Pierre Maroteaux; Arnold Munnich; Valérie Cormier-Daire
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.
Journal of medical genetics 2003;40(4):282-4.
2003: Jeanne Amiel; Béatrice Laudier; Tania Attié-Bitach; Ha Trang; Loïc de Pontual; Blanca Gener; Delphine Trochet; Heather C Etchevers; Pierre Ray; Michel Simonneau; Michel Vekemans; Arnold Munnich; Claude Gaultier; Stanislas LYONNET
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
Nature genetics 2003;33(4):459-61.
2003: Marie Chol; Sophie Lebon; Paule Bénit; Dominique Chretien; Pascale de Lonlay; Alice Goldenberg; Sylvie Odent; Lucie Hertz-Pannier; C Vincent-Delorme; Valérie Cormier-Daire; Pierre Rustin; Agnès Rötig; Arnold Munnich
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
Journal of medical genetics 2003;40(3):188-91.
2003: Jeanne Amiel; Anna Pelet; Ha Trang; Loïc de Pontual; Michel Simonneau; Arnold Munnich; Claude Gaultier; Stanislas LYONNET
Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse).
American journal of medical genetics. Part A 2003;117A(1):18-20.
2003: Fatima Djouadi; Jean-Paul Bonnefont; Arnold Munnich; Jean Bastin
Characterization of fatty acid oxidation in human muscle mitochondria and myoblasts.
Molecular genetics and metabolism 2003;78(2):112-8.
2003: Vincent El Ghouzzi; Nathalie Dagoneau; Esther Kinning; Christel Thauvin-Robinet; Wassim Chemaitilly; Catherine Prost-Squarcioni; Lihadh Al-Gazali; Alain Verloes; Martine Le Merrer; Arnold Munnich; Richard C Trembath; Valérie Cormier-Daire
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.
Human molecular genetics 2003;12(3):357-64.
2003: Ana Belinda Campos-Xavier; Jorge M Saraiva; Letícia M Ribeiro; Arnold Munnich; Valérie Cormier-Daire
Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis.
Human genetics 2003;112(2):186-9.
2003: Dominique Chretien; Paule Bénit; Marie Chol; Sophie Lebon; Agnès Rötig; Arnold Munnich; Pierre Rustin
Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts.
Biochemical and biophysical research communications 2003;301(1):222-4.
2003: Isabelle Perrault; Sylvie Gerber; Sylvain Hanein; Serge Picaud; Jean-Michel Rozet; Jean-Louis Dufier; Arnold Munnich; José Sahel; Josseline Kaplan
Leber congenital amaurosis--genotyping required for possible inclusion in a clinical trial.
Advances in experimental medicine and biology 2003;533():69-77.
2003: Pierre F Ray; Paule Benit; Jean-Paul Bonnefont; Arnold Munnich
Chronology of reported denaturing high performance liquid chromatography (DHPLC)-based prenatal diagnoses.
Prenatal diagnosis 2003;23(1):81.
2003: Hélène De Leersnyder; J L Bresson; Marie-Christine De Blois; J-C Souberbielle; Agnès Mogenet; B Delhotal-Landes; F Salefranque; Arnold Munnich
Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome.
Journal of medical genetics 2003;40(1):74-8.
2003: Laurence Faivre; Robert J Gorlin; M K Wirtz; M Godfrey; Nathalie Dagoneau; John R Samples; Martine Le Merrer; G Collod-Beroud; catherine boileau; Arnold Munnich; Valérie Cormier-Daire
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.
Journal of medical genetics 2003;40(1):34-6.
2003: David Genevieve; Valérie Cormier-Daire; Damien Sanlaville; Laurence Faivre; Philippe Gosset; L Allart; Monique Picq; Arnold Munnich; Serge Romana; Marie-Christine De Blois; Michel Vekemans
Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome.
American journal of medical genetics. Part A 2003;116A(1):90-3.
2002: Pascale de Lonlay; Claude Mugnier; Damien Sanlaville; Karine Chantrel-Groussard; Paule Bénit; Sophie Lebon; Dominique Chrétien; Noman Kadhom; Safa Saker; Gabor Gyapay; Serge Romana; Jean Weissenbach; Arnold Munnich; Pierre Rustin; Agnès Rötig
Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.
Human molecular genetics 2002;11(26):3273-81.
2002: Sylvie Gerber; Isabelle Perrault; Sylvain Hanein; Stavit A Shalev; Joël Zlotogora; Fabienne Barbet; Dominique Ducroq; Jean-Louis Dufier; Arnold Munnich; Jean-Michel Rozet; Josseline Kaplan
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis.
Ophthalmic genetics 2002;23(4):225-35.
2002: Dominique Ducroq; Jean-Michel Rozet; Sylvie Gerber; Isabelle Perrault; Dabienne Barbet; Sylvain Hanein; Selim Hakiki; Jean-Louis Dufier; Arnold Munnich; Christian Hamel; Josseline Kaplan
The ABCA4 gene in autosomal recessive cone-rod dystrophies.
American journal of human genetics 2002;71(6):1480-2.
2002: Florence Molinari; Marlène Rio; Virginia Meskenaite; Férechté Encha-Razavi; Joëlle Augé; Delphine Bacq; Sylvain Briault; Michel Vekemans; Arnold Munnich; Tania Attié-Bitach; Peter Sonderegger; Laurence Colleaux
Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation.
Science (New York, N.Y.) 2002;298(5599):1779-81.
2002: Laurence Faivre; Philippe Gosset; Valérie Cormier-Daire; Sylvie Odent; Jeanne Amiel; Irina Giurgea; Marie-Cécile Nassogne; Laurent Pasquier; Arnold Munnich; Serge Romana; Marguerite Prieur; Michel Vekemans; Marie-Christine De Blois; Catherine Turleau
Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.
European journal of human genetics : EJHG 2002;10(11):699-706.
2002: Laurence Faivre; Martine Le Merrer; Stanislas LYONNET; Henri Plauchu; Nathalie Dagoneau; Ana Belinda Campos-Xavier; Jocelyne Attia-Sobol; Alain Verloes; Arnold Munnich; Valérie Cormier-Daire
Clinical and genetic heterogeneity of Seckel syndrome.
American journal of medical genetics 2002;112(4):379-83.
2002: Christel Thauvin-Robinet; Vincent El Ghouzzi; Wassim Chemaitilly; Nathalie Dagoneau; Odile Boute; Géraldine Viot; André Mégarbané; abdelaziz sefiani; Arnold Munnich; Martine Le Merrer; Valérie Cormier-Daire
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.
Journal of medical genetics 2002;39(10):714-7.
2002: Asma Smahi; Gilles Courtois; Smail Hadj Rabia; Rainer Döffinger; Christine Bodemer; Arnold Munnich; Jean-Laurent Casanova; Alain Israël
The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes.
Human molecular genetics 2002;11(20):2371-5.
2002: Sylvain Hanein; Isabelle Perrault; Päivi Olsen; Tuija Lopponen; Marja Hietala; Sylvie Gerber; Marc Jeanpierre; Fabienne Barbet; Dominique Ducroq; Sélim Hakiki; Arnold Munnich; Jean-Michel Rozet; Josseline Kaplan
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.
Human mutation 2002;20(4):322-3.
2002: Frydman Nelly; Serge Romana; Pierre Ray; Samir Hamamah; Gérard Tachdjian; Arnold Munnich; Michel Vekemans; René Frydman
[Preimplantation genetic diagnosis experience in Paris: evaluation of first births].
Journal de gynécologie, obstétrique et biologie de la reproduction 2002;31(5):456-64.
2002: Vanna Geromel; Niklas Darin; Dominique Chrétien; Paule Bénit; Pascale DeLonlay; Agnès Rötig; Arnold Munnich; Pierre Rustin
Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits.
Molecular genetics and metabolism 2002;77(1-2):21-30.
2002: Lekbir Baala; Smaïl Hadj-Rabia; Dominique Hamel-Teillac; michelle hadchouel; Catherine Prost; Suzanne M Leal; Emmanuel Jacquemin; abdelaziz sefiani; Yves de Prost; Gilles Courtois; Arnold Munnich; Stanislas LYONNET; Pierre VABRES
Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.
The Journal of investigative dermatology 2002;119(1):70-6.
2002: Pierre F Ray; Frydman Nelly; Tania Attié; Samir Hamamah; Violaine Kerbrat; Gérard Tachdjian; Serge Romana; Michel Vekemans; René Frydman; Arnold Munnich
Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination.
Molecular human reproduction 2002;8(7):688-94.
2002: Yolanda Espinosa-Parrilla; Jeanne Amiel; Joëlle Augé; Férechté Encha-Razavi; Arnold Munnich; Stanislas LYONNET; Michel Vekemans; Tania Attié-Bitach
Expression of the SMADIP1 gene during early human development.
Mechanisms of development 2002;114(1-2):187-91.
2002: M Holder-Espinasse; Sandrine Marie; G Bourrouillou; Irène Ceballos-Picot; Marie-Cécile Nassogne; Laurence Faivre; Jeanne Amiel; Arnold Munnich; Marie-Françoise Vincent; Valérie Cormier-Daire
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
Journal of medical genetics 2002;39(6):440-2.
2002: Sophie Dupuis-Girod; Nadège Corradini; Smaïl Hadj-Rabia; Jean-Christophe Fournet; Laurence Faivre; Françoise Le Deist; Philippe Durand; Rainer Döffinger; Asma Smahi; Alain Israel; Gilles Courtois; Nicole Brousse; Stéphane Blanche; Arnold Munnich; Alain Fischer; Jean-Laurent Casanova; Christine Bodemer
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.
Pediatrics 2002;109(6):e97.
2002: Louis Viollet; Annie Barois; Jean G Rebeiz; Ziad Rifai; Philippe Burlet; Mohamed Zarhrate; Elodie Vial; Michel Dessainte; Brigitte Estournet; Bernard Kleinknecht; John Pearn; Raymond D Adams; J Andoni Urtizberea; Didier Cros; Kate Bushby; Arnold Munnich; Suzie Lefebvre
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.
Annals of neurology 2002;51(5):585-92.
2002: Pierre Rustin; Arnold Munnich; Agnès Rötig
Succinate dehydrogenase and human diseases: new insights into a well-known enzyme.
European journal of human genetics : EJHG 2002;10(5):289-91.
2002: Agnès Rötig; Daniel Sidi; Arnold Munnich; Pierre Rustin
Molecular insights into Friedreich's ataxia and antioxidant-based therapies.
Trends in molecular medicine 2002;8(5):221-4.
2002: Suzie Lefebvre; Philippe Burlet; Louis Viollet; Solange Bertrandy; Céline Huber; Caroline Belser; Arnold Munnich
A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy.
Human molecular genetics 2002;11(9):1017-27.
2002: Stacey B Gabriel; Rémi Salomon; Anna Pelet; Misha Angrist; Jeanne Amiel; Myriam Fornage; Tania Attié-Bitach; Jane M Olson; Robert Hofstra; Charles Buys; Julie Steffann; Arnold Munnich; Stanislas LYONNET; Aravinda Chakravarti
Segregation at three loci explains familial and population risk in Hirschsprung disease.
Nature genetics 2002;31(1):89-93.
2002: Pierre Rustin; Agnès Rötig; Arnold Munnich; Daniel Sidi
Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia.
Free radical research 2002;36(4):467-9.
2002: Vanna Geromel; Agnès Rötig; Arnold Munnich; Pierre Rustin
Coenzyme Q10 depletion is comparatively less detrimental to human cultured skin fibroblasts than respiratory chain complex deficiencies.
Free radical research 2002;36(4):375-9.
2002: Jean-Michel Rozet; Isabelle Perrault; Nadine Gigarel; Eric H Souied; I Ghazi; Sylvie Gerber; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan
Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.
Journal of medical genetics 2002;39(4):284-5.
2002: Marlène Rio; Florence Molinari; Solange Heuertz; Catherine Ozilou; Philippe Gosset; Odile Raoul; Valérie Cormier-Daire; Jeanne Amiel; Stanislas LYONNET; Martine Le Merrer; Catherine Turleau; Marie-Christine De Blois; Marguerite Prieur; Serge Romana; Michel Vekemans; Arnold Munnich; Laurence Colleaux
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.
Journal of medical genetics 2002;39(4):266-70.
2002: Laurence Faivre; André Mégarbané; Abdulrahman Alswaid; Louise Zylberberg; Noura Aldohayan; Belinda Campos-Xavier; Delphine Bacq; Laurence Legeai-Mallet; Jacky Bonaventure; Arnold Munnich; Valérie Cormier-Daire
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.
Human genetics 2002;110(4):366-70.
2002: Ana Hausse; Yacine Aggoun; Damien Bonnet; Daniel Sidi; Arnold Munnich; Agnès Rötig; Pierre Rustin
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia.
Heart (British Cardiac Society) 2002;87(4):346-9.
2002: Laurence Faivre; Jeanne Amiel; M Ouachée-Chardin; David Geneviève; Arnold Munnich; Valérie Cormier-Daire; F Monceaux; D Teillac
Septo-optic dysplasia and digital anomalies: another observation.
American journal of medical genetics 2002;108(3):247-8.
2002: René Frydman; Gérard Tachdjian; Frydman Nelly; Pierre Ray; Serge Romana; Samir Hamamah; Sabine Marcadet-Fredet; Violaine Kerbrat; Renato Fanchin; Isaac Jacques Kadoch; Tania Attie; Marc Lelorc'h; Michel Vekemans; Arnold Munnich
[Preimplantation genetic diagnosis: update of the Parisian group].
Bulletin de l'Académie nationale de médecine 2002;186(5):865-75; discussion 875-8.
2002: Agnès Rötig; Arnold Munnich; Pierre Rustin
Expressed sequence tag database screening for identification of human genes.
Methods in enzymology 2002;353():566-74.
2002: Géraldine Viot; Didier Lacombe; Albert David; Michèle Mathieu; Alain de Broca; Laurence Faivre; Nadine Gigarel; Arnold Munnich; Stanislas LYONNET; Martine Le Merrer; Valérie Cormier-Daire
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.
American journal of medical genetics 2002;107(1):1-4.
2002: Pierre F Ray; Arnold Munnich; Israel Nisand; René Frydman; Michel Vekemans; Stéphane Viville
The place of 'social sexing' in medicine and science.
Human reproduction (Oxford, England) 2002;17(1):248-9.
2001: B Campos-Xavier; J M Saraiva; R Savarirayan; Alain Verloes; JOSUE FEINGOLD; Laurence Faivre; Arnold Munnich; Martine Le Merrer; Valérie Cormier-Daire
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.
Human genetics 2001;109(6):653-8.
2001: Jeanne Amiel; Valérie Raclin; J M Jouannic; N Morichon; H Hoffman-Radvanyi; M Dommergues; JOSUE FEINGOLD; Arnold Munnich; Jean-Paul Bonnefont
Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy.
Journal of medical genetics 2001;38(12):850-2.
2001: Sue Kenwrick; Hayley Woffendin; Tracy J Jakins; S G Shuttleworth; E Mayer; L Greenhalgh; J Whittaker; S Rugolotto; Tiziana Bardaro; Teresa Esposito; Michele D'Urso; F Soli; A Turco; Asma Smahi; Dominique Hamel-Teillac; Stanislas LYONNET; Jean-Paul Bonnefont; Arnold Munnich; Swaroop Aradhya; C D Kashork; Lisa Shaffer; David L Nelson; M Levy; R A Lewis
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.
American journal of human genetics 2001;69(6):1210-7.
2001: Jeanne Amiel; Yolanda Espinosa-Parrilla; Julie Steffann; P Gosset; Anna Pelet; Marguerite Prieur; Odile Boute; A Choiset; Didier Lacombe; N Philip; Martine Le Merrer; H Tanaka; M Till; Renaud Touraine; Annick Toutain; Michel Vekemans; Arnold Munnich; Stanislas LYONNET
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.
American journal of human genetics 2001;69(6):1370-7.
2001: Laurence Faivre; Martine Le Merrer; Clarisse Baumann; M Polak; P Chatelain; V Sulmont; J Cousin; Michel Bost; M P Cordier; E Zackai; K Russell; Georges Finidori; Jean-Claude Pouliquen; Arnold Munnich; Pierre Maroteaux; Valérie Cormier-Daire
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
Journal of medical genetics 2001;38(11):745-9.
2001: Swaroop Aradhya; Tiziana Bardaro; P Galgóczy; Takanori Yamagata; Teresa Esposito; H Patlan; Alfredo Ciccodicola; Arnold Munnich; Sue Kenwrick; Matthias Platzer; Michele D'Urso; David L Nelson
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes.
Human molecular genetics 2001;10(22):2557-67.
2001: M Holder-Espinasse; Marie-Christine De Blois; Laurence Faivre; Serge Romana; Y Uteza; Arnold Munnich; Stanislas LYONNET; Valérie Cormier-Daire; Jeanne Amiel
Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report.
Clinical dysmorphology 2001;10(4):253-5.
2001: M Holder-Espinasse; Véronique Abadie; Valérie Cormier-Daire; Constance Beyler; Yves Manach; Arnold Munnich; Stanislas LYONNET; Gérard Couly; Jeanne Amiel
Pierre Robin sequence: a series of 117 consecutive cases.
The Journal of pediatrics 2001;139(4):588-90.
2001: Swaroop Aradhya; Hayley Woffendin; Tracy J Jakins; Tiziana Bardaro; Teresa Esposito; Asma Smahi; Chad Shaw; M Levy; Arnold Munnich; Michele D'Urso; R A Lewis; Sue Kenwrick; David L Nelson
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.
Human molecular genetics 2001;10(19):2171-9.
2001: Karine Chantrel-Groussard; Vanna Geromel; H Puccio; M Koenig; Arnold Munnich; Agnès Rötig; Pierre Rustin
Disabled early recruitment of antioxidant defenses in Friedreich's ataxia.
Human molecular genetics 2001;10(19):2061-7.
2001: G Joly; Jean-Michel Lapierre; Catherine Ozilou; Philippe Gosset; A Aurias; Marie-Christine De Blois; Marguerite Prieur; Odile Raoul; Laurence Colleaux; Arnold Munnich; Serge Romana; Michel Vekemans; Catherine Turleau
Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype.
Clinical genetics 2001;60(3):212-9.
2001: Hélène De Leersnyder; Marie-Christine De Blois; Michel Vekemans; Daniel Sidi; E Villain; Catherine Kindermans; Arnold Munnich
beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome.
Journal of medical genetics 2001;38(9):586-90.
2001: Pascale de Lonlay; Isabelle Valnot; Antoni Barrientos; M Gorbatyuk; Alexander Tzagoloff; Jan-Willem Taanman; E Benayoun; Dominique Chrétien; Noman Kadhom; Anne Lombès; Hélène Ogier de Baulny; Patrick Niaudet; Arnold Munnich; Pierre Rustin; Agnès Rötig
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
Nature genetics 2001;29(1):57-60.
2001: Jeanne Amiel; Gaëlle Bougeard; C Francannet; Valérie Raclin; Arnold Munnich; Stanislas LYONNET; Thierry Frebourg
TP63 gene mutation in ADULT syndrome.
European journal of human genetics : EJHG 2001;9(8):642-5.
2001: Sylvie Gerber; Isabelle Perrault; Sylvain Hanein; Fabienne Barbet; Dominique Ducroq; I Ghazi; D Martin-Coignard; Corinne Leowski; T Homfray; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.
European journal of human genetics : EJHG 2001;9(8):561-71.
2001: Vanna Geromel; Noman Kadhom; Irène Ceballos-Picot; Dominique Chrétien; Arnold Munnich; Agnès Rötig; Pierre Rustin
Human cultured skin fibroblasts survive profound inherited ubiquinone depletion.
Free radical research 2001;35(1):11-21.
2001: Jeanne Amiel; Nadine Gigarel; A Benacki; Paule Benit; Isabelle Valnot; B Parfait; Jürgen-Christoph von Kleist-Retzow; Valérie Raclin; Smaïl Hadj-Rabia; Yves Dumez; Pierre Rustin; Jean-Paul Bonnefont; Arnold Munnich; Agnès Rötig
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
Prenatal diagnosis 2001;21(7):602-4.
2001: Laurence Faivre; Valérie Cormier-Daire; David Geneviève; Graziella Pinto; O Goulet; Arnold Munnich; P Maroteaux; Martine Le Merrer
A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia.
Clinical dysmorphology 2001;10(3):181-4.
2001: Hélène De Leersnyder; Marie-Christine De Blois; Bruno Claustrat; Serge Romana; U Albrecht; Jürgen-Christoph von Kleist-Retzow; Bruno Delobel; Géraldine Viot; Stanislas LYONNET; Michel Vekemans; Arnold Munnich
Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome.
The Journal of pediatrics 2001;139(1):111-6.
2001: M Gauthier-Villars; P Landrieu; Valérie Cormier-Daire; Emmanuel Jacquemin; Dominique Chrétien; Agnès Rötig; Pierre Rustin; Arnold Munnich; Pascale de Lonlay
Respiratory chain deficiency in Alpers syndrome.
Neuropediatrics 2001;32(3):150-2.
2001: Marlène Rio; Catherine Ozilou; Valérie Cormier-Daire; Catherine Turleau; Marguerite Prieur; Michel Vekemans; P Chauveau; Arnold Munnich; Laurence Colleaux
Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.
Human genetics 2001;108(6):511-5.
2001: Paule Bénit; Dominique Chretien; Noman Kadhom; Pascale De Lonlay-Debeney; Valérie Cormier-Daire; A Cabral; Sylviane Peudenier; Pierre Rustin; Arnold Munnich; Agnès Rötig
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
American journal of human genetics 2001;68(6):1344-52.
2001: Agi K Gedeon; George E Tiller; Martine Le Merrer; Solange Heuertz; L Tranebjaerg; D Chitayat; S Robertson; I A Glass; Ravi Savarirayan; W G Cole; D L Rimoin; B G Kousseff; H Ohashi; B Zabel; Arnold Munnich; Jozef Gecz; John C Mulley
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
American journal of human genetics 2001;68(6):1386-97.
2001: Vanna Geromel; Noman Kadhom; I Cebalos-Picot; Olivier Ouari; Ange Polidori; Arnold Munnich; Agnès Rötig; Pierre Rustin
Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.
Human molecular genetics 2001;10(11):1221-8.
2001: Laurence Colleaux; Marlène Rio; Solange Heuertz; S Moindrault; Catherine Turleau; Catherine Ozilou; Philippe Gosset; O Raoult; Stanislas LYONNET; Valérie Cormier-Daire; Jeanne Amiel; Martine Le Merrer; Monique Picq; Marie-Christine De Blois; Marguerite Prieur; Serge Romana; F Cornelis; Michel Vekemans; Arnold Munnich
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.
European journal of human genetics : EJHG 2001;9(5):319-27.
2001: Pierre F Ray; Michel Vekemans; Arnold Munnich
Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination.
Molecular human reproduction 2001;7(5):489-94.
2001: Jean-Michel Rozet; Isabelle Perrault; Sylvie Gerber; Sylvain Hanein; Fabienne Barbet; Dominique Ducroq; Eric H Souied; Arnold Munnich; Josseline Kaplan
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).
Investigative ophthalmology & visual science 2001;42(6):1190-2.
2001: Pascale Saugier-Veber; Nathalie Drouot; Suzie Lefebvre; Frédéric Charbonnier; Elodie Vial; Arnold Munnich; Thierry Frébourg
Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method.
Journal of medical genetics 2001;38(4):240-3.
2001: Paule Bénit; Jean-Paul Bonnefont; A Kara-Mostefa; C Francannet; Arnold Munnich; Pierre F Ray
Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis.
Prenatal diagnosis 2001;21(4):279-83.
2001: Vincent El Ghouzzi; Laurence Legeai-Mallet; Catherine Benoist-Lasselin; Elizabeth Lajeunie; Dominique Renier; Arnold Munnich; Jacky Bonaventure
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome.
FEBS letters 2001;492(1-2):112-8.
2001: Agnès Rötig; Karine Chantrel-Groussard; Arnold Munnich; Pierre Rustin
Expression study of genes involved in iron metabolism in human tissues.
Biochemical and biophysical research communications 2001;281(3):804-9.
2001: Rainer Döffinger; Asma Smahi; Christine Bessia; Frederic Geissmann; Jacqueline Feinberg; Anne Durandy; Christine Bodemer; Sue Kenwrick; Sophie Dupuis-Girod; Stéphane Blanche; P Wood; S H Rabia; Denis J Headon; Paul A Overbeek; Françoise Le Deist; Steven M Holland; K Belani; Dinakantha S Kumararatne; Alain Fischer; R Shapiro; M E Conley; E Reimund; H Kalhoff; M Abinun; Arnold Munnich; Alain Israël; Gilles Courtois; Jean-Laurent Casanova
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Nature genetics 2001;27(3):277-85.
2001: Laurence Faivre; Annie Nivelon-Chevallier; M L Kottler; C Robinet; Philippe Khau van Kien; B Lorcerie; Arnold Munnich; P Maroteaux; Valérie Cormier-Daire; Martine LeMerrer
Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome.
American journal of medical genetics 2001;99(2):132-6.
2001: Jeanne Amiel; T Attieé-Bitach; Rémi Marianowski; Valérie Cormier-Daire; Véronique Abadie; Damien Bonnet; Marie Gonzales; S Chemouny; Francis Brunelle; Arnold Munnich; Yves Manach; Stanislas LYONNET
Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome.
American journal of medical genetics 2001;99(2):124-7.
2001: B Imessaoudene; Jean-Paul Bonnefont; Ghislaine Royer; Valérie Cormier-Daire; Stanislas LYONNET; G Lyon; Arnold Munnich; Jeanne Amiel
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.
Journal of medical genetics 2001;38(3):171-4.
2001: Jürgen-Christoph von Kleist-Retzow; J Yao; Jan-Willem Taanman; K Chantrel; Dominique Chretien; Valérie Cormier-Daire; Agnès Rotig; Arnold Munnich; Pierre Rustin; E A Shoubridge
Mutations in SURF1 are not specifically associated with Leigh syndrome.
Journal of medical genetics 2001;38(2):109-13.
2001: Valérie Cormier-Daire; Céline Huber; Arnold Munnich
Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome).
American journal of medical genetics 2001;106(4):272-4.
2001: Arnold Munnich; Pierre Rustin
Clinical spectrum and diagnosis of mitochondrial disorders.
American journal of medical genetics 2001;106(1):4-17.
2001: Jeanne Amiel; L Faivre; R Marianowskl; Damien Bonnet; Gérard Couly; Yves Manach; M Le Merrer; Valérie Cormier-Daire; Arnold Munnich; Stanislas LYONNET
Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases.
Clinical dysmorphology 2001;10(1):15-8.
2000: Pierre F Ray; Nadine Gigarel; Jean-Paul Bonnefont; Tania Attié; Samir Hamamah; Frydman Nelly; Michel Vekemans; René Frydman; Arnold Munnich
First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency.
Prenatal diagnosis 2000;20(13):1048-54.
2000: Laurence Faivre; A M Prieur; Martine Le Merrer; F Hayem; C Penet; P Woo; M Hofer; Nathalie Dagoneau; I Sermet; Arnold Munnich; Valérie Cormier-Daire
Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
American journal of medical genetics 2000;95(3):233-6.
2000: Jeanne Amiel; Sophie Audollent; D Joly; Pascal Dureau; Rémi Salomon; AL Tellier; Joëlle Augé; François Bouissou; Corinne Antignac; Marie-Claire Gubler; Michael Eccles; Arnold Munnich; Michel Vekemans; Stanislas LYONNET; Tania Attié-Bitach
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.
European journal of human genetics : EJHG 2000;8(11):820-6.
2000: Anna Tullio-Pelet; Rémi Salomon; Smaïl Hadj-Rabia; Claude Mugnier; marc-Henri de laet; Beji Chaouachi; F Bakiri; Phillipe Brottier; Laurence Cattolico; C Penet; Martine Bégeot; Danielle Naville; Marc Nicolino; Jean-Louis Chaussain; Jean Weissenbach; Arnold Munnich; Stanislas LYONNET
Mutant WD-repeat protein in triple-A syndrome.
Nature genetics 2000;26(3):332-5.
2000: Paule Bénit; A Kara-Mostefa; M Berthelon; K Sengmany; Arnold Munnich; Jean-Paul Bonnefont
Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography.
Human mutation 2000;16(5):417-21.
2000: Isabelle Valnot; S Osmond; Nadine Gigarel; B Mehaye; Jeanne Amiel; Valérie Cormier-Daire; Arnold Munnich; Jean-Paul Bonnefont; Pierre Rustin; Agnès Rötig
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
American journal of human genetics 2000;67(5):1104-9.
2000: Valérie Cormier-Daire; Nathalie Dagoneau; Rima Nabbout; L Burglen; C Penet; Christine Soufflet; Isabelle Desguerre; Arnold Munnich; Olivier Dulac
A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.
American journal of human genetics 2000;67(4):991-3.
2000: Swaroop Aradhya; P Ahobila; R A Lewis; David L Nelson; Teresa Esposito; Alfredo Ciccodicola; Tiziana Bardaro; Michele D'Urso; Hayley Woffendin; Sue Kenwrick; Asma Smahi; Solange Heuertz; Arnold Munnich; Nina S Heiss; Annemarie Poustka; Athar H Chishti
Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2.
American journal of medical genetics 2000;94(1):79-84.
2000: Marie-France Gagnadoux; Tania Attié; Jeanne Amiel; Nadine Gigarel; Jean-Paul Bonnefont; Arnold Munnich; Marie-Claire Gubler; Corinne Antignac
[Prenatal diagnosis of autosomal recessive polycystic kidney disease].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2000;7(9):942-7.
2000: Laurence Faivre; Valérie Cormier-Daire; Dominique Chrétien; J Christoph von Kleist-Retzow; Jeanne Amiel; Marc Dommergues; Jean-Marie Saudubray; Yves Dumez; Agnès Rötig; Pierre Rustin; Arnold Munnich
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency.
Prenatal diagnosis 2000;20(9):732-7.
2000: A Belinda; C F Xavier; J M Saraiva; Martine Le Merrer; Nathalie Dagoneau; C Huber; C Penet; Arnold Munnich; Valérie Cormier-Daire
Genetic homogeneity of the Camurati-Engelmann disease.
Clinical genetics 2000;58(2):150-2.
2000: Smaïl Hadj-Rabia; Rémi Salomon; Anna Pelet; C Penet; A Rotschild; M H de Laët; Beji Chaouachi; R Hannachi; F Bakiri; Raja Brauner; Jean-Louis Chaussain; Arnold Munnich; Stanislas LYONNET
Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome.
European journal of human genetics : EJHG 2000;8(8):613-20.
2000: Isabelle Perrault; Jean-Michel Rozet; Sylvie Gerber; I Ghazi; Dominique Ducroq; Eric H Souied; Corinne Leowski; M Bonnemaison; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan
Spectrum of retGC1 mutations in Leber's congenital amaurosis.
European journal of human genetics : EJHG 2000;8(8):578-82.
2000: Laurence Legeai-Mallet; A Rossi; Catherine Benoist-Lasselin; R Piazza; J F Mallet; Anne-Lise Delezoide; Arnold Munnich; Jacky Bonaventure; Louise Zylberberg
EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2000;15(8):1489-500.
2000: Agnès Rötig; EL Appelkvist; Vanna Geromel; Dominique Chretien; Noman Kadhom; P Edery; M Lebideau; Gustav Dallner; Arnold Munnich; L Ernster; Pierre Rustin
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.
Lancet 2000;356(9227):391-5.
2000: AL Tellier; Jeanne Amiel; Anne-Lise Delezoide; Sophie Audollent; Joëlle Augé; D Esnault; Férechté Encha-Razavi; Arnold Munnich; Stanislas LYONNET; Michel Vekemans; Tania Attié-Bitach
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.
American journal of medical genetics 2000;93(2):85-8.
2000: Damien Sanlaville; Marie-Cécile Aubry; Yves Dumez; M C Nolen; Jeanne Amiel; MP Pinson; Stanislas LYONNET; Arnold Munnich; Michel Vekemans; Nicole Morichon-Delvallez
Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up.
Journal of medical genetics 2000;37(7):525-8.
2000: Valérie Cormier-Daire; M L Chauvet; Stanislas LYONNET; Marie Louise Briard; Arnold Munnich; Martine Le Merrer
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.
Journal of medical genetics 2000;37(7):520-4.
2000: Asma Smahi; Gilles Courtois; Pierre VABRES; Shoji Yamaoka; Solange Heuertz; Arnold Munnich; Alain Israël; Nina S Heiss; Sabine M Klauck; Petra Kioschis; S Wiemann; Annemarie Poustka; Teresa Esposito; Tiziana Bardaro; Fernando Gianfrancesco; Alfredo Ciccodicola; Michele D'Urso; Hayley Woffendin; Tracy J Jakins; Dian Donnai; H Stewart; Sue Kenwrick; Swaroop Aradhya; Takanori Yamagata; M Levy; R A Lewis; David L Nelson
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
Nature 2000;405(6785):466-72.
2000: Isabelle Valnot; Jürgen-Christoph von Kleist-Retzow; Antoni Barrientos; M Gorbatyuk; Jan-Willem Taanman; B Mehaye; Pierre Rustin; Alexander Tzagoloff; Arnold Munnich; Agnès Rötig
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.
Human molecular genetics 2000;9(8):1245-9.
2000: Renaud Touraine; Tania Attié-Bitach; Eric Manceau; E Korsch; Pierre Sarda; Veronique Pingault; Férechté Encha-Razavi; Anna Pelet; Joëlle Augé; Annie Nivelon-Chevallier; Alexander M Holschneider; M Munnes; W Doerfler; Michel Goossens; Arnold Munnich; Michel Vekemans; Stanislas LYONNET
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.
American journal of human genetics 2000;66(5):1496-503.
2000: Pierre Rustin; Jürgen-Christoph von Kleist-Retzow; Z Vajo; Agnès Rotig; Arnold Munnich
For debate: defective mitochondria, free radicals, cell death, aging-reality or myth-ochondria?
Mechanisms of ageing and development 2000;114(3):201-6.
2000: Laurence Faivre; Géraldine Viot; Marguerite Prieur; Catherine Turleau; P Gosset; Serge Romana; Arnold Munnich; M Vekemans; Valérie Cormier-Daire
Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism.
American journal of medical genetics 2000;91(4):273-6.
2000: Vincent El Ghouzzi; Laurence Legeai-Mallet; Sandra Aresta; C Benoist; Arnold Munnich; Jean de Gunzburg; Jacky Bonaventure
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location.
Human molecular genetics 2000;9(5):813-9.
2000: Swaroop Aradhya; David L Nelson; Nina S Heiss; Annemarie Poustka; Hayley Woffendin; Sue Kenwrick; Teresa Esposito; Alfredo Ciccodicola; Tiziana Bardaro; Michele D'Urso; Asma Smahi; Arnold Munnich; G E Herman; Richard Alan Lewis
Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2.
American journal of medical genetics 2000;91(3):241-4.
2000: Jürgen-Christoph von Kleist-Retzow; Karine Chantrel-Groussard; Agnès Rötig; Arnold Munnich; Pierre Rustin
[Friedreich ataxia. 3 years after the identification of the gene a glimmer of hope for therapy].
Deutsche medizinische Wochenschrift (1946) 2000;125(10):293-5.
2000: Agnès Rötig; Isabelle Valnot; Claude Mugnier; Pierre Rustin; Arnold Munnich
Screening human EST database for identification of candidate genes in respiratory chain deficiency.
Molecular genetics and metabolism 2000;69(3):223-32.
2000: B Parfait; Dominique Chretien; Agnès Rötig; Cécile Marsac; Arnold Munnich; Pierre Rustin
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.
Human genetics 2000;106(2):236-43.
2000: Pascale De Lonlay-Debeney; Jürgen-Christoph von Kleist-Retzow; Lucie Hertz-Pannier; Sylviane Peudenier; Valérie Cormier-Daire; P Berquin; Dominique Chrétien; Agnès Rötig; Jean-Marie Saudubray; J Baraton; Francis Brunelle; Pierre Rustin; M Van Der Knaap; Arnold Munnich
Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.
The Journal of pediatrics 2000;136(2):209-14.
2000: Jeanne Amiel; Rémi Salomon; Tania Attié-Bitach; Renaud Touraine; Julie Steffann; Anna Pelet; C Nihoul-Fékété; Michel Vekemans; Arnold Munnich; Stanislas LYONNET
[Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy].
Journal de la Société de biologie 2000;194(3-4):125-8.
2000: Laurence Faivre; Isabelle Radford; Géraldine Viot; P Edery; Arnold Munnich; M Tardieu; Michel Vekemans
Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q.
Annales de génétique 2000;43(1):35-8.
2000: Laurence Faivre; Martine Le Merrer; A Megarbane; B Gilbert; Geert R Mortier; Véronica Cusin; Arnold Munnich; P Maroteaux; Valérie Cormier-Daire
Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.
Journal of medical genetics 2000;37(1):52-4.
1999: Valérie Cormier-Daire; V Belin; Véronica Cusin; Géraldine Viot; D Girlich; Annick Toutain; Anne Moncla; Michel Vekemans; Martine Le Merrer; Arnold Munnich
SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.
Acta paediatrica (Oslo, Norway : 1992). Supplement 1999;88(433):55-9.
1999: Nina S Heiss; Annemarie Poustka; Stuart W Knight; Swaroop Aradhya; David L Nelson; R A Lewis; Teresa Esposito; Alfredo Ciccodicola; Michele D'Urso; Asma Smahi; Solange Heuertz; Arnold Munnich; Pierre VABRES; Hayley Woffendin; Sue Kenwrick
Mutation analysis of the DKC1 gene in incontinentia pigmenti.
Journal of medical genetics 1999;36(11):860-2.
1999: Jean-Michel Rozet; Sylvie Gerber; Eric H Souied; Dominique Ducroq; Isabelle Perrault; I Ghazi; Gisele SOUBRANE; Gabriel Coscas; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan
The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly.
Molecular genetics and metabolism 1999;68(2):310-5.
1999: Isabelle Perrault; Jean-Michel Rozet; Sylvie Gerber; I Ghazi; Corinne Leowski; Dominique Ducroq; Eric H Souied; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan
Leber congenital amaurosis.
Molecular genetics and metabolism 1999;68(2):200-8.
1999: Eric H Souied; Dominique Ducroq; Jean-Michel Rozet; Sylvie Gerber; Isabelle Perrault; M Sterkers; Nathanael Benhamou; Arnold Munnich; Gabriel Coscas; Gisele SOUBRANE; J Kaplan
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus.
Investigative ophthalmology & visual science 1999;40(11):2740-4.
1999: Jürgen-Christoph von Kleist-Retzow; Elodie Vial; Karine Chantrel-Groussard; Agnès Rötig; Arnold Munnich; Pierre Rustin; Jan-Willem Taanman
Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency.
Biochimica et biophysica acta 1999;1455(1):35-44.
1999: Jeanne Amiel; Pascale de Lonlay; C Francannet; A Picard; H Bruel; Daniel Rabier; Martine Le Merrer; Nanda M Verhoeven; C Jakobs; Stanislas LYONNET; Arnold Munnich
Facial anomalies in D-2-hydroxyglutaric aciduria.
American journal of medical genetics 1999;86(2):124-9.
1999: Pierre Rustin; Jürgen-Christoph von Kleist-Retzow; Karine Chantrel-Groussard; Daniel Sidi; Arnold Munnich; Agnès Rötig
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study.
Lancet 1999;354(9177):477-9.
1999: C Picard; Sophie Couderc; taraneh shojaei; R Salomon; Pascale de Lonlay; Martine Le Merrer; Arnold Munnich; Stanislas LYONNET; Jeanne Amiel
Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement.
Clinical genetics 1999;56(2):170-2.
1999: Eric H Souied; Dominique Ducroq; Sylvie Gerber; I Ghazi; Jean-Michel Rozet; Isabelle Perrault; Arnold Munnich; Jean-Louis Dufier; Gabriel Coscas; Gisele SOUBRANE; Josseline Kaplan
Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study.
American journal of ophthalmology 1999;128(2):173-8.
1999: Jeanne Amiel; Valérie Cormier-Daire; Pierre Journeau; P Mussat; Arnold Munnich; Stanislas LYONNET
Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?
Journal of medical genetics 1999;36(7):561-4.
1999: Jean-Michel Rozet; Sylvie Gerber; I Ghazi; Isabelle Perrault; Dominique Ducroq; Eric H Souied; A Cabot; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.
Journal of medical genetics 1999;36(6):447-51.
1999: Isabelle Valnot; J Kassis; Dominique Chretien; Pascale de Lonlay; B Parfait; Arnold Munnich; J Kachaner; Pierre Rustin; Agnès Rötig
A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency.
Human genetics 1999;104(6):460-6.
1999: A Kara-Mostefa; O Raoul; Stanislas LYONNET; J Amiel; Arnold Munnich; M Vekemans; S Magnier; B Ossareh; Jean-Paul Bonnefont
Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism.
American journal of human genetics 1999;64(5):1475-8.
1999: Solange Bertrandy; Philippe Burlet; Olivier Clermont; Céline Huber; C Fondrat; D Thierry-Mieg; Arnold Munnich; Suzie Lefebvre
The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution.
Human molecular genetics 1999;8(5):775-82.
1999: Isabelle Perrault; Jean-Michel Rozet; I Ghazi; Corinne Leowski; M Bonnemaison; Sylvie Gerber; Dominique Ducroq; A Cabot; Eric H Souied; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
American journal of human genetics 1999;64(4):1225-8.
1999: A Cabot; Jean-Michel Rozet; Sylvie Gerber; Isabelle Perrault; Dominique Ducroq; A Smahi; Eric H Souied; Arnold Munnich; Josseline Kaplan
A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.
American journal of human genetics 1999;64(4):1141-6.
1999: Laurence Faivre; Nicole Morichon-Delvallez; Géraldine Viot; A Larget-Piet; F Narcy; Catherine Turleau; MP Pinson; Yves Dumez; Arnold Munnich; Michel Vekemans
Prenatal diagnosis of a satellited non-acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literature.
Prenatal diagnosis 1999;19(3):282-6.
1999: Pascale De Lonlay-Debeney; P Edery; Valérie Cormier-Daire; B Parfait; Dominique Chrétien; Agnès Rötig; N Romero; Jean-Marie Saudubray; Arnold Munnich; Pierre Rustin
Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood.
Neuropediatrics 1999;30(1):42-4.
1999: Laurence Faivre; Anne-Lise Delezoide; F Narcy; F Razavi; R Bouvier; Valérie Cormier-Daire; Marie Louise Briard; Stanislas LYONNET; Michel Vekemans; Arnold Munnich; Martine Le Merrer
A new lethal syndrome of exomphalos, short limbs, and macrogonadism.
Journal of medical genetics 1999;36(2):131-6.
1999: Lekbir Baala; Smaïl Hadj-Rabia; Joël Zlotogora; K Kabbaj; H Chhoul; Arnold Munnich; Stanislas LYONNET; abdelaziz sefiani
Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13.
American journal of human genetics 1999;64(2):651-3.
1999: Christine Bodemer; Agnès Rötig; Pierre Rustin; V Cormier; Patrick Niaudet; Jean-Marie Saudubray; Daniel Rabier; Arnold Munnich; Yves de Prost
Hair and skin disorders as signs of mitochondrial disease.
Pediatrics 1999;103(2):428-33.
1999: Paule Bénit; A Kara-Mostefa; Smaïl Hadj-Rabia; Arnold Munnich; Jean-Paul Bonnefont
Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations.
Human mutation 1999;14(5):428-32.
1999: Pierre Rustin; Arnold Munnich; Agnès Rötig
Quinone analogs prevent enzymes targeted in Friedreich ataxia from iron-induced injury in vitro.
BioFactors (Oxford, England) 1999;9(2-4):247-51.
1999: Stanislas LYONNET; N Morichon; Marc Dommergues; Y Dumez; Marie Louise Briard; Michel Vekemans; Arnold Munnich
[Contribution of genetics].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1999;6 Suppl 2():246s-248s.
1999: Vincent El Ghouzzi; Elizabeth Lajeunie; Martine Le Merrer; Valérie Cormier-Daire; Dominique Renier; Arnold Munnich; Jacky Bonaventure
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.
European journal of human genetics : EJHG 1999;7(1):27-33.
1999: Laurence Faivre; Nicole Morichon-Delvallez; Géraldine Viot; Jelena Martinovic; MP Pinson; Jean-Pierre Aubry; Valérie Raclin; P Edery; Yves Dumez; Arnold Munnich; Michel Vekemans
Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature.
Prenatal diagnosis 1999;19(1):49-53.
1999: B Parfait; Pascale de Lonlay; Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Dominique Chrétien; Agnès Rötig; Daniel Rabier; Jean-Marie Saudubray; Pierre Rustin; Arnold Munnich
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.
European journal of pediatrics 1999;158(1):55-8.
1998: Tania Attié-Bitach; marc Mordekhaï ABITBOL; M Gérard; Anne-Lise Delezoide; Joëlle Augé; Anna Pelet; Jeanne Amiel; V Pachnis; Arnold Munnich; Stanislas LYONNET; Michel Vekemans
Expression of the RET proto-oncogene in human embryos.
American journal of medical genetics 1998;80(5):481-6.
1998: Eric H Souied; Pascale Benlian; Jean-Michel Rozet; Sylvie Gerber; JP Lagarde; Gabriel Coscas; Gisele SOUBRANE; J L Duffier; Arnold Munnich; Josseline Kaplan
Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa.
Vision research 1998;38(24):3829-31.
1998: Pascale De Lonlay-Debeney; Marie-Christine De Blois; Damien Bonnet; Jeanne Amiel; Véronique Abadie; Monique Picq; Stanislas LYONNET; Daniel Sidi; Arnold Munnich; Michel Vekemans; Valérie Cormier-Daire
Ebstein anomaly associated with rearrangements of chromosomal region 11q.
American journal of medical genetics 1998;80(2):157-9.
1998: Rémi Salomon; Jeanne Amiel; Tania Attié; Anna Pelet; Arnold Munnich; Stanislas LYONNET
[From monogenic to polygenic: model of Hirschsprung disease].
Pathologie-biologie 1998;46(9):705-7.
1998: Laurence Iserin; Pascale de Lonlay; Géraldine Viot; Daniel Sidi; Jean Kachaner; Arnold Munnich; Stanislas LYONNET; Michel Vekemans; Damien Bonnet
Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies.
European journal of pediatrics 1998;157(11):881-4.
1998: Philippe Burlet; Céline Huber; Solange Bertrandy; Marie-Aline Ludosky; Ingrid Zwaenepoel; Olivier Clermont; Joelle Roume; Anne-Lise Delezoide; Jean Cartaud; Arnold Munnich; Suzie Lefebvre
The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy.
Human molecular genetics 1998;7(12):1927-33.
1998: Laurence Faivre; Nicole Morichon-Delvallez; Géraldine Viot; F Narcy; S Loison; L Mandelbrot; Marie-Cécile Aubry; Valérie Raclin; P Edery; Arnold Munnich; Michel Vekemans
Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature.
Prenatal diagnosis 1998;18(10):1055-60.
1998: Joelle Roume; Emmanuelle Genin; Valérie Cormier-Daire; H W Ma; B Mehaye; T Attie; F Razavi-Encha; Catherine Fallet-Bianco; A Buenerd; Françoise Clerget-Darpoux; Arnold Munnich; Martine Le Merrer
A gene for Meckel syndrome maps to chromosome 11q13.
American journal of human genetics 1998;63(4):1095-101.
1998: Pierre VABRES; P de Lonlay; J Amiel; Stanislas LYONNET; Arnold Munnich; Yves de Prost
[Angiomatous and cerulodermic macules: early cutaneous signs of neurofibromatosis type I].
Annales de dermatologie et de vénéréologie 1998;125(9):593-4.
1998: Anne-Lise Delezoide; Catherine Benoist-Lasselin; Laurence Legeai-Mallet; Martine Le Merrer; Arnold Munnich; Michel Vekemans; Jacky Bonaventure
Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification.
Mechanisms of development 1998;77(1):19-30.
1998: B Doray; Rémi Salomon; Jeanne Amiel; Anna Pelet; Renaud Touraine; Marc Billaud; Tania Attié; B Bachy; Arnold Munnich; Stanislas LYONNET
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.
Human molecular genetics 1998;7(9):1449-52.
1998: Isabelle Perrault; Jean-Michel Rozet; Sylvie Gerber; RE Kelsell; Eric H Souied; A Cabot; David Hunt; Arnold Munnich; Josseline Kaplan
A retGC-1 mutation in autosomal dominant cone-rod dystrophy.
American journal of human genetics 1998;63(2):651-4.
1998: Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Pascale de Lonlay; B Parfait; Dominique Chretien; Pierre Rustin; J Feingold; Agnès Rötig; Arnold Munnich
A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.
American journal of human genetics 1998;63(2):428-35.
1998: Valérie Cormier-Daire; andrea superti-furga; Arnold Munnich; Stanislas LYONNET; P Rustin; Anne-Lise Delezoide; P De Lonlay; Andres Giedion; Pierre Maroteaux; Martine Le Merrer
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.
American journal of medical genetics 1998;78(2):146-9.
1998: B Parfait; Pierre Rustin; Arnold Munnich; Agnès Rötig
Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations.
Biochemical and biophysical research communications 1998;247(1):57-9.
1998: Daniel Rabier; C Diry; A Rotig; Pierre Rustin; B Heron; J Bardet; P Parvy; Gérard Ponsot; Cécile Marsac; Jean-Marie Saudubray; Arnold Munnich; Pierre Kamoun
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
Journal of inherited metabolic disease 1998;21(3):216-9.
1998: M Collinet; M Berthelon; Paule Bénit; Kathleen Laborde; Bernard Desbuquois; Arnold Munnich; Jean-Jacques Robert
Familial hyperproinsulinaemia due to a mutation substituting histidine for arginine at position 65 in proinsulin: identification of the mutation by restriction enzyme mapping.
European journal of pediatrics 1998;157(6):456-60.
1998: Laurence Legeai-Mallet; Catherine Benoist-Lasselin; Anne-Lise Delezoide; Arnold Munnich; Jacky Bonaventure
Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia.
The Journal of biological chemistry 1998;273(21):13007-14.
1998: Jean-Michel Rozet; Sylvie Gerber; Eric H Souied; Isabelle Perrault; S Châtelin; I Ghazi; Corinne Leowski; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
European journal of human genetics : EJHG 1998;6(3):291-5.
1998: Damien Bonnet; Pascale de Lonlay; I Gautier; Pierre Rustin; Agnès Rötig; Jean Kachaner; Philippe Acar; J LeBidois; Arnold Munnich; Daniel Sidi
Efficiency of metabolic screening in childhood cardiomyopathies.
European heart journal 1998;19(5):790-3.
1998: V Belin; Véronica Cusin; Géraldine Viot; D Girlich; Annick Toutain; Anne Moncla; Michel Vekemans; Martine Le Merrer; Arnold Munnich; Valérie Cormier-Daire
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
Nature genetics 1998;19(1):67-9.
1998: AL Tellier; Valérie Cormier-Daire; Véronique Abadie; Jeanne Amiel; Sabine Sigaudy; Damien Bonnet; Pascale De Lonlay-Debeney; M P Morrisseau-Durand; P Hubert; J L Michel; Dominique M. Jan; Hélène Dollfus; Clarisse Baumann; P Labrune; Didier Lacombe; N Philip; M LeMerrer; Marie Louise Briard; Arnold Munnich; Stanislas LYONNET
CHARGE syndrome: report of 47 cases and review.
American journal of medical genetics 1998;76(5):402-9.
1998: G Viot-Szoboszlai; Jeanne Amiel; François Doz; Marguerite Prieur; J Couturier; J N Zucker; I Henry; Arnold Munnich; Michel Vekemans; Stanislas LYONNET
Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome.
Clinical genetics 1998;53(4):278-80.
1998: Anna Pelet; O Geneste; P Edery; A Pasini; S Chappuis; T Atti; Arnold Munnich; G Lenoir; Stanislas LYONNET; Marc Billaud
Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.
The Journal of clinical investigation 1998;101(6):1415-23.
1998: Isabelle Perrault; S Châtelin; Vanessa Nancy; Jean-Michel Rozet; Sylvie Gerber; I Ghazi; Eric H Souied; Jean-Louis Dufier; Arnold Munnich; Jean de Gunzburg; Josseline Kaplan
Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosis.
Human genetics 1998;102(3):322-6.
1998: Jeanne Amiel; Rémi Salomon; Tania Attié; Anna Pelet; Ha Trang; M Mokhtari; Claude Gaultier; Arnold Munnich; Stanislas LYONNET
Mutations of the RET-GDNF signaling pathway in Ondine's curse.
American journal of human genetics 1998;62(3):715-7.
1998: S Gerber; J M Rozet; T J R van de Pol; Carel B Hoyng; Arnold Munnich; Anita Blankenagel; J Kaplan; Frans P M Cremers
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.
Genomics 1998;48(1):139-42.
1998: Massimo Chessa; Gianfranco Butera; Philipp Bonhoeffer; Laurence Iserin; Jean Kachaner; Stanislas LYONNET; Arnold Munnich; Daniel Sidi; Damien Bonnet
Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect.
Heart (British Cardiac Society) 1998;79(2):186-90.
1998: Dominique Chretien; J Gallego; Antoni Barrientos; J Casademont; F Cardellach; Arnold Munnich; Agnès Rötig; Pierre Rustin
Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes.
The Biochemical journal 1998;329 ( Pt 2)():249-54.
1998: Jean-Michel Rozet; Sylvie Gerber; Isabelle Perrault; Patrick Calvas; Eric H Souied; S Châtelin; D Molina-Gomez; Arnold Munnich; Josseline Kaplan
Structure and refinement of the physical mapping of the gamma- glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesothelioma.
Cytogenetics and cell genetics 1998;82(1-2):91-4.
1998: Suzie Lefebvre; L Bürglen; J Frézal; Arnold Munnich; Judith Melki
The role of the SMN gene in proximal spinal muscular atrophy.
Human molecular genetics 1998;7(10):1531-6.
1998: Patrick Calvas; B Ségues; Jean-Michel Rozet; D Rabier; J P Bonnefond; Arnold Munnich
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.
Human mutation 1998;Suppl 1():S81-4.
1997: Joelle Roume; H W Ma; Martine Le Merrer; Valérie Cormier-Daire; D Girlich; Emmanuelle Genin; Arnold Munnich
Genetic heterogeneity of Meckel syndrome.
Journal of medical genetics 1997;34(12):1003-6.
1997: Pascale De Lonlay-Debeney; Valérie Cormier-Daire; Jeanne Amiel; Véronique Abadie; Sylvie Odent; Alain Paupe; Sophie Couderc; AL Tellier; Damien Bonnet; Marguerite Prieur; Michel Vekemans; Arnold Munnich; Stanislas LYONNET
Features of DiGeorge syndrome and CHARGE association in five patients.
Journal of medical genetics 1997;34(12):986-9.
1997: B Parfait; A Percheron; Dominique Chretien; Pierre Rustin; Arnold Munnich; Agnès Rötig
No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.
Human genetics 1997;101(2):247-50.
1997: Eric H Souied; B Segues; I Ghazi; Jean-Michel Rozet; S Chatelin; Sylvie Gerber; Isabelle Perrault; A Michel-Awad; M L Briard; G Plessis; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan
Severe manifestations in carrier females in X linked retinitis pigmentosa.
Journal of medical genetics 1997;34(10):793-7.
1997: Agnès Rötig; Pascale de Lonlay; Dominique Chretien; F Foury; M Koenig; Daniel Sidi; Arnold Munnich; Pierre Rustin
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
Nature genetics 1997;17(2):215-7.
1997: Anne-Lise Delezoide; C Lasselin-Benoist; Laurence Legeai-Mallet; P Brice; V Senée; A Yayon; Arnold Munnich; Michel Vekemans; Jacky Bonaventure
Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses.
Human molecular genetics 1997;6(11):1899-906.
1997: Pierre Rustin; Dominique Chretien; B Parfait; Agnès Rötig; Arnold Munnich
Nicotinamide adenine dinucleotides permeate through mitochondrial membranes in human Epstein-Barr virus-transformed lymphocytes.
Molecular and cellular biochemistry 1997;174(1-2):115-9.
1997: Pierre Rustin; Thomas Bourgeron; B Parfait; Dominique Chretien; Arnold Munnich; Agnès Rötig
Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human.
Biochimica et biophysica acta 1997;1361(2):185-97.
1997: Vanna Geromel; B Parfait; Jürgen-Christoph von Kleist-Retzow; Dominique Chretien; Arnold Munnich; Agnès Rötig; Pierre Rustin
The consequences of a mild respiratory chain deficiency on substrate competitive oxidation in human mitochondria.
Biochemical and biophysical research communications 1997;236(3):643-6.
1997: Agnès Rötig; B Parfait; L Heidet; G Dujardin; Pierre Rustin; Arnold Munnich
Sequence and structure of the human OXA1L gene and its upstream elements.
Biochimica et biophysica acta 1997;1361(1):6-10.
1997: C Bidaud; Rémi Salomon; G Van Camp; Anna Pelet; Tania Attié; C Eng; M Bonduelle; Jeanne Amiel; C Nihoul-Fékété; P J Willems; Arnold Munnich; Stanislas LYONNET
Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.
European journal of human genetics : EJHG 1997;5(4):247-51.
1997: Suzie Lefebvre; Philippe Burlet; Q Liu; Solange Bertrandy; Olivier Clermont; Arnold Munnich; G Dreyfuss; Judith Melki
Correlation between severity and SMN protein level in spinal muscular atrophy.
Nature genetics 1997;16(3):265-9.
1997: A Hanash; Eric LeGuern; Nazha Birouk; Olivier Clermont; J Pouget; Pierre Bouche; Arnold Munnich; Alexis Brice; Judith Melki
SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.
Journal of medical genetics 1997;34(6):507-8.
1997: P Edery; C Eng; Arnold Munnich; Stanislas LYONNET
RET in human development and oncogenesis.
BioEssays : news and reviews in molecular, cellular and developmental biology 1997;19(5):389-95.
1997: Valérie Cormier-Daire; Martine Le Merrer; Nadine Gigarel; N Morichon; Marguerite Prieur; Stanislas LYONNET; Michel Vekemans; Arnold Munnich
Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome.
American journal of medical genetics 1997;69(2):166-8.
1997: L Legeai-Mallet; Patricia Margaritte-Jeannin; M Lemdani; Martine Le Merrer; H Plauchu; Pierre Maroteaux; Arnold Munnich; Françoise Clerget-Darpoux
An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses.
Human genetics 1997;99(3):298-302.
1997: Louis Viollet; Solange Bertrandy; A L Bueno Brunialti; Suzie Lefebvre; Philippe Burlet; Olivier Clermont; C Cruaud; Jean-Louis Guénet; Arnold Munnich; Judith Melki
cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn).
Genomics 1997;40(1):185-8.
1997: D Bonnet; Valérie Cormier-Daire; J Kachaner; I Szezepanski; P Souillard; Daniel Sidi; Arnold Munnich; Stanislas LYONNET
Microsatellite DNA markers detects 95% of chromosome 22q11 deletions.
American journal of medical genetics 1997;68(2):182-4.
1997: C Bidaud; Rémi Salomon; P Edery; G Van Camp; Anna Pelet; M Bonduelle; C Nihoul-Fékété; P J Willems; Arnold Munnich; Stanislas LYONNET
[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease].
Gastroentérologie clinique et biologique 1997;21(8-9):548-54.
1997: G Ershova; Josette Derré; S Chételin; Vanessa Nancy; R Berger; Josseline Kaplan; Arnold Munnich; Jean de Gunzburg
cDNA sequence, genomic organization and mapping of PDE6D, the human gene encoding the delta subunit of the cGMP phosphodiesterase of retinal rod cells to chromosome 2q36.
Cytogenetics and cell genetics 1997;79(1-2):139-41.
1997: Jean-Paul Bonnefont; Laure Thuillier; Nadine Gigarel; C Rochette; M L Briard; Arnold Munnich
Prenatal diagnosis of cystic fibrosis.
Pediatric pulmonology. Supplement 1997;16():63-4.
1997: Agnès Rötig; Jean-Paul Bonnefont; Arnold Munnich
[Mitochondrial diabetes].
Journées annuelles de diabétologie de l'Hôtel-Dieu 1997;():33-42.
1997: Arnold Munnich
[Respiratory chain and mitochondrial DNA].
Journées annuelles de diabétologie de l'Hôtel-Dieu 1997;():1-15.
1997: Jacky Bonaventure; F Rousseau; Laurence Legeai-Mallet; Catherine Benoist-Lasselin; Martine Le Merrer; Arnold Munnich
[Fibroblast growth factor receptors and hereditary abnormalities of bone growth].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1997;4(2 Suppl 2):112s-117s.
1997: V Raclin; P S Veber; L Bürglen; Arnold Munnich; Judith Melki
De novo deletions in spinal muscular atrophy: implications for genetic counselling.
Journal of medical genetics 1997;34(1):86-7.
1997: G Lévy; F Levi-Acobas; Stéphane Blanchard; S Gerber; D Larget-Piet; V Chenal; Xue Zhong Liu; VE Newton; Karen P Steel; Steve D M Brown; Arnold Munnich; J Kaplan; Christine Petit; Dominique Weil
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.
Human molecular genetics 1997;6(1):111-6.
1997: H Chaïb; J Kaplan; S Gerber; C Vincent; Hammadi Ayadi; R Slim; Arnold Munnich; Jean Weissenbach; Christine Petit
A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.
Human molecular genetics 1997;6(1):27-31.
1997: L Bürglen; T Seroz; P Miniou; Suzie Lefebvre; Philippe Burlet; Arnold Munnich; E V Pequignot; Jean-Marc Egly; Judith Melki
The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease.
American journal of human genetics 1997;60(1):72-9.
1996: Valérie Cormier-Daire; Pierre Rustin; Agnès Rötig; Dominique Chrétien; Martine Le Merrer; D Belli; A Le Goff; Philippe Hubert; C Ricour; Arnold Munnich
Craniofacial anomalies and malformations in respiratory chain deficiency.
American journal of medical genetics 1996;66(4):457-63.
1996: Michel Bahuau; W Flintoff; B Assouline; Stanislas LYONNET; Martine Le Merrer; Marguerite Prieur; M Guilloud-Bataille; N Feingold; Arnold Munnich; M Vidaud; Dominique Vidaud
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.
American journal of medical genetics 1996;66(3):347-55.
1996: AL Tellier; Stanislas LYONNET; Valérie Cormier-Daire; Pascale de Lonlay; Véronique Abadie; C Baumann; D Bonneau; P Labrune; Didier Lacombe; Martine Le Merrer; A Nivelon; N Philip; Marie Louise Briard; Arnold Munnich
Increased paternal age in CHARGE association.
Clinical genetics 1996;50(6):548-50.
1996: Isabelle Perrault; Jean-Michel Rozet; Patrick Calvas; Sylvie Gerber; A Camuzat; Hélène Dollfus; S Châtelin; Eric H Souied; I Ghazi; Corinne Leowski; M Bonnemaison; D Le Paslier; J Frézal; Jean-Louis Dufier; Steven J Pittler; Arnold Munnich; Josseline Kaplan
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
Nature genetics 1996;14(4):461-4.
1996: Rémi Salomon; Tania Attié; Anna Pelet; C Bidaud; Charis Eng; Jeanne Amiel; Sabine Sarnacki; Olivier Goulet; Claude Ricour; C Nihoul-Fékété; Arnold Munnich; Stanislas LYONNET
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.
Nature genetics 1996;14(3):345-7.
1996: Jacky Bonaventure; F Rousseau; Laurence Legeai-Mallet; Martine Le Merrer; Arnold Munnich; Pierre Maroteaux
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia.
Acta paediatrica (Oslo, Norway : 1992). Supplement 1996;417():33-8.
1996: Agnès Rötig; Jean-Paul Bonnefont; Arnold Munnich
Mitochondrial diabetes mellitus.
Diabetes & metabolism 1996;22(5):291-8.
1996: Jean-Michel Rozet; Sylvie Gerber; Isabelle Perrault; A Camuzat; Patrick Calvas; E Viegas-Pequignot; D Molina-Gomes; D Le Paslier; I Chumakov; Arnold Munnich; Josseline Kaplan
Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD).
Genomics 1996;36(3):554-6.
1996: F Rousseau; Jacky Bonaventure; Laurence Legeai-Mallet; H Schmidt; J Weissenbach; Pierre Maroteaux; Arnold Munnich; Martine Le Merrer
Clinical and genetic heterogeneity of hypochondroplasia.
Journal of medical genetics 1996;33(9):749-52.
1996: L Bürglen; J Amiel; L Viollet; Suzie Lefebvre; Philippe Burlet; Olivier Clermont; V Raclin; P Landrieu; Alain Verloes; Arnold Munnich; Judith Melki
Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.
The Journal of clinical investigation 1996;98(5):1130-2.
1996: Valérie Cormier-Daire; C Wolf; Arnold Munnich; Martine Le Merrer; A Nivelon; D Bonneau; H Journel; F Fellmann; F Chevy; C Roux
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes.
European journal of pediatrics 1996;155(8):656-9.
1996: H W Ma; Elizabeth Lajeunie; N de Parseval; Arnold Munnich; Dominique Renier; Martine Le Merrer
Possible genetic heterogeneity in the Saethre-Chotzen syndrome.
Human genetics 1996;98(2):228-32.
1996: Pierre Rustin; B Parfait; Dominique Chretien; Thomas Bourgeron; Fatima Djouadi; Jean Bastin; Agnès Rötig; Arnold Munnich
Fluxes of nicotinamide adenine dinucleotides through mitochondrial membranes in human cultured cells.
The Journal of biological chemistry 1996;271(25):14785-90.
1996: A Camuzat; Jean-Michel Rozet; Hélène Dollfus; Sylvie Gerber; Isabelle Perrault; J Weissenbach; Arnold Munnich; Josseline Kaplan
Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.
Human genetics 1996;97(6):798-801.
1996: Jacky Bonaventure; F Rousseau; Laurence Legeai-Mallet; Martine Le Merrer; Arnold Munnich; Pierre Maroteaux
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
American journal of medical genetics 1996;63(1):148-54.
1996: F Rousseau; Vincent El Ghouzzi; Anne-Lise Delezoide; Laurence Legeai-Mallet; Martine Le Merrer; Arnold Munnich; Jacky Bonaventure
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
Human molecular genetics 1996;5(4):509-12.
1996: Philippe Burlet; L Bürglen; Olivier Clermont; Suzie Lefebvre; L Viollet; Arnold Munnich; Judith Melki
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
Journal of medical genetics 1996;33(4):281-3.
1996: P Edery; Tania Attié; Jeanne Amiel; Anna Pelet; Charis Eng; R M Hofstra; H Martelli; C Bidaud; Arnold Munnich; Stanislas LYONNET
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
Nature genetics 1996;12(4):442-4.
1996: L Bürglen; Suzie Lefebvre; Olivier Clermont; Philippe Burlet; L Viollet; C Cruaud; Arnold Munnich; Judith Melki
Structure and organization of the human survival motor neurone (SMN) gene.
Genomics 1996;32(3):479-82.
1996: M A Birch-Machin; C Marsac; Gérard Ponsot; B Parfait; R W Taylor; Pierre Rustin; Arnold Munnich
Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain.
Biochemical and biophysical research communications 1996;220(1):57-62.
1996: Jeanne Amiel; Tania Attié; Dominique M. Jan; Anna Pelet; P Edery; C Bidaud; D Lacombe; P Tam; J Simeoni; E Flori; C Nihoul-Fékété; Arnold Munnich; Stanislas LYONNET
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.
Human molecular genetics 1996;5(3):355-7.
1996: Tania Attié; Rémi Salomon; Jeanne Amiel; P Edery; Anna Pelet; C Nihoul-Fékété; Arnold Munnich; Stanislas LYONNET
[Genetics of Hirschsprung disease].
Comptes rendus des séances de la Société de biologie et de ses filiales 1996;190(5-6):549-56.
1996: Tania Attié; Jeanne Amiel; Dominique M. Jan; P Edery; Anna Pelet; Rémi Salomon; Arnold Munnich; Stanislas LYONNET; C Nihoul-Fékété
[Genetics of Hirschsprung disease].
Annales de chirurgie 1996;50(7):538-41.
1996: B Ségues; P S Veber; Daniel Rabier; Patrick Calvas; Jean-Marie Saudubray; B Gilbert-Dussardier; Jean-Paul Bonnefont; Arnold Munnich
A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.
Human mutation 1996;8(4):373-4.
1996: F Poggi-Travert; D Martin; T Billette de Villemeur; Jean-Paul Bonnefont; A Vassault; Daniel Rabier; C Charpentier; Pierre Kamoun; Arnold Munnich; Jean-Marie Saudubray
Metabolic intermediates in lactic acidosis: compounds, samples and interpretation.
Journal of inherited metabolic disease 1996;19(4):478-88.
1996: Sylvie Gerber; D Larget-Piet; Jean-Michel Rozet; D Bonneau; M Mathieu; V Der Kaloustian; Arnold Munnich; Josseline Kaplan
Evidence for a fourth locus in Usher syndrome type I.
Journal of medical genetics 1996;33(1):77-9.
1996: B Gilbert-Dussardier; B Segues; Jean-Michel Rozet; Daniel Rabier; Patrick Calvas; L de Lumley; J P Bonnefond; Arnold Munnich
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
Human mutation 1996;8(1):74-6.
1996: T Billette de Villemeur; Pascale de Lonlay; F Poggi-Travert; D Martin; J M Launay; Arnold Munnich; Jean-Marie Saudubray
[Monoamine decarboxylase deficiency].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1996;3 Suppl 1():167s-168s.
1996: F Rousseau; Jacky Bonaventure; Laurence Legeai-Mallet; Anna Pelet; Jean-Michel Rozet; Pierre Maroteaux; Martine Le Merrer; Arnold Munnich
Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.
Hormone research 1996;45(1-2):108-10.
1996: Eric H Souied; Jean-Michel Rozet; Sylvie Gerber; Arnold Munnich; Josseline Kaplan
[Rapid demonstration of mutations previously identified in parents at risk of patients with autosomic dominant retinitis pigmentosa].
Journal français d'ophtalmologie 1996;19(4):265-70.
1995: Olivier Clermont; Philippe Burlet; Suzie Lefebvre; L Bürglen; Arnold Munnich; Judith Melki
SMN gene deletions in adult-onset spinal muscular atrophy.
Lancet 1995;346(8991-8992):1712-3.
1995: D Bonneau; Eric H Souied; Sylvie Gerber; Jean-Michel Rozet; E D'Haens; H Journel; G Plessis; J Weissenbach; Arnold Munnich; Josseline Kaplan
No evidence of genetic heterogeneity in dominant optic atrophy.
Journal of medical genetics 1995;32(12):951-3.
1995: Tania Attié; M Till; Anna Pelet; Jeanne Amiel; P Edery; L Boutrand; Arnold Munnich; Stanislas LYONNET
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.
Human molecular genetics 1995;4(12):2407-9.
1995: H W Ma; Elizabeth Lajeunie; Martine Le Merrer; N de Parseval; F Serville; J Weissenbach; Arnold Munnich; Dominique Renier
No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis.
Human genetics 1995;96(6):731-5.
1995: D Héron; Stanislas LYONNET; L Iserin; Arnold Munnich; J P Padovani
Sternal cleft: case report and review of a series of nine patients.
American journal of medical genetics 1995;59(2):154-6.
1995: E Bussaglia; Olivier Clermont; Eduardo F Tizzano; Suzie Lefebvre; L Bürglen; C Cruaud; J Andoni Urtizberea; Jaume Colomer; Arnold Munnich; Montserrat Baiget
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.
Nature genetics 1995;11(3):335-7.
1995: Thomas Bourgeron; Pierre Rustin; Dominique Chretien; M Birch-Machin; M Bourgeois; E Viegas-Péquignot; Arnold Munnich; Agnès Rötig
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.
Nature genetics 1995;11(2):144-9.
1995: Dominique Chretien; M Pourrier; Thomas Bourgeron; M Séné; Agnès Rötig; Arnold Munnich; Pierre Rustin
An improved spectrophotometric assay of pyruvate dehydrogenase in lactate dehydrogenase contaminated mitochondrial preparations from human skeletal muscle.
Clinica chimica acta; international journal of clinical chemistry 1995;240(2):129-36.
1995: Tania Attié; Anna Pelet; P Edery; Charis Eng; Lois M Mulligan; Jeanne Amiel; L Boutrand; C Beldjord; C Nihoul-Fékété; Arnold Munnich
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
Human molecular genetics 1995;4(8):1381-6.
1995: Agnès Rötig; Thomas Bourgeron; Dominique Chretien; Pierre Rustin; Arnold Munnich
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.
Human molecular genetics 1995;4(8):1327-30.
1995: D Héron; T Billette de Villemeur; Arnold Munnich; Stanislas LYONNET
Filippi syndrome: a new case with skeletal abnormalities.
Journal of medical genetics 1995;32(8):659-61.
1995: L Bürglen; R Spiegel; Jaakko Ignatius; J M Cobben; P Landrieu; Suzie Lefebvre; Arnold Munnich; Judith Melki
SMN gene deletion in variant of infantile spinal muscular atrophy.
Lancet 1995;346(8970):316-7.
1995: L Bürglen; J Frézal; Arnold Munnich; Judith Melki
[Identification of the gene determining spinal muscular atrophy: perspectives].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1995;2(6):505-7.
1995: V Cormier-Daire; Stanislas LYONNET; A Lehnert; D Martin; R Salomon; N Patey; M Broyer; C Ricour; Arnold Munnich
Craniosynostosis and kidney malformation in a case of Hennekam syndrome.
American journal of medical genetics 1995;57(1):66-8.
1995: F Rousseau; P Saugier; Martine Le Merrer; Arnold Munnich; Anne-Lise Delezoide; Pierre Maroteaux; Jacky Bonaventure; F Narcy; M Sanak
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
Nature genetics 1995;10(1):11-2.
1995: Sylvie Gerber; Jean-Michel Rozet; D Bonneau; Eric H Souied; J Weissenbach; J Frezal; Arnold Munnich; Josseline Kaplan
Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease.
Human genetics 1995;95(4):382-4.
1995: Agnès Rötig; F Goutières; P Niaudet; Pierre Rustin; Dominique Chretien; G Guest; Jacqueline Mikol; M C Gubler; Arnold Munnich
Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis.
The Journal of pediatrics 1995;126(4):597-601.
1995: Tania Attié; M Till; Anna Pelet; P Edery; J P Bonnet; Arnold Munnich; Stanislas LYONNET
Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.
Journal of medical genetics 1995;32(4):312-3.
1995: V Cormier-Daire; L Iserin; D Théophile; Daniel Sidi; C Vervel; J P Padovani; M Vekemans; Arnold Munnich; Stanislas LYONNET
Upper limb malformations in DiGeorge syndrome.
American journal of medical genetics 1995;56(1):39-41.
1995: Eric H Souied; P Amalric; M L Chauvet; C Chevallier; P Le Hoang; Arnold Munnich; Josseline Kaplan
Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance.
Ophthalmic genetics 1995;16(1):11-5.
1995: Sylvie Gerber; Jean-Michel Rozet; D Bonneau; Eric H Souied; A Camuzat; Jean-Louis Dufier; P Amalric; J Weissenbach; Arnold Munnich; Josseline Kaplan
A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13.
American journal of human genetics 1995;56(2):396-9.
1995: Elizabeth Lajeunie; H W Ma; Jacky Bonaventure; Arnold Munnich; Martine Le Merrer; Dominique Renier
FGFR2 mutations in Pfeiffer syndrome.
Nature genetics 1995;9(2):108.
1995: P Saugier-Veber; Arnold Munnich; Stanislas LYONNET; Annick Toutain; Claude Moraine; C Piussan; M Mathieu; R J Gibbons
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?
American journal of medical genetics 1995;55(3):300-1.
1995: Pierre Kamoun; A H Fensom; Y S Shin; E Bakker; J P Colombo; Arnold Munnich; S Bird; S Canini; J G Huijmans; Bernadette Chadefaux-Vekemans
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.
American journal of medical genetics 1995;55(2):247-50.
1995: Agnès Rötig; Thomas Bourgeron; Pierre Rustin; Arnold Munnich
Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome.
Muscle & nerve. Supplement 1995;3():S159-64.
1994: Anna Pelet; T Attie; O Goulet; Charis Eng; B A Ponder; Arnold Munnich; Stanislas LYONNET
De-novo mutations of the RET proto-oncogene in Hirschsprung's disease.
Lancet 1994;344(8939-8940):1769-70.
1994: Philippe Labrune; Anne Myara; michelle hadchouel; F Ronchi; O Bernard; François Trivin; Namita Roy-Chowdhury; Jayanta Roy-Chowdhury; Arnold Munnich; Marie-Hélène Odièvre
Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.
Human genetics 1994;94(6):693-7.
1994: P Edery; Tania Attié; Lois M Mulligan; Anna Pelet; Charis Eng; B A Ponder; Arnold Munnich; Stanislas LYONNET
A novel polymorphism in the coding sequence of the human RET proto-oncogene.
Human genetics 1994;94(5):579-80.
1994: F Rousseau; Jacky Bonaventure; Laurence Legeai-Mallet; Anna Pelet; Jean-Michel Rozet; Pierre Maroteaux; Martine Le Merrer; Arnold Munnich
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
Nature 1994;371(6494):252-4.
1994: P Edery; Y Manach; Martine Le Merrer; M Till; A Vignal; Stanislas LYONNET; Arnold Munnich
Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome.
American journal of medical genetics 1994;52(2):174-7.
1994: T Attie; Anna Pelet; P Sarda; Charis Eng; P Edery; Lois M Mulligan; B A Ponder; Arnold Munnich; Stanislas LYONNET
A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease.
Human molecular genetics 1994;3(8):1439-40.
1994: Eric H Souied; Sylvie Gerber; Jean-Michel Rozet; D Bonneau; Jean-Louis Dufier; I Ghazi; N Philip; Gisele SOUBRANE; Gabriel Coscas; Arnold Munnich
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
Human molecular genetics 1994;3(8):1433-4.
1994: Dominique Chretien; Pierre Rustin; Thomas Bourgeron; Agnès Rötig; Jean-Marie Saudubray; Arnold Munnich
Reference charts for respiratory chain activities in human tissues.
Clinica chimica acta; international journal of clinical chemistry 1994;228(1):53-70.
1994: Pierre Rustin; Dominique Chretien; Thomas Bourgeron; B Gérard; Agnès Rötig; Jean-Marie Saudubray; Arnold Munnich
Biochemical and molecular investigations in respiratory chain deficiencies.
Clinica chimica acta; international journal of clinical chemistry 1994;228(1):35-51.
1994: Jean-Michel Rozet; Sylvie Gerber; D Bonneau; Arnold Munnich; Josseline Kaplan
DsaI polymorphism at the human cone transducin alpha-subunit (GNAT2) detected by PCR.
Human molecular genetics 1994;3(6):1030.
1994: B Gilbert-Dussardier; Daniel Rabier; S Strautnieks; B Segues; Jean-Paul Bonnefont; Arnold Munnich
A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.
Human molecular genetics 1994;3(5):831-2.
1994: Martine Le Merrer; Laurence Legeai-Mallet; P M Jeannin; B Horsthemke; A Schinzel; H Plauchu; A Toutain; F Achard; Arnold Munnich; Pierre Maroteaux
A gene for hereditary multiple exostoses maps to chromosome 19p.
Human molecular genetics 1994;3(5):717-22.
1994: P Bénit; F Rey; D Melle; Arnold Munnich; J Rey
Novel frame shift deletions of the phenylalanine hydroxylase gene in phenylketonuria.
Human molecular genetics 1994;3(4):675-6.
1994: Patrick Niaudet; Laurence Heidet; Arnold Munnich; J Schmitz; F Bouissou; Marie-Claire Gubler; Agnès Rötig
Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome.
Pediatric nephrology (Berlin, Germany) 1994;8(2):164-8.
1994: Stanislas LYONNET; P Edery; Lois M Mulligan; Anna Pelet; E Dow; L Abel; S Holder; C Nihoul-Fékéte; B A Ponder; Arnold Munnich
[Mutations of RET proto-oncogene in Hirschsprung disease].
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1994;317(4):358-62.
1994: P Edery; B Gérard; Dominique Chretien; Agnès Rötig; R Cerrone; D Rabier; C Rambaud; M Fabre; Jean-Marie Saudubray; Arnold Munnich
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure.
European journal of pediatrics 1994;153(3):190-4.
1994: Martine Le Merrer; F Rousseau; Laurence Legeai-Mallet; J C Landais; Anna Pelet; Jacky Bonaventure; M Sanak; J Weissenbach; C Stoll; Arnold Munnich
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.
Nature genetics 1994;6(3):318-21.
1994: P Saugier-Veber; Arnold Munnich; D Bonneau; Jean-Michel Rozet; Martine Le Merrer; R Gil; O Boespflug-Tanguy
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
Nature genetics 1994;6(3):257-62.
1994: Pierre Rustin; J Lebidois; Dominique Chretien; Thomas Bourgeron; J F Piechaud; Agnès Rötig; Arnold Munnich; Daniel Sidi
Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies.
The Journal of pediatrics 1994;124(2):224-8.
1994: P Edery; Stanislas LYONNET; Lois M Mulligan; Anna Pelet; E Dow; L Abel; S Holder; C Nihoul-Fékété; B A Ponder; Arnold Munnich
Mutations of the RET proto-oncogene in Hirschsprung's disease.
Nature 1994;367(6461):378-80.
1994: P Bénit; F Rey; D Melle; Arnold Munnich; J Rey
Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.
Human mutation 1994;4(3):229-31.
1994: Tania Attié; P Edery; Stanislas LYONNET; C Nihoul-Fékété; Arnold Munnich
[Identification of mutation of RET proto-oncogene in Hirschsprung disease].
Comptes rendus des séances de la Société de biologie et de ses filiales 1994;188(5-6):499-504.
1993: D Larget-Piet; Jean-Michel Rozet; Sylvie Gerber; Hélène Dollfus; Arnold Munnich; Josseline Kaplan
Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus.
Human molecular genetics 1993;2(12):2201.
1993: Jamilé Hazan; C Lamy; Judith Melki; Arnold Munnich; J de Recondo; Jean Weissenbach
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.
Nature genetics 1993;5(2):163-7.
1993: Thomas Bourgeron; Dominique Chretien; Agnès Rötig; Arnold Munnich; Pierre Rustin
Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures.
The Journal of biological chemistry 1993;268(26):19369-76.
1993: Thomas Bourgeron; Dominique Chretien; P Amati; Agnès Rötig; Arnold Munnich; Pierre Rustin
Expression of respiratory chain deficiencies in human cultured cells.
Neuromuscular disorders : NMD 1993;3(5-6):605-8.
1993: Hélène Dollfus; M G Mattei; Jean-Michel Rozet; O Delrieu; Arnold Munnich; Josseline Kaplan
Physical and genetic localization of the gamma subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25).
Genomics 1993;17(2):526-8.
1993: Philippe Burlet; S Abdelhak; F Pascal; Olivier Clermont; B Paul; Arnold Munnich; Judith Melki
Trinucleotide repeat polymorphism at the D5S556 locus.
Human molecular genetics 1993;2(8):1328.
1993: Pierre Rustin; Dominique Chretien; Thomas Bourgeron; J LeBidois; Daniel Sidi; Agnès Rötig; Arnold Munnich
Investigation of respiratory chain activity in human heart.
Biochemical medicine and metabolic biology 1993;50(1):120-6.
1993: Hélène Dollfus; Jean-Michel Rozet; M A Musarella; Josseline Kaplan; Arnold Munnich
Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p.
Human molecular genetics 1993;2(7):1081.
1993: W F Flintoff; Michel Bahuau; Stanislas LYONNET; S Gilgenkrantz; D Lacombe; F Marçon; J Levilliers; Jean Kachaner; Arnold Munnich; Martine Le Merrer
No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families.
American journal of medical genetics 1993;46(6):700-5.
1993: P Saugier-Veber; Véronique Abadie; Anne Moncla; M Mathieu; C Piussan; C Turleau; J F Mattei; Arnold Munnich; Stanislas LYONNET
The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).
American journal of human genetics 1993;52(6):1040-5.
1993: F Serville; P Benit; P Saugier; M Vibert; G Royer; Anna Pelet; M Chery; Arnold Munnich; Stanislas LYONNET
Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence using closely linked DNA markers.
Prenatal diagnosis 1993;13(6):435-9.
1993: Agnès Rötig; V Cormier; P Chatelain; R Francois; Jean-Marie Saudubray; Pierre Rustin; Arnold Munnich
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).
The Journal of clinical investigation 1993;91(3):1095-8.
1993: B Gérard; Thomas Bourgeron; Dominique Chretien; Agnès Rötig; Arnold Munnich; Pierre Rustin
Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts.
European journal of pediatrics 1993;152(3):270.
1993: Véronique Abadie; J Jaruzelska; Stanislas LYONNET; P Millasseau; M Berthelon; F Rey; Arnold Munnich; J Rey
Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.
Human molecular genetics 1993;2(1):31-4.
1993: Pierre Rustin; J Lebidois; Dominique Chretien; Thomas Bourgeron; J F Piechaud; Agnès Rötig; Daniel Sidi; Arnold Munnich
The investigation of respiratory chain disorders in heart using endomyocardial biopsies.
Journal of inherited metabolic disease 1993;16(3):541-4.
1993: Agnès Rötig; V Cormier; P Chatelain; R Francois; Jean-Marie Saudubray; Pierre Rustin; Arnold Munnich
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome).
Journal of inherited metabolic disease 1993;16(3):527-30.
1992: Martine Le Merrer; K Ben Othmane; V Stanescu; Stanislas LYONNET; L Van Maldergem; G Royer; Arnold Munnich; Pierre Maroteaux
The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).
Journal of medical genetics 1992;29(10):713-5.
1992: F Rey; Véronique Abadie; Stanislas LYONNET; M Berthelon; C Caillaud; D Melle; P Labrune; Jean-Marie Saudubray; Arnold Munnich; J Rey
[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].
Archives françaises de pédiatrie 1992;49(8):705-10.
1992: Jean-Paul Bonnefont; Dominique Chretien; Pierre Rustin; B Robinson; A Vassault; J Aupetit; C Charpentier; Daniel Rabier; J M Saudubray; Arnold Munnich
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.
The Journal of pediatrics 1992;121(2):255-8.
1992: Thomas Bourgeron; Dominique Chretien; Agnès Rötig; Arnold Munnich; Pierre Rustin
Isolation and characterization of mitochondria from human B lymphoblastoid cell lines.
Biochemical and biophysical research communications 1992;186(1):16-23.
1992: F Serville; Stanislas LYONNET; Anna Pelet; M Reynaud; C Louail; Arnold Munnich; M Le Merrer
X-linked hydrocephalus: clinical heterogeneity at a single gene locus.
European journal of pediatrics 1992;151(7):515-8.
1992: D Feldmann; Jean-Michel Rozet; Anna Pelet; D Hentzen; P Briand; P Hubert; C Largilliere; Daniel Rabier; J P Farriaux; Arnold Munnich
Site specific screening for point mutations in ornithine transcarbamylase deficiency.
Journal of medical genetics 1992;29(7):471-5.
1992: Thomas Bourgeron; Dominique Chrétien; Agnès Rötig; Arnold Munnich; Pierre Rustin
Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous.
Prenatal diagnosis 1992;12(6):548-9.
1992: Daniel Sidi; Jérôme Le Bidois; JF Piéchaud; E Da Cruz; C Marchal; V Gournay; Jean Kachaner; Pierre Rustin; Dominique Chrétien; Arnold Munnich
[Enzymatic activities of the mitochondrial respiratory chain in child cardiomyopathies. 34 cases prospectively studied by endomyocardial biopsy].
Archives des maladies du coeur et des vaisseaux 1992;85(5):541-6.
1992: Agnès Rötig; J L Bessis; N Romero; V Cormier; Jean-Marie Saudubray; P Narcy; G Lenoir; Pierre Rustin; Arnold Munnich
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.
American journal of human genetics 1992;50(2):364-70.
1992: A Hentati; C Lamy; Judith Melki; M Zuber; Arnold Munnich; J de Recondo
Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease.
Genomics 1992;12(1):155-7.
1992: Stanislas LYONNET; G Schwartz; G Gatin; Y de Prost; Arnold Munnich; Martine Le Merrer
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?
Journal of medical genetics 1992;29(1):68-9.
1992: Arnold Munnich; Pierre Rustin; Agnès Rötig; Dominique Chretien; Jean-Paul Bonnefont; C Nuttin; V Cormier; A Vassault; P Parvy; J Bardet
Clinical aspects of mitochondrial disorders.
Journal of inherited metabolic disease 1992;15(4):448-55.
1992: J M Saudubray; G Mitchell; Jean-Paul Bonnefont; G Schwartz; C Nuttin; Arnold Munnich; Michèle Brivet; A Vassault; France Demaugre; Daniel Rabier
Approach to the patient with a fatty acid oxidation disorder.
Progress in clinical and biological research 1992;375():271-88.
1991: D Hentzen; Anna Pelet; D Feldman; Daniel Rabier; J Berthelot; Arnold Munnich
Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.
Human genetics 1991;88(2):153-6.
1991: P Labrune; D Melle; F Rey; M Berthelon; C Caillaud; J Rey; Arnold Munnich; Stanislas LYONNET
Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.
American journal of human genetics 1991;48(6):1115-20.
1991: Agnès Rötig; V Cormier; F Koll; C E Mize; Jean-Marie Saudubray; A Veerman; H A Pearson; Arnold Munnich
Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.
Genomics 1991;10(2):502-4.
1991: Josseline Kaplan; Anna Pelet; H Hentati; M Jeanpierre; Marie Louise Briard; H Journel; Arnold Munnich; Jean-Louis Dufier
Contribution to carrier detection and genetic counselling in X linked retinoschisis.
Journal of medical genetics 1991;28(6):383-8.
1991: C Caillaud; Stanislas LYONNET; F Rey; D Melle; T Frebourg; M Berthelon; Laura Vilarinho; R Vaz Osorio; J Rey; Arnold Munnich
A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.
The Journal of biological chemistry 1991;266(15):9351-4.
1991: P Sheth; S Abdelhak; M F Bachelot; Philippe Burlet; M Masset; D Hillaire; F Clerget-Darpoux; J Frézal; G M Lathrop; Arnold Munnich
Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5.
American journal of human genetics 1991;48(4):764-8.
1991: V Cormier; A Rotig; M Tardieu; M Colonna; Jean-Marie Saudubray; Arnold Munnich
Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.
American journal of human genetics 1991;48(4):643-8.
1991: M G Mattei; Judith Melki; M F Bachelot; S Abdelhak; Philippe Burlet; J Frézal; Arnold Munnich
In situ hybridization of two markers closely flanking the spinal muscular atrophy gene to 5q12----q13.3.
Cytogenetics and cell genetics 1991;57(2-3):112-3.
1991: D Melle; P Verelst; F Rey; M Berthelon; B François; Arnold Munnich; Stanislas LYONNET
Two distinct mutations at a single BamHI site in phenylketonuria.
Journal of medical genetics 1991;28(1):38-40.
1990: Jean-Paul Bonnefont; N B Specola; A Vassault; A Lombes; H Ogier; J B de Klerk; Arnold Munnich; M Coude; M Paturneau-Jouas; Jean-Marie Saudubray
The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states.
European journal of pediatrics 1990;150(2):80-5.
1990: S Abdelhak; Judith Melki; M F Bachelot; Philippe Burlet; P Sheth; J Frézal; Arnold Munnich
A PstI polymorphism at the D5S39 locus.
Nucleic acids research 1990;18(18):5580.
1990: Judith Melki; P Sheth; S Abdelhak; Philippe Burlet; M F Bachelot; M G Lathrop; J Frezal; Arnold Munnich
Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators.
Lancet 1990;336(8710):271-3.
1990: A Michel-Awad; Josseline Kaplan; Marie Louise Briard; C Turleau; J de Grouchy; Arnold Munnich; Jean-Louis Dufier; J Frezal
[Prenatal diagnosis of various hereditary blinding diseases].
Ophtalmologie : organe de la Société française d'ophtalmologie 1990;4(3):237-9.
1990: Anna Pelet; A Rotig; Catherine Bonaïti-Pellié; Daniel Rabier; V Cormier; E Toumas; D Hentzen; Jean-Marie Saudubray; Arnold Munnich
Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.
Human genetics 1990;84(2):167-71.
1990: Catherine Bonaïti-Pellié; Anna Pelet; H Ogier; J R Nelson; C Largillière; J Berthelot; J M Saudubray; Arnold Munnich
A probable sex difference in mutation rates in ornithine transcarbamylase deficiency.
Human genetics 1990;84(2):163-6.
1990: Josseline Kaplan; G Guasconi; Jean-Louis Dufier; A Michel-Awad; A David; Arnold Munnich; J Frezal
Exclusion of linkage between D3S47 (C17) and ADRPII gene in two large families of moderate autosomal dominant retinitis pigmentosa: evidence for genetic heterogeneity.
Annales de génétique 1990;33(3):152-4.
1990: J Kaplan; G Guasconi; D Bonneau; J Melki; M L Briard; Arnold Munnich; J L Dufier; J Frézal
Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity.
Annales de génétique 1990;33(2):105-8.
1989: Jean-Marie Saudubray; S Lyonnet; A Lombes; F Hervé; Jean-Paul Bonnefont; Arnold Munnich; H Ogier
[Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset].
Journal de génétique humaine 1989;37(4-5):299-310.
1989: Véronique Abadie; Stanislas LYONNET; N Maurin; M Berthelon; C Caillaud; F Giraud; J F Mattei; J Rey; F Rey; Arnold Munnich
CpG dinucleotides are mutation hot spots in phenylketonuria.
Genomics 1989;5(4):936-9.
1989: M T García Silva; J P Bonnefont; A Rotig; N Romero; A Vassault; M Colonna; M Coude; Daniel Rabier; Arnold Munnich; M Fardeau
[Respiratory chain diseases in infancy. Clinical presentation and diagnosis].
Anales españoles de pediatría 1989;31(5):421-30.
1989: Stanislas LYONNET; C Caillaud; F Rey; M Berthelon; J Frézal; J Rey; Arnold Munnich
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.
American journal of human genetics 1989;44(4):511-7.
1989: Jean-Marie Saudubray; H Ogier; Jean-Paul Bonnefont; Arnold Munnich; A Lombes; F Hervé; G Mitchel; B P Thé; N Specola; P Parvy
Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey.
Journal of inherited metabolic disease 1989;12 Suppl 1():25-41.
1988: F Rey; M Berthelon; C Caillaud; Stanislas LYONNET; Véronique Abadie; F Blandin-Savoja; J Feingold; Jean-Marie Saudubray; J Frézal; Arnold Munnich
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.
American journal of human genetics 1988;43(6):914-21.
1988: Stanislas LYONNET; C Caillaud; F Rey; M Berthelon; J Frezal; J Rey; Arnold Munnich
Guthrie cards for detection of point mutations in phenylketonuria.
Lancet 1988;2(8609):507.
1988: S Lyonnet; C Coupé; J Girard; Axel Kahn; Arnold Munnich
In vivo regulation of glycolytic and gluconeogenic enzyme gene expression in newborn rat liver.
The Journal of clinical investigation 1988;81(6):1682-9.
1988: Anna Pelet; E Toumas; D Rabier; J Kaplan; P Kamoun; J Frezal; J M Saudubray; Arnold Munnich
[Genetic counseling in ornithine carbamoyltransferase deficiency].
Annales de biologie clinique 1988;46(7):455-9.
1987: Arnold Munnich; S Lyonnet; D Chauvet; E Van Schaftingen; Axel Kahn
Differential effects of glucose and fructose on liver L-type pyruvate kinase gene expression in vivo.
The Journal of biological chemistry 1987;262(35):17065-71.
1987: A Lombes; H Ogier; Jean-Paul Bonnefont; Arnold Munnich; Jean-Marie Saudubray
[Research methods in metabolic myopathies in children].
Annales de médecine interne 1987;138(6):441-3.