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Arnold Munnich

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Huber Céline; Oulès Bénédicte; Bertoli Marta; Chami Mounia; Fradin Mélanie; Alanay Yasemin; Al-Gazali Lihadh I; Ausems Margreet G E M; Bitoun Pierre; Cavalcanti Denise P; Krebs Alexander; Le Merrer Martine; Mortier Geert; Shafeghati Yousef; Superti-Furga Andrea; Robertson Stephen P; Le Goff Carine; Muda Andrea Onetti; Paterlini-Bréchot Patrizia; Munnich Arnold; Cormier-Daire Valérie
Identification of CANT1 Mutations in Desbuquois Dysplasia.
Beneteau Claire; Cavé Hélène; Moncla Anne; Dorison Nathalie; Munnich Arnold; Verloes Alain; Leheup Bruno
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
de Pontual Loïc; Zaghloul Norann A; Thomas Sophie; Davis Erica E; McGaughey David M; Dollfus Hélène; Baumann Clarisse; Bessling Seneca L; Babarit Candice; Pelet Anna; Gascue Cecilia; Beales Philip; Munnich Arnold; Lyonnet Stanislas; Etchevers Heather; Attie-Bitach Tania; Badano Jose L; McCallion Andrew S; Katsanis Nicholas; Amiel Jeanne
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

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All Publications

2009: Huber Céline; Oulès Bénédicte; Bertoli Marta; Chami Mounia; Fradin Mélanie; Alanay Yasemin; Al-Gazali Lihadh I; Ausems Margreet G E M; Bitoun Pierre; Cavalcanti Denise P; Krebs Alexander; Le Merrer Martine; Mortier Geert; Shafeghati Yousef; Superti-Furga Andrea; Robertson Stephen P; Le Goff Carine; Muda Andrea Onetti; Paterlini-Bréchot Patrizia; Munnich Arnold; Cormier-Daire Valérie
Identification of CANT1 Mutations in Desbuquois Dysplasia.
American journal of human genetics 2009;85(5):706-10.
2009: Beneteau Claire; Cavé Hélène; Moncla Anne; Dorison Nathalie; Munnich Arnold; Verloes Alain; Leheup Bruno
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: de Pontual Loïc; Zaghloul Norann A; Thomas Sophie; Davis Erica E; McGaughey David M; Dollfus Hélène; Baumann Clarisse; Bessling Seneca L; Babarit Candice; Pelet Anna; Gascue Cecilia; Beales Philip; Munnich Arnold; Lyonnet Stanislas; Etchevers Heather; Attie-Bitach Tania; Badano Jose L; McCallion Andrew S; Katsanis Nicholas; Amiel Jeanne
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: Boissel Sarah; Reish Orit; Proulx Karine; Kawagoe-Takaki Hiroko; Sedgwick Barbara; Yeo Giles S H; Meyre David; Golzio Christelle; Molinari Florence; Kadhom Noman; Etchevers Heather C; Saudek Vladimir; Farooqi I Sadaf; Froguel Philippe; Lindahl Tomas; O'Rahilly Stephen; Munnich Arnold; Colleaux Laurence
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: Brahimi N; Jambou M; Sarzi E; Serre V; Boddaert N; Romano S; de Lonlay P; Slama A; Munnich A; Rötig A; Bonnefont J P; Lebre A S
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Molecular genetics and metabolism 2009;97(3):221-6.
2009: Leshinsky-Silver E; Lebre Anne-Sophie; Minai Limor; Saada Ann; Steffann Julie; Cohen Sarit; Rötig Agnes; Munnich Arnold; Lev Dorit; Lerman-Sagie Tally
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.
Molecular genetics and metabolism 2009;97(3):185-9.
2009: de Keyzer Yves; Valayannopoulos Vassili; Benoist Jean-François; Batteux Frédéric; Lacaille Florence; Hubert Laurence; Chrétien Dominique; Chadefeaux-Vekemans Bernadette; Niaudet Patrick; Touati Guy; Munnich Arnold; de Lonlay Pascale
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: Saadi Abdelkrim; Borck Guntram; Boddaert Nathalie; Chekkour Mohamed Chahine; Imessaoudene Belaïd; Munnich Arnold; Colleaux Laurence; Chaouch Malika
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: Abifadel Marianne; Rabès Jean-Pierre; Jambart Sélim; Halaby Georges; Gannagé-Yared Marie-Hélène; Sarkis Antoine; Beaino Ghada; Varret Mathilde; Salem Nabiha; Corbani Sandra; Aydénian Hermine; Junien Claudine; Munnich Arnold; Boileau Catherine
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: Pannier Stéphanie; Martinovic Jelena; Heuertz Solange; Delezoide Anne-Lise; Munnich Arnold; Schibler Laurent; Serre Valérie; Legeai-Mallet Laurence
Thanatophoric dysplasia caused by double missense FGFR3 mutations.
American journal of medical genetics. Part A 2009;149A(6):1296-301.
2009: Dagoneau Nathalie; Goulet Marie; Geneviève David; Sznajer Yves; Martinovic Jelena; Smithson Sarah; Huber Céline; Baujat Geneviève; Flori Elisabeth; Tecco Laura; Cavalcanti Denise; Delezoide Anne-Lise; Serre Valérie; Le Merrer Martine; Munnich Arnold; Cormier-Daire Valérie
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
American journal of human genetics 2009;84(5):706-11.
2009: Tomé Stéphanie; Holt Ian; Edelmann Winfried; Morris Glenn E; Munnich Arnold; Pearson Christopher E; Gourdon Geneviève
MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice.
PLoS genetics 2009;5(5):e1000482.
2009: Monnot Sophie; Serre Valérie; Chadefaux-Vekemans Bernadette; Aupetit Joelle; Romano Stéphane; De Lonlay Pascale; Rival Jean-Marie; Munnich Arnold; Steffann Julie; Bonnefont Jean-Paul
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
Human mutation 2009;30(5):734-40.
2009: Hanein Sylvain; Perrault Isabelle; Roche Olivier; Gerber Sylvie; Khadom Noman; Rio Marlene; Boddaert Nathalie; Jean-Pierre Marc; Brahimi Nora; Serre Valérie; Chretien Dominique; Delphin Nathalie; Fares-Taie Lucas; Lachheb Sahran; Rotig Agnès; Meire Françoise; Munnich Arnold; Dufier Jean-Louis; Kaplan Josseline; Rozet Jean-Michel
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
American journal of human genetics 2009;84(4):493-8.
2009: Valayannopoulos V; Hubert L; Benoist J F; Romano S; Arnoux J B; Chrétien D; Kaplan J; Fakhouri F; Rabier D; Rötig A; Lebre A S; Munnich A; de Keyzer Y; de Lonlay P
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: de Pontual Loïc; Mathieu Yves; Golzio Christelle; Rio Marlène; Malan Valérie; Boddaert Nathalie; Soufflet Christine; Picard Capucine; Durandy Anne; Dobbie Angus; Heron Delphine; Isidor Bertrand; Motte Jacques; Newburry-Ecob Ruth; Pasquier Laurent; Tardieu Marc; Viot Géraldine; Jaubert Francis; Munnich Arnold; Colleaux Laurence; Vekemans Michel; Etchevers Heather; Lyonnet Stanislas; Amiel Jeanne
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
Human mutation 2009;30(4):669-76.
2009: Abifadel Marianne; Rabès Jean-Pierre; Devillers Martine; Munnich Arnold; Erlich Danièle; Junien Claudine; Varret Mathilde; Boileau Catherine
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: Pannier Stéphanie; Couloigner Vincent; Messaddeq Nadia; Elmaleh-Bergès Monique; Munnich Arnold; Romand Raymond; Legeai-Mallet Laurence
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: Trochet Delphine; Mathieu Yves; Pontual Loïc de; Savarirayan Ravi; Munnich Arnold; Brunet Jean-François; Lyonnet Stanislas; Goridis Christo; Amiel Jeanne
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: Munnich Arnold; de Lonlay Pascale; Rötig Agnès; Rustin Pierre
[Mitochondrial disorders]
Bulletin de l'Académie nationale de médecine 2009;193(1):19-41; discussion 41-3.
2009: Schibler Laurent; Gibbs Linda; Benoist-Lasselin Catherine; Decraene Charles; Martinovic Jelena; Loget Philippe; Delezoide Anne-Lise; Gonzales Marie; Munnich Arnold; Jais Jean-Philippe; Legeai-Mallet Laurence
New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling.
PloS one 2009;4(10):e7633.
2009: Zerbib Jennyfer; Seddon Johanna M; Richard Florence; Reynolds Robyn; Leveziel Nicolas; Benlian Pascale; Borel Patrick; Feingold Josué; Munnich Arnold; Soubrane Gisèle; Kaplan Josseline; Rozet Jean-Michel; Souied Eric H
rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration.
PloS one 2009;4(10):e7341.
2009: Boddaert Nathalie; Zilbovicius Mônica; Philipe Anne; Robel Laurence; Bourgeois Marie; Barthélemy Catherine; Seidenwurm David; Meresse Isabelle; Laurier Laurence; Desguerre Isabelle; Bahi-Buisson Nadia; Brunelle Francis; Munnich Arnold; Samson Yves; Mouren Marie-Christine; Chabane Nadia
MRI findings in 77 children with non-syndromic autistic disorder.
PloS one 2009;4(2):e4415.
2008: Clément-Ziza Mathieu; Munnich Arnold; Lyonnet Stanislas; Jaubert Francis; Besmond Claude
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: Kakhlon Or; Manning Hila; Breuer William; Melamed-Book Naomi; Lu Chunye; Cortopassi Gino; Munnich Arnold; Cabantchik Z Ioav
Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation.
Blood 2008;112(13):5219-27.
2008: De Pontual Loic; Trochet Delphine; Caillat-Zucman Sophie; Abou Shenab Othman A; Bougneres Pierre; Crow Yanick; Cunningham Steve; Esteva Blandine; Heberle Lada Cindro; Leger Juliane; Pinto Graziella; Polak Michel; Shafik Magdy Helmy; Straus Christian; Trang Ha; Munnich Arnold; Lyonnet Stanislas; Desguerre Isabelle; Amiel Jeanne
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.
Pediatric research 2008;64(6):689-94.
2008: Gilgenkrantz Simone; Munnich Arnold; Briard Marie-Louise; Le Merrer Martine; Feingold Josué; Mattei Jean-François
[Jean Frézal, and the emergence of medical genetics]
Médecine sciences : M/S 2008;24(11):991-6.
2008: Thomas Sophie; Thomas Marie; Wincker Patrick; Babarit Candice; Xu Puting; Speer Marcy C; Munnich Arnold; Lyonnet Stanislas; Vekemans Michel; Etchevers Heather C
Human neural crest cells display molecular and phenotypic hallmarks of stem cells.
Human molecular genetics 2008;17(21):3411-25.
2008: Munnich Arnold
Is genetics inhumane?
Journal of medical genetics 2008;45(10):632-4.
2008: Munnich Arnold
Casting an eye on the Krebs cycle.
Nature genetics 2008;40(10):1148-9.
2008: Panelli Damiano; Petruzzella Vittoria; Vitale Rita; De Rasmo Domenico; Munnich Arnold; Rötig Agnès; Papa Sergio
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: Le Goff Carine; Morice-Picard Fanny; Dagoneau Nathalie; Wang Lauren W; Perrot Claire; Crow Yanick J; Bauer Florence; Flori Elisabeth; Prost-Squarcioni Catherine; Krakow Deborah; Ge Gaoxiang; Greenspan Daniel S; Bonnet Damien; Le Merrer Martine; Munnich Arnold; Apte Suneel S; Cormier-Daire Valérie
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: Philippe Anne; Boddaert Nathalie; Vaivre-Douret Laurence; Robel Laurence; Danon-Boileau Laurent; Malan Valérie; de Blois Marie-Christine; Heron Delphine; Colleaux Laurence; Golse Bernard; Zilbovicius Monica; Munnich Arnold
Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood.
Pediatrics 2008;122(2):e376-82.
2008: Kamoun-Goldrat Agnès; Martinovic Jelena; Saada Julien; Sonigo-Cohen Pascale; Razavi Ferechte; Munnich Arnold; Le Merrer Martine
Prenatal cortical hyperostosis with COL1A1 gene mutation.
American journal of medical genetics. Part A 2008;146A(14):1820-4.
2008: Kamoun-Goldrat Agnès; Pannier Stéphanie; Huber Céline; Finidori Georges; Munnich Arnold; Cormier-Daire Valérie; Le Merrer Martine
A new osteogenesis imperfecta with improvement over time maps to 11q.
American journal of medical genetics. Part A 2008;146A(14):1807-14.
2008: Borck Guntram; Mollà-Herman Anahi; Boddaert Nathalie; Encha-Razavi Férechté; Philippe Anne; Robel Laurence; Desguerre Isabelle; Brunelle Francis; Benmerah Alexandre; Munnich Arnold; Colleaux Laurence
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: Molinari Florence; Foulquier François; Tarpey Patrick S; Morelle Willy; Boissel Sarah; Teague Jon; Edkins Sarah; Futreal P Andrew; Stratton Michael R; Turner Gillian; Matthijs Gert; Gecz Jozef; Munnich Arnold; Colleaux Laurence
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.
American journal of human genetics 2008;82(5):1150-7.
2008: Trochet Delphine; de Pontual Loïc; Estêvao Maria Helena; Mathieu Yves; Munnich Arnold; Feingold J; Goridis Christo; Lyonnet Stanislas; Amiel Jeanne
Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).
Human mutation 2008;29(5):770.
2008: Fusco Francesca; Pescatore Alessandra; Bal Elodie; Ghoul Aida; Paciolla Mariateresa; Lioi Maria Brigida; D'Urso Michele; Rabia Smail Hadj; Bodemer Christine; Bonnefont Jean Paul; Munnich Arnold; Miano Maria Giuseppina; Smahi Asma; Ursini Matilde Valeria
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Human mutation 2008;29(5):595-604.
2008: Minai Limor; Martinovic Jelena; Chretien Dominique; Dumez Françoise; Razavi Férechté; Munnich Arnold; Rötig Agnès
Mitochondrial respiratory chain complex assembly and function during human fetal development.
Molecular genetics and metabolism 2008;94(1):120-6.
2008: Girard Muriel; Jacquemin Emmanuel; Munnich Arnold; Lyonnet Stanislas; Henrion-Caude Alexandra
miR-122, a paradigm for the role of microRNAs in the liver.
Journal of hepatology 2008;48(4):648-56.
2008: Bastin Jean; Aubey Flore; Rötig Agnès; Munnich Arnold; Djouadi Fatima
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: Trochet Delphine; de Pontual Loïc; Straus Christian; Gozal David; Trang Ha; Landrieu Pierre; Munnich Arnold; Lyonnet Stanislas; Gaultier Claude; Amiel Jeanne
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: Mollet Julie; Delahodde Agnès; Serre Valérie; Chretien Dominique; Schlemmer Dimitri; Lombes Anne; Boddaert Nathalie; Desguerre Isabelle; de Lonlay Pascale; de Baulny Hélène Ogier; Munnich Arnold; Rötig Agnès
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
American journal of human genetics 2008;82(3):623-30.
2008: Geneviève David; Proulle Valérie; Isidor Bertrand; Bellais Samuel; Serre Valérie; Djouadi Fatima; Picard Capucine; Vignon-Savoye Capucine; Bader-Meunier Brigitte; Blanche Stéphane; de Vernejoul Marie-Christine; Legeai-Mallet Laurence; Fischer Anne-Marie; Le Merrer Martine; Dreyfus Marie; Gaussem Pascale; Munnich Arnold; Cormier-Daire Valérie
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
Nature genetics 2008;40(3):284-6.
2008: Sohn Yang-Sung; Breuer William; Munnich Arnold; Cabantchik Z Ioav
Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications.
Blood 2008;111(3):1690-9.
2008: Romano S; Samara D; Crosnier H; Valayannopoulos V; Polak M; Chrétien D; Rötig A; Munnich A; Brauner R; de Lonlay P
Variable outcome of growth hormone administration in respiratory chain deficiency.
Molecular genetics and metabolism 2008;93(2):195-9.
2008: Schluth Caroline; Gesny Roselyne; Borck Guntram; Redon Richard; Abadie Véronique; Kleinfinger Pascale; Munnich Arnold; Lyonnet Stanislas; Colleaux Laurence
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: Amiel J; Sproat-Emison E; Garcia-Barcelo M; Lantieri F; Burzynski G; Borrego S; Pelet A; Arnold S; Miao X; Griseri P; Brooks A S; Antinolo G; de Pontual L; Clement-Ziza M; Munnich A; Kashuk C; West K; Wong K K-Y; Lyonnet S; Chakravarti A; Tam P K-H; Ceccherini I; Hofstra R M W; Fernandez R;
Hirschsprung disease, associated syndromes and genetics: a review.
Journal of medical genetics 2008;45(1):1-14.
2008: Boddaert N; Romano S; Funalot B; Rio M; Sarzi E; Lebre A S; Bahi-Buisson N; Valayannopoulos V; Desguerre I; Seidenwurm D; Brunelle F; Brami-Zylberberg F; Rötig A; Munnich A; de Lonlay P
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.
Molecular genetics and metabolism 2008;93(1):85-8.
2008: Hanein Sylvain; Perrault Isabelle; Gerber Sylvie; Delphin Nathalie; Benezra David; Shalev Stavit; Carmi Rivka; Feingold Josué; Dufier Jean-Louis; Munnich Arnold; Kaplan Josseline; Rozet Jean-Michel; Jeanpierre Marc
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: Gerber Sylvie; Hanein Sylvain; Perrault Isabelle; Delphin Nathalie; Aboussair Nisrine; Leowski Corinne; Dufier Jean-Louis; Roche Olivier; Munnich Arnold; Kaplan Josseline; Rozet Jean-Michel
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.
Human mutation 2007;28(12):1245.
2007: Sarzi Emmanuelle; Goffart Steffi; Serre Valérie; Chrétien Dominique; Slama Abdelhamid; Munnich Arnold; Spelbrink Johannes N; Rötig Agnès
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.
Annals of neurology 2007;62(6):579-87.
2007: de Pontual Loïc; Trochet Delphine; Bourdeaut Franck; Thomas Sophie; Etchevers Heather; Chompret Agnes; Minard Véronique; Valteau Dominique; Brugieres Laurence; Munnich Arnold; Delattre Olivier; Lyonnet Stanislas; Janoueix-Lerosey Isabelle; Amiel Jeanne
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: Trochet Delphine; de Pontual Loïc; Keren Boris; Munnich Arnold; Vekemans Michel; Lyonnet Stanislas; Amiel Jeanne
Polyalanine expansions might not result from unequal crossing-over.
Human mutation 2007;28(10):1043-4.
2007: Steffann J; Gigarel N; Corcos J; Bonnière M; Encha-Razavi F; Sinico M; Prevot S; Dumez Y; Yamgnane A; Frydman R; Munnich A; Bonnefont J P
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: Lebon Sophie; Minai Limor; Chretien Dominique; Corcos Johanna; Serre Valérie; Kadhom Noman; Steffann Julie; Pauchard Jean-Yves; Munnich Arnold; Bonnefont Jean-Paul; Rötig Agnès
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: Coudé François X; Mignot Claire; Lyonnet Stanislas; Munnich Arnold
Early grade repetition and inattention associated with neurofibromatosis type 1.
Journal of attention disorders 2007;11(2):101-5.
2007: de Pontual L; Pelet A; Clement-Ziza M; Trochet D; Antonarakis S E; Attie-Bitach T; Beales P L; Blouin J-L; Dastot-Le Moal F; Dollfus H; Goossens M; Katsanis N; Touraine R; Feingold J; Munnich A; Lyonnet S; Amiel J
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.
Human mutation 2007;28(8):790-6.
2007: Maystadt Isabelle; Rezsöhazy René; Barkats Martine; Duque Sandra; Vannuffel Pascal; Remacle Sophie; Lambert Barbara; Najimi Mustapha; Sokal Etienne; Munnich Arnold; Viollet Louis; Verellen-Dumoulin Christine
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: Boddaert Nathalie; Le Quan Sang Kim Hanh; Rötig Agnès; Leroy-Willig Anne; Gallet Serge; Brunelle Francis; Sidi Daniel; Thalabard Jean-Christophe; Munnich Arnold; Cabantchik Z Ioav
Selective iron chelation in Friedreich ataxia: biologic and clinical implications.
Blood 2007;110(1):401-8.
2007: Bal E; Baala L; Cluzeau C; El Kerch F; Ouldim K; Hadj-Rabia S; Bodemer C; Munnich A; Courtois G; Sefiani A; Smahi A
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.
Human mutation 2007;28(7):703-9.
2007: Benoist-Lasselin Catherine; Gibbs Linda; Heuertz Solange; Odent Thierry; Munnich Arnold; Legeai-Mallet Laurence
Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: an in vitro model to study chondrodysplasias.
FEBS letters 2007;581(14):2593-8.
2007: Golzio Christelle; Martinovic-Bouriel Jelena; Thomas Sophie; Mougou-Zrelli Soumaya; Grattagliano-Bessieres Bettina; Bonniere Maryse; Delahaye Sophie; Munnich Arnold; Encha-Razavi Ferechte; Lyonnet Stanislas; Vekemans Michel; Attie-Bitach Tania; Etchevers Heather C
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: Bourdon Alice; Minai Limor; Serre Valérie; Jais Jean-Philippe; Sarzi Emmanuelle; Aubert Sophie; Chrétien Dominique; de Lonlay Pascale; Paquis-Flucklinger Véronique; Arakawa Hirofumi; Nakamura Yusuke; Munnich Arnold; Rötig Agnès
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
Nature genetics 2007;39(6):776-80.
2007: Rötig Agnès; Mollet Julie; Rio Marlène; Munnich Arnold
Infantile and pediatric quinone deficiency diseases.
Mitochondrion 2007;7 Suppl():S112-21.
2007: Sarzi Emmanuelle; Bourdon Alice; Chrétien Dominique; Zarhrate Mohamed; Corcos Johanna; Slama Abdelhamid; Cormier-Daire Valérie; de Lonlay Pascale; Munnich Arnold; Rötig Agnès
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: Amiel Jeanne; Rio Marlene; de Pontual Loic; Redon Richard; Malan Valerie; Boddaert Nathalie; Plouin Perrine; Carter Nigel P; Lyonnet Stanislas; Munnich Arnold; Colleaux Laurence
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: Dagoneau N; Bellais S; Blanchet P; Sarda P; Al-Gazali L I; Di Rocco M; Huber C; Djouadi F; Le Goff C; Munnich A; Cormier-Daire V
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: Gomes-Pereira Mário; Foiry Laurent; Nicole Annie; Huguet Aline; Junien Claudine; Munnich Arnold; Gourdon Geneviève
CTG trinucleotide repeat "big jumps": large expansions, small mice.
PLoS genetics 2007;3(4):e52.
2007: Baala Lekbir; Briault Sylvain; Etchevers Heather C; Laumonnier Frédéric; Natiq Abdelhafid; Amiel Jeanne; Boddaert Nathalie; Picard Capucine; Sbiti Aziza; Asermouh Abdellah; Attié-Bitach Tania; Encha-Razavi Féréchté; Munnich Arnold; Sefiani Abdelaziz; Lyonnet Stanislas
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: Perrault Isabelle; Delphin Nathalie; Hanein Sylvain; Gerber Sylvie; Dufier Jean-Louis; Roche Olivier; Defoort-Dhellemmes Sabine; Dollfus Hélène; Fazzi Elisa; Munnich Arnold; Kaplan Josseline; Rozet Jean-Michel
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Human mutation 2007;28(4):416.
2007: Lebon Sophie; Rodriguez Diana; Bridoux Delphine; Zerrad Amal; Rötig Agnès; Munnich Arnold; Legrand Alain; Slama Abdelhamid
A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.
Molecular genetics and metabolism 2007;90(4):379-82.
2007: Mollet Julie; Giurgea Irina; Schlemmer Dimitri; Dallner Gustav; Chretien Dominique; Delahodde Agnès; Bacq Delphine; de Lonlay Pascale; Munnich Arnold; Rötig Agnès
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: Borck Guntram; Zarhrate Mohamed; Bonnefont Jean-Paul; Munnich Arnold; Cormier-Daire Valérie; Colleaux Laurence
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
Human mutation 2007;28(2):205-6.
2007: Basel-Vanagaite Lina; Pelet Anna; Steiner Zvi; Munnich Arnold; Rozenbach Yoram; Shohat Mordechai; Lyonnet Stanislas
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: Baala Lekbir; Romano Stephane; Khaddour Rana; Saunier Sophie; Smith Ursula M; Audollent Sophie; Ozilou Catherine; Faivre Laurence; Laurent Nicole; Foliguet Bernard; Munnich Arnold; Lyonnet Stanislas; Salomon Remi; Encha-Razavi Ferechte; Gubler Marie-Claire; Boddaert Nathalie; de Lonlay Pascale; Johnson Colin A; Vekemans Michel; Antignac Corinne; Attie-Bitach Tania
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
American journal of human genetics 2007;80(1):186-94.
2007: Sarzi Emmanuelle; Brown Michael D; Lebon Sophie; Chretien Dominique; Munnich Arnold; Rotig Agnès; Procaccio Vincent
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: Pelletier Valérie; Jambou Marguerite; Delphin Nathalie; Zinovieva Elena; Stum Morgane; Gigarel Nadine; Dollfus Hélène; Hamel Christian; Toutain Annick; Dufier Jean-Louis; Roche Olivier; Munnich Arnold; Bonnefont Jean-Paul; Kaplan Josseline; Rozet Jean-Michel
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: Ducroq Dominique; Shalev Stavit; Habib Aviv; Munnich Arnold; Kaplan Josseline; Rozet Jean-Michel
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: Jacquemont M-L; Sanlaville D; Redon R; Raoul O; Cormier-Daire V; Lyonnet S; Amiel J; Le Merrer M; Heron D; de Blois M-C; Prieur M; Vekemans M; Carter N P; Munnich A; Colleaux L; Philippe A
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: Burlet P; Frydman N; Gigarel N; Kerbrat V; Tachdjian G; Feyereisen E; Bonnefont J-P; Frydman R; Munnich A; Steffann J
Multiple displacement amplification improves PGD for fragile X syndrome.
Molecular human reproduction 2006;12(10):647-52.
2006: Saker Ali; Benachi Alexandra; Bonnefont Jean Paul; Munnich Arnold; Dumez Yves; Lacour Bernard; Paterlini-Brechot Patrizia
Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosis.
Prenatal diagnosis 2006;26(10):906-16.
2006: Bouchet C; Steffann J; Corcos J; Monnot S; Paquis V; Rötig A; Lebon S; Levy P; Royer G; Giurgea I; Gigarel N; Benachi A; Dumez Y; Munnich A; Bonnefont J P
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: Coudé François X; Mignot Claire; Lyonnet Stanislas; Munnich Arnold
Academic impairment is the most frequent complication of neurofibromatosis type-1 (NF1) in children.
Behavior genetics 2006;36(5):660-4.
2006: Didelot Gérard; Molinari Florence; Tchénio Paul; Comas Daniel; Milhiet Elodie; Munnich Arnold; Colleaux Laurence; Preat Thomas
Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila.
Science (New York, N.Y.) 2006;313(5788):851-3.
2006: Borck Guntram; Zarhrate Mohamed; Cluzeau Céline; Bal Elodie; Bonnefont Jean-Paul; Munnich Arnold; Cormier-Daire Valérie; Colleaux Laurence
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: Naïmi Mourad; Bannwarth Sylvie; Procaccio Vincent; Pouget Jean; Desnuelle Claude; Pellissier Jean-François; Rötig Agnes; Munnich Arnold; Calvas Patrick; Richelme Christian; Jonveaux Philippe; Castelnovo Giovanni; Simon Mariella; Clanet Michel; Wallace Douglas; Paquis-Flucklinger Véronique
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: Maystadt I; Zarhrate M; Leclair-Richard D; Estournet B; Barois A; Renault F; Routon M-C; Durand M-C; Lefebvre S; Munnich A; Verellen-Dumoulin C; Viollet L
A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36.
Neurology 2006;67(1):120-4.
2006: Benoist-Lasselin Catherine; de Margerie Emmanuel; Gibbs Linda; Cormier Sarah; Silve Caroline; Nicolas Gisèle; LeMerrer Martine; Mallet Jean-Francois; Munnich Arnold; Bonaventure Jacky; Zylberberg Louise; Legeai-Mallet Laurence
Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patients.
Bone 2006;39(1):17-26.
2006: Feyereisen E; Romana S; Kerbrat V; Steffann J; Gigarel N; Lelorc'h M; Burlet P; Ray P; Hamamah S; Chevalier N; Fanchin R; Foix-L'hélias L; Tachdjian G; Munnich A; Frydman R; Vekemans M; Frydman N
[Preimplantation genetic diagnosis (PGD): results from a Parisian center]
Journal de gynécologie, obstétrique et biologie de la reproduction 2006;35(4):356-72.
2006: De Leersnyder Hélène; Claustrat Bruno; Munnich Arnold; Verloes Alain
Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome.
Molecular and cellular endocrinology 2006;252(1-2):88-91.
2006: Redon Richard; Baujat Geneviève; Sanlaville Damien; Le Merrer Martine; Vekemans Michel; Munnich Arnold; Carter Nigel P; Cormier-Daire Valérie; Colleaux Laurence
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: de Pontual L; Pelet A; Trochet D; Jaubert F; Espinosa-Parrilla Y; Munnich A; Brunet J-F; Goridis C; Feingold J; Lyonnet S; Amiel J
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: Morlon Aurore; Smahi Asma; Munnich Arnold
[New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1]
Médecine sciences : M/S 2006;22(3):229-30.
2006: Barnérias Christine; Giurgea Irina; Hertz-Pannier Lucie; Bahi-Buisson Nadia; Boddaert Nathalie; Rustin Pierre; Rotig Agnés; Desguerre Isabelle; Munnich Arnold; de Lonlay Pascale
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Developmental medicine and child neurology 2006;48(3):227-30.
2006: Sanlaville D; Etchevers H C; Gonzales M; Martinovic J; Clément-Ziza M; Delezoide A-L; Aubry M-C; Pelet A; Chemouny S; Cruaud C; Audollent S; Esculpavit C; Goudefroye G; Ozilou C; Fredouille C; Joye N; Morichon-Delvallez N; Dumez Y; Weissenbach J; Munnich A; Amiel J; Encha-Razavi F; Lyonnet S; Vekemans M; Attié-Bitach T
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: Steffann J; Frydman N; Gigarel N; Burlet P; Ray P F; Fanchin R; Feyereisen E; Kerbrat V; Tachdjian G; Bonnefont J-P; Frydman R; Munnich A
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: Romano S; Boddaert N; Desguerre I; Hubert L; Salomon R; Seidenwurm D; Bahi-Buisson N; Nabbout R; Sonigo P; Lyonnet S; Brunelle F; Munnich A; de Lonlay P
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.
Neuropediatrics 2006;37(1):42-5.
2006: Gerber Sylvie; Bonneau Dominique; Gilbert Brigitte; Munnich Arnold; Dufier Jean-Louis; Rozet Jean-Michel; Kaplan Josseline
USH1A: chronicle of a slow death.
American journal of human genetics 2006;78(2):357-9.
2006: Thauvin-Robinet Christel; Faivre Laurence; Huet Frédéric; Journeau Pierre; Glorion Christophe; Rustin Pierre; Rötig Agnès; Munnich Arnold; Cormier-Daire Valérie
Another observation with VATER association and a complex IV respiratory chain deficiency.
European journal of medical genetics 2006;49(1):71-7.
2006: Coudé François X; Mignot Claire; Lyonnet Stanislas; Munnich Arnold
Discontinuity in the fall of left-handedness in a French population: a May '68 effect?
Laterality 2006;11(1):33-5.
2006: Feyereisen E; Amar A; Kerbrat V; Steffann J; Munnich A; Vekemans M; Frydman R; Frydman N
Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?
Human reproduction (Oxford, England) 2006;21(1):175-82.
2006: Barbet Fabienne; Gerber Sylvie; Hakiki Sélim; Perrault Isabelle; Hanein Sylvain; Ducroq Dominique; Tanguy Gaëlle; Dufier Jean-Louis; Munnich Arnold; Kaplan Josseline; Rozet Jean-Michel
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: Hanein Sylvain; Perrault Isabelle; Gerber Sylvie; Dollfus Hélène; Dufier Jean-Louis; Feingold Josué; Munnich Arnold; Bhattacharya Shomi; Kaplan Josseline; Sahel José-Alain; Rozet Jean-Michel; Leveillard Thierry
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.
2005: Morlon Aurore; Munnich Arnold; Smahi Asma
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: Trochet Delphine; Hong Seok Jong; Lim Jin Kyu; Brunet Jean-François; Munnich Arnold; Kim Kwang-Soo; Lyonnet Stanislas; Goridis Christo; Amiel Jeanne
Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.
Human molecular genetics 2005;14(23):3697-708.
2005: Munnich Arnold
[Advances in genetics: which benefits for the patients?]
Médecine sciences : M/S 2005;21(11):899-900.
2005: Geneviève D; Walter E; Gorry P; Jacquemont M L; Dupic L; Layet V; Munnich A; Cormier-Daire V; Dommergues M; Lyonnet S; Mitanchez D
Gorlin syndrome presenting as prenatal chylothorax in a girl.
Prenatal diagnosis 2005;25(11):997-9.
2005: Huber Céline; Dias-Santagata Dora; Glaser Anna; O'Sullivan James; Brauner Raja; Wu Kenneth; Xu Xinsong; Pearce Kerra; Wang Rong; Uzielli Maria Luisa Giovannucci; Dagoneau Nathalie; Chemaitilly Wassim; Superti-Furga Andrea; Dos Santos Heloisa; Mégarbané André; Morin Gilles; Gillessen-Kaesbach Gabriele; Hennekam Raoul; Van der Burgt Ineke; Black Graeme C M; Clayton Peter E; Read Andrew; Le Merrer Martine; Scambler Peter J; Munnich Arnold; Pan Zhen-Qiang; Winter Robin; Cormier-Daire Valérie
Identification of mutations in CUL7 in 3-M syndrome.
Nature genetics 2005;37(10):1119-24.
2005: Steffann J; Frydman N; Burlet P; Gigarel N; Feyereisen E; Kerbrat V; Tachdjian G; Munnich A; Frydman R
[Extending preimplantation genetic diagnosis to HLA typing: the Paris experience]
Gynécologie, obstétrique & fertilité 2005;33(10):824-7.
2005: Burlet Philippe; Frydman Nelly; Gigarel Nadine; Bonnefont Jean Paul; Kerbrat Violaine; Tachdjian Gérard; Frydman René; Munnich Arnold; Steffann Julie; Ray Pierre F
Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy.
Fertility and sterility 2005;84(3):734-9.
2005: Geneviève David; Sanlaville Damien; Faivre Laurence; Kottler Marie-Laure; Jambou Marguerite; Gosset Philippe; Boustani-Samara Dinane; Pinto Graziella; Ozilou Catherine; Abeguilé Geneviève; Munnich Arnold; Romana Serge; Raoul Odile; Cormier-Daire Valérie; Vekemans Michel
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: Clément-Ziza Mathieu; Brody Yehuda; Munnich Arnold; Lyonnet Stanislas; Besmond Claude
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: Baujat Geneviève; Rio Marlène; Rossignol Sylvie; Sanlaville Damien; Lyonnet Stanislas; Le Merrer Martine; Munnich Arnold; Gicquel Christine; Colleaux Laurence; Cormier-Daire Valérie
Clinical and molecular overlap in overgrowth syndromes.
American journal of medical genetics. Part C, Seminars in medical genetics 2005;137C(1):4-11.
2005: Clément-Ziza Mathieu; Khen Naziha; Gonzales Jacques; Crétolle-Vastel Célia; Picard Jean-Yves; Tullio-Pelet Anna; Besmond Claude; Munnich Arnold; Lyonnet Stanislas; Nihoul-Fékété Claire
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: Frydman N; Romana S; Ray P; Hamamah S; Tachdjian G; Marcadet-Fredet S; Munnich A; Vekemans M; Frydman R
[The Paris experience in preimplantation genetic diagnosis: evaluation after the first births]
Annales d'endocrinologie 2005;66(3):294-301.
2005: Geneviève D; Le Merrer M; Munnich A; Maroteaux P; Cormier-Daire V
Long-term follow-up in a patient with metatropic dysplasia.
American journal of medical genetics. Part A 2005;135(3):342-3.
2005: Valianpour Fredoen; Mitsakos Voula; Schlemmer Dimitri; Towbin Jeffrey A; Taylor Juliet M; Ekert Paul G; Thorburn David R; Munnich Arnold; Wanders Ronald J A; Barth Peter G; Vaz Frédéric M
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis.
Journal of lipid research 2005;46(6):1182-95.
2005: Sanlaville Damien; Genevieve David; Bernardin Céline; Amiel Jeanne; Baumann Clarisse; de Blois Marie-Christine; Cormier-Daire Valérie; Gerard Bénédicte; Gerard Marion; Le Merrer Martine; Parent Philippe; Prieur Fabienne; Prieur Marguerite; Raoul Odile; Toutain Annick; Verloes Alain; Viot Géraldine; Romana Serge; Munnich Arnold; Lyonnet Stanislas; Vekemans Michel; Turleau Catherine
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: Sanlaville Damien; Prieur Marguerite; de Blois Marie-Christine; Genevieve David; Lapierre Jean-Michel; Ozilou Catherine; Picq Monique; Gosset Philippe; Morichon-Delvallez Nicole; Munnich Arnold; Cormier-Daire Valerie; Baujat Genevieve; Romana Serge; Vekemans Michel; Turleau Catherine
Functional disomy of the Xq28 chromosome region.
European journal of human genetics : EJHG 2005;13(5):579-85.
2005: Geneviève David; Héron Delphine; El Ghouzzi Vincent; Prost-Squarcioni Catherine; Le Merrer Martine; Jacquette Aurélia; Sanlaville Damien; Pinton Florence; Villeneuve Nathalie; Kalifa Gabriel; Munnich Arnold; Cormier-Daire Valérie
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: Flis-Trèves M; Frydman N; Frydman R; Kerbrat V; Munnich A; Vekemans M
[Pre-implantation genetic diagnosis and spontaneous pregnancies: an unexpected acting out]
Gynécologie, obstétrique & fertilité 2005;33(4):235-8.
2005: Ching Yung-Hao; Ghosh Tushar K; Cross Steve J; Packham Elizabeth A; Honeyman Louise; Loughna Siobhan; Robinson Thelma E; Dearlove Andrew M; Ribas Gloria; Bonser Andrew J; Thomas Neil R; Scotter Andrew J; Caves Leo S D; Tyrrell Graham P; Newbury-Ecob Ruth A; Munnich Arnold; Bonnet Damien; Brook J David
Mutation in myosin heavy chain 6 causes atrial septal defect.
Nature genetics 2005;37(4):423-8.
2005: Goldenberg Alice; Ngoc Linh Huynh; Thouret Marie-Christine; Cormier-Daire Valérie; Gagnadoux Marie-France; Chrétien Dominique; Lefrançois Catherine; Geromel Vanna; Rötig Agnès; Rustin Pierre; Munnich Arnold; Paquis Véronique; Antignac Corinne; Gubler Marie-Claire; Niaudet Patrick; de Lonlay Pascale; Bérard Etienne
Respiratory chain deficiency presenting as congenital nephrotic syndrome.
Pediatric nephrology (Berlin, Germany) 2005;20(4):465-9.
2005: Pelet A; de Pontual L; Clément-Ziza M; Salomon R; Mugnier C; Matsuda F; Lathrop M; Munnich A; Feingold J; Lyonnet S; Abel L; Amiel J
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: Odièvre Marie-Hélène; Chretien Dominique; Munnich Arnold; Robinson Brian H; Dumoulin Renée; Masmoudi Sahben; Kadhom Noman; Rötig Agnès; Rustin Pierre; Bonnefont Jean-Paul
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: Gigarel Nadine; Ray Pierre F; Burlet Philippe; Frydman Nelly; Royer Ghislaine; Lebon Sophie; Bonnefont Jean Paul; Frydman René; Munnich Arnold; Steffann Julie
Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR.
Molecular genetics and metabolism 2005;84(3):289-92.
2005: Karmous-Benailly Houda; Martinovic Jelena; Gubler Marie-Claire; Sirot Yoann; Clech Laure; Ozilou Catherine; Auge Joëlle; Brahimi Nora; Etchevers Heather; Detrait Eric; Esculpavit Chantal; Audollent Sophie; Goudefroye Géraldine; Gonzales Marie; Tantau Julia; Loget Philippe; Joubert Madeleine; Gaillard Dominique; Jeanne-Pasquier Corinne; Delezoide Anne-Lise; Peter Marie-Odile; Plessis Ghislaine; Simon-Bouy Brigitte; Dollfus Hélène; Le Merrer Martine; Munnich Arnold; Encha-Razavi Férechté; Vekemans Michel; Attié-Bitach Tania
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
American journal of human genetics 2005;76(3):493-504.
2005: Trochet Delphine; O'Brien Louise M; Gozal David; Trang Ha; Nordenskjöld Agneta; Laudier Béatrice; Svensson Pär-Johan; Uhrig Sabine; Cole Trevor; Niemann Stephan; Munnich Arnold; Gaultier Claude; Lyonnet Stanislas; Amiel Jeanne
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
American journal of human genetics 2005;76(3):421-6.
2005: Campos-Xavier Ana Belinda; Casanova Jean-Laurent; Doumaz Yves; Feingold Josué; Munnich Arnold; Cormier-Daire Valérie
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: Redon R; Rio M; Gregory S G; Cooper R A; Fiegler H; Sanlaville D; Banerjee R; Scott C; Carr P; Langford C; Cormier-Daire V; Munnich A; Carter N P; Colleaux L
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: Perrault Isabelle; Hanein Sylvain; Gerber Sylvie; Lebail Beatrice; Vlajnik Patrice; Barbet Fabienne; Ducroq Dominique; Dufier Jean-Louis; Munnich Arnold; Kaplan Josseline; Rozet Jean-Michel
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: Molinari Florence; Raas-Rothschild Annick; Rio Marlene; Fiermonte Giuseppe; Encha-Razavi Ferechte; Palmieri Luigi; Palmieri Ferdinando; Ben-Neriah Ziva; Kadhom Noman; Vekemans Michel; Attie-Bitach Tania; Munnich Arnold; Rustin Pierre; Colleaux Laurence
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.
American journal of human genetics 2005;76(2):334-9.
2005: Barbet F; Hakiki S; Orssaud C; Gerber S; Perrault I; Hanein S; Ducroq D; Dufier J-L; Munnich A; Kaplan J; Rozet J-M
A third locus for dominant optic atrophy on chromosome 22q.
Journal of medical genetics 2005;42(1):e1.
2005: Lossos Alexander; Baala Lekbir; Soffer Dov; Averbuch-Heller Lea; Dotan Shlomo; Munnich Arnold; Lyonnet Stanislas; Gomori J Moshe; Genem Adnan; Neufeld Meir; Abramsky Oded; Zlotogora Joel; Argov Zohar
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: Borck G; Redon R; Sanlaville D; Rio M; Prieur M; Lyonnet S; Vekemans M; Carter N P; Munnich A; Colleaux L; Cormier-Daire V
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.
Journal of medical genetics 2004;41(12):e128.
2004: Rötig Agnès; Lebon Sophie; Zinovieva Elena; Mollet Julie; Sarzi Emmanuelle; Bonnefont Jean-Paul; Munnich Arnold
Molecular diagnostics of mitochondrial disorders.
Biochimica et biophysica acta 2004;1659(2-3):129-35.
2004: Hadj-Rabia Smail; Baala Lekbir; Vabres Pierre; Hamel-Teillac Dominique; Jacquemin Emmanuel; Fabre Monique; Lyonnet Stanislas; De Prost Yves; Munnich Arnold; Hadchouel Michelle; Smahi Asma
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease.
Gastroenterology 2004;127(5):1386-90.
2004: Clermont Olivier; Burlet Philippe; Benit Paule; Chanterau Dominique; Saugier-Veber Pascale; Munnich Arnold; Cusin Veronica
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: Dagoneau Nathalie; Benoist-Lasselin Catherine; Huber Céline; Faivre Laurence; Mégarbané André; Alswaid Abdulrahman; Dollfus Hélène; Alembik Yves; Munnich Arnold; Legeai-Mallet Laurence; Cormier-Daire Valérie
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.
American journal of human genetics 2004;75(5):801-6.
2004: Ghozlan Aline; Munnich Arnold
[MAOB: a modifier gene in phenylketonuria?]
Médecine sciences : M/S 2004;20(10):929-32.
2004: Bonnefont Jean-Paul; Djouadi Fatima; Prip-Buus Carina; Gobin Stephanie; Munnich Arnold; Bastin Jean
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.
Molecular aspects of medicine 2004;25(5-6):495-520.
2004: Amiel Jeanne; Trochet Delphine; Clément-Ziza Mathieu; Munnich Arnold; Lyonnet Stanislas
Polyalanine expansions in human.
Human molecular genetics 2004;13 Spec No 2():R235-43.
2004: Trang Ha; Laudier Béatrice; Trochet Delphine; Munnich Arnold; Lyonnet Stanislas; Gaultier Claude; Amiel Jeanne
PHOX2B gene mutation in a patient with late-onset central hypoventilation.
Pediatric pulmonology 2004;38(4):349-51.
2004: Perrault Isabelle; Hanein Sylvain; Gerber Sylvie; Barbet Fabienne; Ducroq Dominique; Dollfus Helene; Hamel Christian; Dufier Jean-Louis; Munnich Arnold; Kaplan Josseline; Rozet Jean-Michel
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
American journal of human genetics 2004;75(4):639-46.
2004: Paupe Vincent; Gilbert Thierry; Le Merrer Martine; Munnich Arnold; Cormier-Daire Valérie; El Ghouzzi Vincent
Recent advances in Dyggve-Melchior-Clausen syndrome.
Molecular genetics and metabolism 2004;83(1-2):51-9.
2004: Cormier-Daire V; Geneviève D; Munnich A; Le Merrer M
New insights in congenital bowing of the femora.
Clinical genetics 2004;66(3):169-76.
2004: Philippe A; Deron J; Geneviève D; de Lonlay P; Gibson K M; Rabier D; Munnich A
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria).
Developmental medicine and child neurology 2004;46(8):564-8.
2004: Geneviève D; Amiel J; Viot G; Le Merrer M; Sanlaville D; Urtizberea A; Gérard M; Munnich A; Cormier-Daire V; Lyonnet Stanislas
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: Borck G; Rio M; Sanlaville D; Redon R; Molinari F; Bacq D; Raoul O; Cormier-Daire V; Lyonnet S; Amiel J; Le Merrer M; de Blois M-C; Prieur M; Vekemans M; Carter N P; Munnich A; Colleaux L
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: Faivre Laurence; Le Merrer Martine; Zerres Klaus; Ben Hariz Mongi; Scheffer Déborah; Young Ian D; Maroteaux Pierre; Munnich Arnold; Cormier-Daire Valérie
Clinical and genetic heterogeneity in Desbuquois dysplasia.
American journal of medical genetics. Part A 2004;128A(1):29-32.
2004: Genevieve D; Baumann C; Huber C; Faivre L; Sanlaville D; Bodemer C; Hadj-Rabia S; Assoumou A; Verloes A; Raqbi F; Munnich A; Cormier-Daire V
A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation.
Journal of medical genetics 2004;41(6):e77.
2004: Rio M; Colleaux L; Sanlaville D; Borck G; Molinari F; Munnich A
[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: Viollet Louis; Zarhrate Mohammed; Maystadt Isabelle; Estournet-Mathiaut Brigitte; Barois Annie; Desguerre Isabelle; Mayer Michèle; Chabrol Brigitte; LeHeup Bruno; Cusin Veronica; Billette De Villemeur Thierry; Bonneau Dominique; Saugier-Veber Pascale; Touzery-De Villepin Anne; Delaubier Anne; Kaplan Jocelyne; Jeanpierre Marc; Feingold Joshué; Munnich Arnold
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: Steffann Julie; Raclin Valérie; Smahi Asmae; Woffendin Hayley; Munnich Arnold; Kenwrick Sue J; Grebille Anne-Gaelle; Benachi Alexandra; Dumez Yves; Bonnefont Jean-Paul; Hadj-Rabia Smaïl
A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti.
Prenatal diagnosis 2004;24(5):384-8.
2004: Pinson L; Augé J; Audollent S; Mattéi G; Etchevers H; Gigarel N; Razavi F; Lacombe D; Odent S; Le Merrer M; Amiel J; Munnich A; Meroni G; Lyonnet S; Vekemans M; Attié-Bitach T
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome.
Journal of medical genetics 2004;41(5):381-6.
2004: Borochowitz Z U; Scheffer D; Adir V; Dagoneau N; Munnich A; Cormier-Daire V
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: Maystadt I; Zarhrate M; Landrieu P; Boespflug-Tanguy O; Sukno S; Collignon P; Melki J; Verellen-Dumoulin C; Munnich A; Viollet L
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.
Human mutation 2004;23(5):525-6.
2004: Espinosa-Parrilla Yolanda; Encha-Razavi Férechté; Attié-Bitach Tania; Martinovic Jelena; Morichon-Delvallez Nicole; Munnich Arnold; Vekemans Michel; Lyonnet Stanislas; Amiel Jeanne
Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum.
Prenatal diagnosis 2004;24(4):298-301.
2004: Viot Géraldine; Sonigo Pascale; Simon Isabelle; Simon-Bouy Brigitte; Chadeyron Frédéric; Beldjord Cherif; Tantau Julia; Martinovic Jelena; Esculpavit Chantal; Brunelle Francis; Munnich Arnold; Vekemans Michel; Encha-Razavi Férechté
Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different.
American journal of medical genetics. Part A 2004;126A(2):123-8.
2004: Hanein Sylvain; Perrault Isabelle; Gerber Sylvie; Tanguy Gaëlle; Barbet Fabienne; Ducroq Dominique; Calvas Patrick; Dollfus Hélène; Hamel Christian; Lopponen Tuija; Munier Francis; Santos Louisa; Shalev Stavit; Zafeiriou Dimitrios; Dufier Jean-Louis; Munnich Arnold; Rozet Jean-Michel; Kaplan Josseline
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: Trochet Delphine; Bourdeaut Franck; Janoueix-Lerosey Isabelle; Deville Anne; de Pontual Loïc; Schleiermacher Gudrun; Coze Carole; Philip Nicole; Frébourg Thierry; Munnich Arnold; Lyonnet Stanislas; Delattre Olivier; Amiel Jeanne
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.
American journal of human genetics 2004;74(4):761-4.
2004: Baujat Geneviève; Rio Marlène; Rossignol Sylvie; Sanlaville Damien; Lyonnet Stanislas; Le Merrer Martine; Munnich Arnold; Gicquel Christine; Cormier-Daire Valérie; Colleaux Laurence
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.
American journal of human genetics 2004;74(4):715-20.
2004: Lapierre J-M; Sanlaville D; Kang J; Ozilou C; Le Lorc'h M; Waill M-C; Prieur M; Colleaux L; Munnich A; Turleau C; Benkhalifa M; Mohammed M; Vekemans M; Romana S
[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: Rustin Pierre; Bonnet Damien; Rötig Agnès; Munnich Arnold; Sidi Daniel
Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial.
Neurology 2004;62(3):524-5; author reply 525; discussion 525.
2004: Dagoneau Nathalie; Scheffer Deborah; Huber Céline; Al-Gazali Lihadh I; Di Rocco Maja; Godard Anne; Martinovic Jelena; Raas-Rothschild Annick; Sigaudy Sabine; Unger Sheila; Nicole Sophie; Fontaine Bertrand; Taupin Jean-Luc; Moreau Jean-François; Superti-Furga Andrea; Le Merrer Martine; Bonaventure Jacky; Munnich Arnold; Legeai-Mallet Laurence; Cormier-Daire Valérie
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: Goldenberg Alice; Wolf Claude; Chevy Françoise; Benachi Alexandra; Dumez Yves; Munnich Arnold; Cormier-Daire Valérie
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: Gigarel Nadine; Frydman Nelly; Burlet Philippe; Kerbrat Violaine; Steffann Julie; Frydman René; Munnich Arnold; Ray Pierre F
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: Chretien Dominique; Slama Abdelhamid; Brière Jean-Jacques; Munnich Arnold; Rötig Agnès; Rustin Pierre
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: Legeai-Mallet L; Benoist-Lasselin C; Munnich A; Bonaventure J
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: Bénit P; Slama A; Cartault F; Giurgea I; Chretien D; Lebon S; Marsac C; Munnich A; Rötig A; Rustin P
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
Journal of medical genetics 2004;41(1):14-7.
2004: Faivre Laurence; Cormier-Daire Valérie; Young Ian; Bracq Henri; Finidori Georges; Padovani Jean Paul; Odent Sylvie; Lachman Ralph; Munnich Arnold; Maroteaux Pierre; Le Merrer Martine
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: Faivre Laurence; Cormier-Daire Valérie; Eliott Alison M; Field Fiona; Munnich Arnold; Maroteaux Pierre; Le Merrer Martine; Lachman Ralph
Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations.
American journal of medical genetics. Part A 2004;124A(1):48-53.
2004: Rustin Pierre; Munnich Arnold; Rötig Agnès
Mitochondrial respiratory chain dysfunction caused by coenzyme Q deficiency.
Methods in enzymology 2004;382():81-8.
2003: Lebon S; Chol M; Benit P; Mugnier C; Chretien D; Giurgea I; Kern I; Girardin E; Hertz-Pannier L; de Lonlay P; Rötig A; Rustin P; Munnich A
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
Journal of medical genetics 2003;40(12):896-9.
2003: Rötig Agnès; Munnich Arnold
Genetic features of mitochondrial respiratory chain disorders.
Journal of the American Society of Nephrology : JASN 2003;14(12):2995-3007.
2003: Royer Ghislaine; Hanein Sylvain; Raclin Valérie; Gigarel Nadine; Rozet Jean-Michel; Munnich Arnold; Steffann Julie; Dufier Jean-Louis; Kaplan Josseline; Bonnefont Jean-Paul
NDP gene mutations in 14 French families with Norrie disease.
Human mutation 2003;22(6):499.
2003: Faivre Laurence; Dollfus Hélène; Lyonnet Stanislas; Alembik Yves; Mégarbané André; Samples John; Gorlin Robert J; Alswaid Abdulrahman; Feingold Josué; Le Merrer Martine; Munnich Arnold; Cormier-Daire Valérie
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
American journal of medical genetics. Part A 2003;123A(2):204-7.
2003: Goldenberg Alice; Milh Mathieu; de Lagausie Pascal; Mesnage Renaud; Benarif Fatiha; de Blois Marie-Christine; Munnich Arnold; Lyonnet Stanislas; Cormier-Daire Valérie
Werner mesomelic dysplasia with Hirschsprung disease.
American journal of medical genetics. Part A 2003;123A(2):186-9.
2003: de Pontual Loïc; Népote Virginie; Attié-Bitach Tania; Al Halabiah Hassan; Trang Ha; Elghouzzi Vincent; Levacher Béatrice; Benihoud Karim; Augé Joëlle; Faure Christophe; Laudier Béatrice; Vekemans Michel; Munnich Arnold; Perricaudet Michel; Guillemot François; Gaultier Claude; Lyonnet Stanislas; Simonneau Michel; Amiel Jeanne
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: Barbet Fabienne; Gerber Sylvie; Hakiki Sélim; Perrault Isabelle; Hanein Sylvain; Ducroq Dominique; Tanguy Gaëlle; Dufier Jean-Louis; Munnich Arnold; Rozet Jean-Michel; Kaplan Josseline
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: De Leersnyder H; de Blois M-C; Bresson J-L; Sidi D; Claustrat B; Munnich A
[Inversion of the circadian melatonin rhythm in Smith-Magenis syndrome]
Revue neurologique 2003;159(11 Suppl):6S21-6.
2003: Darin Niklas; Kadhom Norman; Brière Jean-Jacques; Chretien Dominique; Bébéar Cécile M; Rötig Agnès; Munnich Arnold; Rustin Pierre
Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis.
BMC biochemistry 2003;4():15.
2003: Courtois Gilles; Smahi Asma; Reichenbach Janine; Döffinger Rainer; Cancrini Caterina; Bonnet Marion; Puel Anne; Chable-Bessia Christine; Yamaoka Shoji; Feinberg Jacqueline; Dupuis-Girod Sophie; Bodemer Christine; Livadiotti Susanna; Novelli Francesco; Rossi Paolo; Fischer Alain; Israël Alain; Munnich Arnold; Le Deist Françoise; Casanova Jean-Laurent
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: Molinari Florence; Meskanaite Virginia; Munnich Arnold; Sonderegger Peter; Colleaux Laurence
Extracellular proteases and their inhibitors in genetic diseases of the central nervous system.
Human molecular genetics 2003;12 Spec No 2():R195-200.
2003: Djouadi Fatima; Bonnefont Jean-Paul; Thuillier Laure; Droin Véronique; Khadom Noman; Munnich Arnold; Bastin Jean
Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate.
Pediatric research 2003;54(4):446-51.
2003: von Kleist-Retzow Jürgen-Christoph; Cormier-Daire Valérie; Viot Géraldine; Goldenberg Alice; Mardach Becky; Amiel Jeanne; Saada Philippe; Dumez Yves; Brunelle Francis; Saudubray Jean-Marie; Chrétien Dominique; Rötig Agnès; Rustin Pierre; Munnich Arnold; De Lonlay Pascale
Antenatal manifestations of mitochondrial respiratory chain deficiency.
The Journal of pediatrics 2003;143(2):208-12.
2003: de Mollerat Xavier J; Gurrieri Fiorella; Morgan Chad T; Sangiorgi Eugenio; Everman David B; Gaspari Paola; Amiel Jeanne; Bamshad Michael J; Lyle Robert; Blouin Jean-Louis; Allanson Judith E; Le Marec Bernard; Wilson Melba; Braverman Nancy E; Radhakrishna Uppala; Delozier-Blanchet Celia; Abbott Albert; Elghouzzi Vincent; Antonarakis Stylianos; Stevenson Roger E; Munnich Arnold; Neri Giovanni; Schwartz Charles E
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: Perrault I; Hanein S; Gerber S; Barbet F; Dufier J-L; Munnich A; Rozet J-M; Kaplan J
Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.
Journal of medical genetics 2003;40(7):e90.
2003: Rio M; Clech L; Amiel J; Faivre L; Lyonnet S; Le Merrer M; Odent S; Lacombe D; Edery P; Brauner R; Raoul O; Gosset P; Prieur M; Vekemans M; Munnich A; Colleaux L; Cormier-Daire V
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Journal of medical genetics 2003;40(6):436-40.
2003: Bénit Paule; Beugnot Réjane; Chretien Dominique; Giurgea Irina; De Lonlay-Debeney Pascale; Issartel Jean-Paul; Corral-Debrinski Marisol; Kerscher Stefan; Rustin Pierre; Rötig Agnès; Munnich Arnold
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.
Human mutation 2003;21(6):582-6.
2003: De Sandre-Giovannoli Annachiara; Bernard Rafaëlle; Cau Pierre; Navarro Claire; Amiel Jeanne; Boccaccio Irène; Lyonnet Stanislas; Stewart Colin L; Munnich Arnold; Le Merrer Martine; Lévy Nicolas
Lamin a truncation in Hutchinson-Gilford progeria.
Science (New York, N.Y.) 2003;300(5628):2055.
2003: Molinari Florence; Rio Marlène; Munnich Arnold; Colleaux Laurence
[Neurotrypsin mutations and mental retardation]
Médecine sciences : M/S 2003;19(5):525-7.
2003: Bénit Paule; Steffann Julie; Lebon Sophie; Chretien Dominique; Kadhom Noman; de Lonlay Pascale; Goldenberg Alice; Dumez Yves; Dommergues Marc; Rustin Pierre; Munnich Arnold; Rötig Agnès
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: Flis-Trèves M; Achour-Frydman N; Kerbrat V; Munnich A; Vekemans M; Frydman R
[Preimplantation genetic diagnosis and its psychological effects]
Journal de gynécologie, obstétrique et biologie de la reproduction 2003;32(2):127-31.
2003: Cormier-Daire V; Molinari F; Rio M; Raoul O; de Blois M-C; Romana S; Vekemans M; Munnich A; Colleaux L
Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?
Journal of medical genetics 2003;40(4):300-3.
2003: Faivre L; Le Merrer M; Al-Gazali L I; Ausems M G E M; Bitoun P; Bacq D; Maroteaux P; Munnich A; Cormier-Daire V
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.
Journal of medical genetics 2003;40(4):282-4.
2003: Amiel Jeanne; Laudier Béatrice; Attié-Bitach Tania; Trang Ha; de Pontual Loïc; Gener Blanca; Trochet Delphine; Etchevers Heather; Ray Pierre; Simonneau Michel; Vekemans Michel; Munnich Arnold; Gaultier Claude; Lyonnet Stanislas
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: Chol M; Lebon S; Bénit P; Chretien D; de Lonlay P; Goldenberg A; Odent S; Hertz-Pannier L; Vincent-Delorme C; Cormier-Daire V; Rustin P; Rötig A; Munnich A
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: Djouadi Fatima; Bonnefont Jean Paul; Munnich Arnold; Bastin Jean
Characterization of fatty acid oxidation in human muscle mitochondria and myoblasts.
Molecular genetics and metabolism 2003;78(2):112-8.
2003: El Ghouzzi Vincent; Dagoneau Nathalie; Kinning Esther; Thauvin-Robinet Christel; Chemaitilly Wassim; Prost-Squarcioni Catherine; Al-Gazali Lihadh I; Verloes Alain; Le Merrer Martine; Munnich Arnold; Trembath Richard C; Cormier-Daire Valérie
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.
Human molecular genetics 2003;12(3):357-64.
2003: Amiel Jeanne; Pelet Anna; Trang Ha; de Pontual Loïc; Simonneau Michel; Munnich Arnold; Gaultier Claude; Lyonnet Stanislas
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: Campos-Xavier Ana Belinda; Saraiva Jorge M; Ribeiro Letícia M; Munnich Arnold; Cormier-Daire Valérie
Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis.
Human genetics 2003;112(2):186-9.
2003: Chretien Dominique; Bénit Paule; Chol Marie; Lebon Sophie; Rötig Agnès; Munnich Arnold; Rustin Pierre
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: Ray Pierre F; Benit Paule; Bonnefont Jean Paul; Munnich Arnold
Chronology of reported denaturing high performance liquid chromatography (DHPLC)-based prenatal diagnoses.
Prenatal diagnosis 2003;23(1):81.
2003: De Leersnyder H; Bresson J L; de Blois M-C; Souberbielle J-C; Mogenet A; Delhotal-Landes B; Salefranque F; Munnich A
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: Faivre L; Gorlin R J; Wirtz M K; Godfrey M; Dagoneau N; Samples J R; Le Merrer M; Collod-Beroud G; Boileau C; Munnich A; Cormier-Daire V
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.
Journal of medical genetics 2003;40(1):34-6.
2003: Genevieve D; Cormier-Daire V; Sanlaville D; Faivre L; Gosset P; Allart L; Picq M; Munnich A; Romana S; de Blois Mc; Vekemans M
Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome.
American journal of medical genetics. Part A 2003;116A(1):90-3.
2003: Perrault Isabelle; Gerber Sylvie; Hanein Sylvain; Picaud Serge; Rozet Jean-Michel; Dufier Jean-Louis; Munnich Arnold; Sahel José; Kaplan Josseline
Leber congenital amaurosis--genotyping required for possible inclusion in a clinical trial.
Advances in experimental medicine and biology 2003;533():69-77.
2002: Gerber Sylvie; Perrault Isabelle; Hanein Sylvain; Shalev Stavit; Zlotogora Joel; Barbet Fabienne; Ducroq Dominique; Dufier Jean; Munnich Arnold; Rozet Jean; Kaplan Josseline
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: Ducroq Dominique; Rozet Jean-Michel; Gerber Sylvie; Perrault Isabelle; Barbet Dabienne; Hanein Sylvain; Hakiki Selim; Dufier Jean-Louis; Munnich Arnold; Hamel Christian; Kaplan Josseline
The ABCA4 gene in autosomal recessive cone-rod dystrophies.
American journal of human genetics 2002;71(6):1480-2.
2002: De Lonlay Pascale; Mugnier Claude; Sanlaville Damien; Chantrel-Groussard Karine; Bénit Paule; Lebon Sophie; Chrétien Dominique; Kadhom Noman; Saker Safa; Gyapay Gabor; Romana Serge; Weissenbach Jean; Munnich Arnold; Rustin Pierre; Rötig Agnès
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: Molinari Florence; Rio Marlene; Meskenaite Virginia; Encha-Razavi Férechté; Augé Joelle; Bacq Delphine; Briault Sylvain; Vekemans Michel; Munnich Arnold; Attié-Bitach Tania; Sonderegger Peter; Colleaux Laurence
Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation.
Science (New York, N.Y.) 2002;298(5599):1779-81.
2002: Faivre Laurence; Gosset Philippe; Cormier-Daire Valérie; Odent Sylvie; Amiel Jeanne; Giurgea Irina; Nassogne Marie-Cécile; Pasquier Laurent; Munnich Arnold; Romana Serge; Prieur Marguerite; Vekemans Michel; De Blois Marie-Christine; Turleau Catherine
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: Faivre L; Le Merrer M; Lyonnet S; Plauchu H; Dagoneau N; Campos-Xavier A B; Attia-Sobol J; Verloes A; Munnich A; Cormier-Daire V
Clinical and genetic heterogeneity of Seckel syndrome.
American journal of medical genetics 2002;112(4):379-83.
2002: Thauvin-Robinet C; El Ghouzzi V; Chemaitilly W; Dagoneau N; Boute O; Viot G; Mégarbané A; Sefiani A; Munnich A; Le Merrer M; Cormier-Daire V
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.
Journal of medical genetics 2002;39(10):714-7.
2002: Smahi Asma; Courtois Gilles; Rabia Smail Hadj; Döffinger Rainer; Bodemer Christine; Munnich Arnold; Casanova Jean-Laurent; Israël Alain
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: Hanein Sylvain; Perrault Isabelle; Olsen Päivi; Lopponen Tuija; Hietala Marja; Gerber Sylvie; Jeanpierre Marc; Barbet Fabienne; Ducroq Dominique; Hakiki Sélim; Munnich Arnold; Rozet Jean-Michel; Kaplan Josseline
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: Achour-Frydman N; Romana S; Ray P; Hamamah S; Tachdjian G; Munnich A; Vekemans M; Frydman R
[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: Geromel Vanna; Darin Niklas; Chrétien Dominique; Bénit Paule; DeLonlay Pascale; Rötig Agnès; Munnich Arnold; Rustin Pierre
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: Baala Lekbir; Hadj-Rabia Smaïl; Hamel-Teillac Dominique; Hadchouel Michelle; Prost Catherine; Leal Suzanne M; Jacquemin Emmanuel; Sefiani Abdelaziz; De Prost Yves; Courtois Gilles; Munnich Arnold; Lyonnet Stanislas; Vabres Pierre
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: Ray Pierre F; Frydman Nelly; Attié Tania; Hamamah Samir; Kerbrat Violaine; Tachdjian Gérard; Romana Serge; Vekemans Michel; Frydman René; Munnich Arnold
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: Espinosa-Parrilla Yolanda; Amiel Jeanne; Augé Joëlle; Encha-Razavi Férechté; Munnich Arnold; Lyonnet Stanislas; Vekemans Michel; Attié-Bitach Tania
Expression of the SMADIP1 gene during early human development.
Mechanisms of development 2002;114(1-2):187-91.
2002: Holder-Espinasse M; Marie S; Bourrouillou G; Ceballos-Picot I; Nassogne M-C; Faivre L; Amiel J; Munnich A; Vincent M-F; Cormier-Daire V
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
Journal of medical genetics 2002;39(6):440-2.
2002: Dupuis-Girod Sophie; Corradini Nadège; Hadj-Rabia Smail; Fournet Jean-Christophe; Faivre Laurence; Le Deist Françoise; Durand Philippe; Döffinger Rainer; Smahi Asma; Israel Alain; Courtois Gilles; Brousse Nicole; Blanche Stéphane; Munnich Arnold; Fischer Alain; Casanova Jean-Laurent; Bodemer Christine
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.
Pediatrics 2002;109(6):e97.
2002: Viollet Louis; Barois Annie; Rebeiz Jean G; Rifai Ziad; Burlet Philippe; Zarhrate Mohammed; Vial Elodie; Dessainte Michel; Estournet Brigitte; Kleinknecht Bernard; Pearn John; Adams Raymond D; Urtizberea Jon A; Cros Didier P; Bushby Kate; Munnich Arnold; Lefebvre Suzie
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.
Annals of neurology 2002;51(5):585-92.
2002: Rustin Pierre; Munnich Arnold; Rötig Agnès
Succinate dehydrogenase and human diseases: new insights into a well-known enzyme.
European journal of human genetics : EJHG 2002;10(5):289-91.
2002: Rötig Agnès; Sidi Daniel; Munnich Arnold; Rustin Pierre
Molecular insights into Friedreich's ataxia and antioxidant-based therapies.
Trends in molecular medicine 2002;8(5):221-4.
2002: Lefebvre Suzie; Burlet Philippe; Viollet Louis; Bertrandy Solange; Huber Céline; Belser Caroline; Munnich Arnold
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: Gabriel Stacey B; Salomon Rémi; Pelet Anna; Angrist Misha; Amiel Jeanne; Fornage Myriam; Attié-Bitach Tania; Olson Jane M; Hofstra Robert; Buys Charles; Steffann Julie; Munnich Arnold; Lyonnet Stanislas; Chakravarti Aravinda
Segregation at three loci explains familial and population risk in Hirschsprung disease.
Nature genetics 2002;31(1):89-93.
2002: Rustin Pierre; Rötig Agnès; Munnich Arnold; Sidi Daniel
Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia.
Free radical research 2002;36(4):467-9.
2002: Geromel Vanna; Rötig Agnès; Munnich Arnold; Rustin Pierre
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: Rozet J-M; Perrault I; Gigarel N; Souied E; Ghazi I; Gerber S; Dufier J-L; Munnich A; Kaplan J
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: Rio M; Molinari F; Heuertz S; Ozilou C; Gosset P; Raoul O; Cormier-Daire V; Amiel J; Lyonnet S; Le Merrer M; Turleau C; de Blois M-C; Prieur M; Romana S; Vekemans M; Munnich A; Colleaux L
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.
Journal of medical genetics 2002;39(4):266-70.
2002: Faivre Laurence; Mégarbané André; Alswaid Abdulrahman; Zylberberg Louise; Aldohayan Noura; Campos-Xavier Belinda; Bacq Delphine; Legeai-Mallet Laurence; Bonaventure Jacky; Munnich Arnold; Cormier-Daire Valérie
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.
Human genetics 2002;110(4):366-70.
2002: Hausse A O; Aggoun Y; Bonnet D; Sidi D; Munnich A; Rötig A; Rustin P
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia.
Heart (British Cardiac Society) 2002;87(4):346-9.
2002: Faivre L; Amiel J; Ouachée-Chardin M; Geneviève D; Munnich A; Cormier-Daire V; Monceaux F; Teillac D
Septo-optic dysplasia and digital anomalies: another observation.
American journal of medical genetics 2002;108(3):247-8.
2002: Viot Géraldine; Lacombe Didier; David Albert; Mathieu Michèle; de Broca Alain; Faivre Laurence; Gigarel Nadine; Munnich Arnold; Lyonnet Stanislas; Le Merrer Martine; Cormier-Daire Valérie
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: Ray Pierre F; Munnich Arnold; Nisand Israël; Frydman René; Vekemans Michel; Viville Stéphane;
The place of 'social sexing' in medicine and science.
Human reproduction (Oxford, England) 2002;17(1):248-9.
2002: Frydman René; Tachdjian Gérard; Achour-Frydman Nelly; Ray Pierre; Romana Serge; Hamamah Samir; Marcadet-Fredet Sabine; Kerbrat Violaine; Fanchin Renato; Kadoch Jacques; Attie Tania; Lelorc'h M; Vekemans Michel; Munnich Arnold
[Preimplantation genetic diagnosis: update of the Parisian group]
Bulletin de l'Académie nationale de médecine 2002;186(5):865-75; discussion 875-8.
2002: Rötig Agnès; Munnich Arnold; Rustin Pierre
Expressed sequence tag database screening for identification of human genes.
Methods in enzymology 2002;353():566-74.
2001: Campos-Xavier B; Saraiva J M; Savarirayan R; Verloes A; Feingold J; Faivre L; Munnich A; Le Merrer M; Cormier-Daire V
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.
Human genetics 2001;109(6):653-8.
2001: Amiel J; Raclin V; Jouannic J M; Morichon N; Hoffman-Radvanyi H; Dommergues M; Feingold J; Munnich A; Bonnefont J P
Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy.
Journal of medical genetics 2001;38(12):850-2.
2001: Kenwrick S; Woffendin H; Jakins T; Shuttleworth S G; Mayer E; Greenhalgh L; Whittaker J; Rugolotto S; Bardaro T; Esposito T; D'Urso M; Soli F; Turco A; Smahi A; Hamel-Teillac D; Lyonnet S; Bonnefont J P; Munnich A; Aradhya S; Kashork C D; Shaffer L G; Nelson D L; Levy M; Lewis R A;
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: Amiel J; Espinosa-Parrilla Y; Steffann J; Gosset P; Pelet A; Prieur M; Boute O; Choiset A; Lacombe D; Philip N; Le Merrer M; Tanaka H; Till M; Touraine R; Toutain A; Vekemans M; Munnich A; Lyonnet S
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: Faivre L; Le Merrer M; Baumann C; Polak M; Chatelain P; Sulmont V; Cousin J; Bost M; Cordier M P; Zackai E; Russell K; Finidori G; Pouliquen J C; Munnich A; Maroteaux P; Cormier-Daire V
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
Journal of medical genetics 2001;38(11):745-9.
2001: Aradhya S; Bardaro T; Galgóczy P; Yamagata T; Esposito T; Patlan H; Ciccodicola A; Munnich A; Kenwrick S; Platzer M; D'Urso M; Nelson D L
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: Holder-Espinasse M; de Blois M C; Faivre L; Romana S; Uteza Y; Munnich A; Lyonnet S; Cormier-Daire V; Amiel J
Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report.
Clinical dysmorphology 2001;10(4):253-5.
2001: Holder-Espinasse M; Abadie V; Cormier-Daire V; Beyler C; Manach Y; Munnich A; Lyonnet S; Couly G; Amiel J
Pierre Robin sequence: a series of 117 consecutive cases.
The Journal of pediatrics 2001;139(4):588-90.
2001: Joly G; Lapierre J M; Ozilou C; Gosset P; Aurias A; de Blois M C; Prieur M; Raoul O; Colleaux L; Munnich A; Romana S; Vekemans M; Turleau C
Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype.
Clinical genetics 2001;60(3):212-9.
2001: Aradhya S; Woffendin H; Jakins T; Bardaro T; Esposito T; Smahi A; Shaw C; Levy M; Munnich A; D'Urso M; Lewis R A; Kenwrick S; Nelson D L
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: Chantrel-Groussard K; Geromel V; Puccio H; Koenig M; Munnich A; Rötig A; Rustin P
Disabled early recruitment of antioxidant defenses in Friedreich's ataxia.
Human molecular genetics 2001;10(19):2061-7.
2001: De Leersnyder H; de Blois M C; Vekemans M; Sidi D; Villain E; Kindermans C; Munnich A
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: de Lonlay P; Valnot I; Barrientos A; Gorbatyuk M; Tzagoloff A; Taanman J W; Benayoun E; Chrétien D; Kadhom N; Lombès A; de Baulny H O; Niaudet P; Munnich A; Rustin P; Rötig A
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: Amiel J; Bougeard G; Francannet C; Raclin V; Munnich A; Lyonnet S; Frebourg T
TP63 gene mutation in ADULT syndrome.
European journal of human genetics : EJHG 2001;9(8):642-5.
2001: Gerber S; Perrault I; Hanein S; Barbet F; Ducroq D; Ghazi I; Martin-Coignard D; Leowski C; Homfray T; Dufier J L; Munnich A; Kaplan J; Rozet J M
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: Geromel V; Kadhom N; Ceballos-Picot I; Chrétien D; Munnich A; Rötig A; Rustin P
Human cultured skin fibroblasts survive profound inherited ubiquinone depletion.
Free radical research 2001;35(1):11-21.
2001: Amiel J; Gigarel N; Benacki A; Benit P; Valnot I; Parfait B; Von Kleist-Retzow J C; Raclin V; Hadj-Rabia S; Dumez Y; Rustin P; Bonnefont J P; Munnich A; Rötig A
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
Prenatal diagnosis 2001;21(7):602-4.
2001: Faivre L; Cormier-Daire V; Geneviève D; Pinto G; Goulet O; Munnich A; Maroteaux P; Le Merrer M
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: De Leersnyder H; De Blois M C; Claustrat B; Romana S; Albrecht U; Von Kleist-Retzow J C; Delobel B; Viot G; Lyonnet S; Vekemans M; Munnich A
Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome.
The Journal of pediatrics 2001;139(1):111-6.
2001: Gauthier-Villars M; Landrieu P; Cormier-Daire V; Jacquemin E; Chrétien D; Rötig A; Rustin P; Munnich A; de Lonlay P
Respiratory chain deficiency in Alpers syndrome.
Neuropediatrics 2001;32(3):150-2.
2001: Rio M; Ozilou C; Cormier-Daire V; Turleau C; Prieur M; Vekemans M; Chauveau P; Munnich A; Colleaux L
Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.
Human genetics 2001;108(6):511-5.
2001: Bénit P; Chretien D; Kadhom N; de Lonlay-Debeney P; Cormier-Daire V; Cabral A; Peudenier S; Rustin P; Munnich A; Rötig A
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: Gedeon A K; Tiller G E; Le Merrer M; Heuertz S; Tranebjaerg L; Chitayat D; Robertson S; Glass I A; Savarirayan R; Cole W G; Rimoin D L; Kousseff B G; Ohashi H; Zabel B; Munnich A; Gecz J; Mulley J C
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
American journal of human genetics 2001;68(6):1386-97.
2001: Colleaux L; Rio M; Heuertz S; Moindrault S; Turleau C; Ozilou C; Gosset P; Raoult O; Lyonnet S; Cormier-Daire V; Amiel J; Le Merrer M; Picq M; de Blois M C; Prieur M; Romana S; Cornelis F; Vekemans M; Munnich A
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: Geromel V; Kadhom N; Cebalos-Picot I; Ouari O; Polidori A; Munnich A; Rötig A; Rustin P
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: Ray P F; Vekemans M; Munnich A
Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination.
Molecular human reproduction 2001;7(5):489-94.
2001: Rozet J M; Perrault I; Gerber S; Hanein S; Barbet F; Ducroq D; Souied E; Munnich A; Kaplan J
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: Saugier-Veber P; Drouot N; Lefebvre S; Charbonnier F; Vial E; Munnich A; Frébourg T
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: Bénit P; Bonnefont J P; Kara Mostefa A; Francannet C; Munnich A; Ray P F
Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis.
Prenatal diagnosis 2001;21(4):279-83.
2001: El Ghouzzi V; Legeai-Mallet L; Benoist-Lasselin C; Lajeunie E; Renier D; Munnich A; Bonaventure J
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: Döffinger R; Smahi A; Bessia C; Geissmann F; Feinberg J; Durandy A; Bodemer C; Kenwrick S; Dupuis-Girod S; Blanche S; Wood P; Rabia S H; Headon D J; Overbeek P A; Le Deist F; Holland S M; Belani K; Kumararatne D S; Fischer A; Shapiro R; Conley M E; Reimund E; Kalhoff H; Abinun M; Munnich A; Israël A; Courtois G; Casanova J L
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Nature genetics 2001;27(3):277-85.
2001: Faivre L; Nivelon-Chevallier A; Kottler M L; Robinet C; Khau Van Kien P; Lorcerie B; Munnich A; Maroteaux P; Cormier-Daire V; LeMerrer M
Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome.
American journal of medical genetics 2001;99(2):132-6.
2001: Amiel J; Attieé-Bitach T; Marianowski R; Cormier-Daire V; Abadie V; Bonnet D; Gonzales M; Chemouny S; Brunelle F; Munnich A; Manach Y; Lyonnet S
Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome.
American journal of medical genetics 2001;99(2):124-7.
2001: Imessaoudene B; Bonnefont J P; Royer G; Cormier-Daire V; Lyonnet S; Lyon G; Munnich A; Amiel J
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.
Journal of medical genetics 2001;38(3):171-4.
2001: Rötig A; Chantrel-Groussard K; Munnich A; Rustin P
Expression study of genes involved in iron metabolism in human tissues.
Biochemical and biophysical research communications 2001;281(3):804-9.
2001: Von Kleist-Retzow J C; Yao J; Taanman J W; Chantrel K; Chretien D; Cormier-Daire V; Rotig A; Munnich A; Rustin P; Shoubridge E A
Mutations in SURF1 are not specifically associated with Leigh syndrome.
Journal of medical genetics 2001;38(2):109-13.
2001: Amiel J; Faivre L; Marianowskl R; Bonnet D; Couly G; Manach Y; Le Merrer M; Cormier-Daire V; Munnich A; Lyonnet S
Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases.
Clinical dysmorphology 2001;10(1):15-8.
2001: Cormier-Daire V; Huber C; Munnich A
Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome).
American journal of medical genetics 2001;106(4):272-4.
2001: Munnich A; Rustin P
Clinical spectrum and diagnosis of mitochondrial disorders.
American journal of medical genetics 2001;106(1):4-17.
2000: Ray P F; Gigarel N; Bonnefont J P; Attié T; Hamamah S; Frydman N; Vekemans M; Frydman R; Munnich A
First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency.
Prenatal diagnosis 2000;20(13):1048-54.
2000: Faivre L; Prieur A M; Le Merrer M; Hayem F; Penet C; Woo P; Hofer M; Dagoneau N; Sermet I; Munnich A; Cormier-Daire V
Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
American journal of medical genetics 2000;95(3):233-6.
2000: Amiel J; Audollent S; Joly D; Dureau P; Salomon R; Tellier A L; Augé J; Bouissou F; Antignac C; Gubler M C; Eccles M R; Munnich A; Vekemans M; Lyonnet S; Attié-Bitach T
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.
European journal of human genetics : EJHG 2000;8(11):820-6.
2000: Tullio-Pelet A; Salomon R; Hadj-Rabia S; Mugnier C; de Laet M H; Chaouachi B; Bakiri F; Brottier P; Cattolico L; Penet C; Bégeot M; Naville D; Nicolino M; Chaussain J L; Weissenbach J; Munnich A; Lyonnet S
Mutant WD-repeat protein in triple-A syndrome.
Nature genetics 2000;26(3):332-5.
2000: Bénit P; Kara-Mostefa A; Berthelon M; Sengmany K; Munnich A; Bonnefont J P
Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography.
Human mutation 2000;16(5):417-21.
2000: Valnot I; Osmond S; Gigarel N; Mehaye B; Amiel J; Cormier-Daire V; Munnich A; Bonnefont J P; Rustin P; Rötig A
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: Cormier-Daire V; Dagoneau N; Nabbout R; Burglen L; Penet C; Soufflet C; Desguerre I; Munnich A; Dulac O
A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.
American journal of human genetics 2000;67(4):991-3.
2000: Gagnadoux M F; Attié T; Amiel J; Gigarel N; Bonnefont J P; Munnich A; Gubler M C; Antignac C
[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: Faivre L; Cormier-Daire V; Chrétien D; Christoph von Kleist-Retzow J; Amiel J; Dommergues M; Saudubray J M; Dumez Y; Rötig A; Rustin P; Munnich A
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency.
Prenatal diagnosis 2000;20(9):732-7.
2000: Aradhya S; Ahobila P; Lewis R A; Nelson D L; Esposito T; Ciccodicola A; Bardaro T; D'Urso M; Woffendin H; Kenwrick S; Smahi A; Heuertz S; Munnich A; Heiss N S; Poustka A; Chishti A H
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: Belinda A; Xavier C F; Saraiva J M; Le Merrer M; Dagoneau N; Huber C; Penet C; Munnich A; Cormier-Daire V
Genetic homogeneity of the Camurati-Engelmann disease.
Clinical genetics 2000;58(2):150-2.
2000: Hadj-Rabia S; Salomon R; Pelet A; Penet C; Rotschild A; de Laët M H; Chaouachi B; Hannachi R; Bakiri F; Brauner R; Chaussain J L; Munnich A; Lyonnet S
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: Perrault I; Rozet J M; Gerber S; Ghazi I; Ducroq D; Souied E; Leowski C; Bonnemaison M; Dufier J L; Munnich A; Kaplan J
Spectrum of retGC1 mutations in Leber's congenital amaurosis.
European journal of human genetics : EJHG 2000;8(8):578-82.
2000: Legeai-Mallet L; Rossi A; Benoist-Lasselin C; Piazza R; Mallet J F; Delezoide A L; Munnich A; Bonaventure J; Zylberberg L
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: Rötig A; Appelkvist E L; Geromel V; Chretien D; Kadhom N; Edery P; Lebideau M; Dallner G; Munnich A; Ernster L; Rustin P
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.
Lancet 2000;356(9227):391-5.
2000: Sanlaville D; Aubry M C; Dumez Y; Nolen M C; Amiel J; Pinson M P; Lyonnet S; Munnich A; Vekemans M; Morichon-Delvallez N
Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up.
Journal of medical genetics 2000;37(7):525-8.
2000: Cormier-Daire V; Chauvet M L; Lyonnet S; Briard M L; Munnich A; Le Merrer M
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: Tellier A L; Amiel J; Delezoide A L; Audollent S; Augé J; Esnault D; Encha-Razavi F; Munnich A; Lyonnet S; Vekemans M; Attié-Bitach T
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: Smahi A; Courtois G; Vabres P; Yamaoka S; Heuertz S; Munnich A; Israël A; Heiss N S; Klauck S M; Kioschis P; Wiemann S; Poustka A; Esposito T; Bardaro T; Gianfrancesco F; Ciccodicola A; D'Urso M; Woffendin H; Jakins T; Donnai D; Stewart H; Kenwrick S J; Aradhya S; Yamagata T; Levy M; Lewis R A; Nelson D L
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: Valnot I; von Kleist-Retzow J C; Barrientos A; Gorbatyuk M; Taanman J W; Mehaye B; Rustin P; Tzagoloff A; Munnich A; Rötig A
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.
Human molecular genetics 2000;9(8):1245-9.
2000: Touraine R L; Attié-Bitach T; Manceau E; Korsch E; Sarda P; Pingault V; Encha-Razavi F; Pelet A; Augé J; Nivelon-Chevallier A; Holschneider A M; Munnes M; Doerfler W; Goossens M; Munnich A; Vekemans M; Lyonnet S
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: Rustin P; von Kleist-Retzow J C; Vajo Z; Rotig A; Munnich A
For debate: defective mitochondria, free radicals, cell death, aging-reality or myth-ochondria?
Mechanisms of ageing and development 2000;114(3):201-6.
2000: Faivre L; Viot G; Prieur M; Turleau C; Gosset P; Romana S; Munnich A; Vekemans M; Cormier-Daire V
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: Rötig A; Valnot I; Mugnier C; Rustin P; Munnich A
Screening human EST database for identification of candidate genes in respiratory chain deficiency.
Molecular genetics and metabolism 2000;69(3):223-32.
2000: Aradhya S; Nelson D L; Heiss N S; Poustka A; Woffendin H; Kenwrick S; Esposito T; Ciccodicola A; Bardaro T; D'Urso M; Smahi A; Munnich A; Herman G E; Lewis R A
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: El Ghouzzi V; Legeai-Mallet L; Aresta S; Benoist C; Munnich A; de Gunzburg J; Bonaventure J
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location.
Human molecular genetics 2000;9(5):813-9.
2000: von Kleist-Retzow J C; Chantrel-Groussard K; Rötig A; Munnich A; Rustin P
[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: Parfait B; Chretien D; Rötig A; Marsac C; Munnich A; Rustin P
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: de Lonlay-Debeney P; von Kleist-Retzow J C; Hertz-Pannier L; Peudenier S; Cormier-Daire V; Berquin P; Chrétien D; Rötig A; Saudubray J M; Baraton J; Brunelle F; Rustin P; Van Der Knaap M; Munnich A
Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.
The Journal of pediatrics 2000;136(2):209-14.
2000: Faivre L; Radford I; Viot G; Edery P; Munnich A; Tardieu M; Vekemans M
Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q.
Annales de génétique 2000;43(1):35-8.
2000: Faivre L; Le Merrer M; Megarbane A; Gilbert B; Mortier G; Cusin V; Munnich A; Maroteaux P; Cormier-Daire V
Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.
Journal of medical genetics 2000;37(1):52-4.
2000: Amiel J; Salomon R; Attié-Bitach T; Touraine R; Steffann J; Pelet A; Nihoul-Fékété C; Vekemans M; Munnich A; Lyonnet S
[Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy]
Journal de la Société de biologie 2000;194(3-4):125-8.
1999: Cormier-Daire V; Belin V; Cusin V; Viot G; Girlich D; Toutain A; Moncla A; Vekemans M; Le Merrer M; Munnich A
SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.
Acta paediatrica (Oslo, Norway : 1992). Supplement 1999;88(433):55-9.
1999: Heiss N S; Poustka A; Knight S W; Aradhya S; Nelson D L; Lewis R A; Esposito T; Ciccodicola A; D'Urso M; Smahi A; Heuertz S; Munnich A; Vabres P; Woffendin H; Kenwrick S
Mutation analysis of the DKC1 gene in incontinentia pigmenti.
Journal of medical genetics 1999;36(11):860-2.
1999: Rozet J M; Gerber S; Souied E; Ducroq D; Perrault I; Ghazi I; Soubrane G; Coscas G; Dufier J L; Munnich A; Kaplan J
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: Perrault I; Rozet J M; Gerber S; Ghazi I; Leowski C; Ducroq D; Souied E; Dufier J L; Munnich A; Kaplan J
Leber congenital amaurosis.
Molecular genetics and metabolism 1999;68(2):200-8.
1999: Souied E H; Ducroq D; Rozet J M; Gerber S; Perrault I; Sterkers M; Benhamou N; Munnich A; Coscas G; Soubrane G; Kaplan J
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus.
Investigative ophthalmology & visual science 1999;40(11):2740-4.
1999: von Kleist-Retzow J C; Vial E; Chantrel-Groussard K; Rötig A; Munnich A; Rustin P; Taanman J W
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: Amiel J; de Lonlay P; Francannet C; Picard A; Bruel H; Rabier D; Le Merrer M; Verhoeven N; Jakobs C; Lyonnet S; Munnich A
Facial anomalies in D-2-hydroxyglutaric aciduria.
American journal of medical genetics 1999;86(2):124-9.
1999: Picard C; Couderc S; Skojaei T; Salomon R; de Lonlay P; Le Merrer M; Munnich A; Lyonnet S; Amiel J
Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement.
Clinical genetics 1999;56(2):170-2.
1999: Rustin P; von Kleist-Retzow J C; Chantrel-Groussard K; Sidi D; Munnich A; Rötig A
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study.
Lancet 1999;354(9177):477-9.
1999: Souied E H; Ducroq D; Gerber S; Ghazi I; Rozet J M; Perrault I; Munnich A; Dufier J L; Coscas G; Soubrane G; Kaplan J
Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study.
American journal of ophthalmology 1999;128(2):173-8.
1999: Amiel J; Cormier-Daire V; Journeau P; Mussat P; Munnich A; Lyonnet S
Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?
Journal of medical genetics 1999;36(7):561-4.
1999: Rozet J M; Gerber S; Ghazi I; Perrault I; Ducroq D; Souied E; Cabot A; Dufier J L; Munnich A; Kaplan J
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: Valnot I; Kassis J; Chretien D; de Lonlay P; Parfait B; Munnich A; Kachaner J; Rustin P; Rötig A
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: Kara-Mostefa A; Raoul O; Lyonnet S; Amiel J; Munnich A; Vekemans M; Magnier S; Ossareh B; Bonnefont J P
Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism.
American journal of human genetics 1999;64(5):1475-8.
1999: Bertrandy S; Burlet P; Clermont O; Huber C; Fondrat C; Thierry-Mieg D; Munnich A; Lefebvre S
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: Perrault I; Rozet J M; Ghazi I; Leowski C; Bonnemaison M; Gerber S; Ducroq D; Cabot A; Souied E; Dufier J L; Munnich A; Kaplan J
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
American journal of human genetics 1999;64(4):1225-8.
1999: Cabot A; Rozet J M; Gerber S; Perrault I; Ducroq D; Smahi A; Souied E; Munnich A; Kaplan J
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: Faivre L; Morichon-Delvallez N; Viot G; Larget-Piet A; Narcy F; Turleau C; Pinson M P; Dumez Y; Munnich A; Vekemans M
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: de Lonlay-Debeney P; Edery P; Cormier-Daire V; Parfait B; Chrétien D; Rötig A; Romero N; Saudubray J M; Munnich A; Rustin P
Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood.
Neuropediatrics 1999;30(1):42-4.
1999: Faivre L; Delezoide A L; Narcy F; Razavi F; Bouvier R; Cormier-Daire V; Briard M L; Lyonnet S; Vekemans M; Munnich A; Le Merrer M
A new lethal syndrome of exomphalos, short limbs, and macrogonadism.
Journal of medical genetics 1999;36(2):131-6.
1999: Baala L; Hadj Rabia S; Zlotogora J; Kabbaj K; Chhoul H; Munnich A; Lyonnet S; Sefiani A
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: Bodemer C; Rötig A; Rustin P; Cormier V; Niaudet P; Saudubray J M; Rabier D; Munnich A; de Prost Y
Hair and skin disorders as signs of mitochondrial disease.
Pediatrics 1999;103(2):428-33.
1999: El Ghouzzi V; Lajeunie E; Le Merrer M; Cormier-Daire V; Renier D; Munnich A; Bonaventure J
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: Faivre L; Morichon-Delvallez N; Viot G; Martinovic J; Pinson M P; Aubry J P; Raclin V; Edery P; Dumez Y; Munnich A; Vekemans M
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: Parfait B; de Lonlay P; von Kleist-Retzow J C; Cormier-Daire V; Chrétien D; Rötig A; Rabier D; Saudubray J M; Rustin P; Munnich A
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.
1999: Bénit P; Kara-Mostefa A; Hadj-Rabia S; Munnich A; Bonnefont J P
Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations.
Human mutation 1999;14(5):428-32.
1999: Rustin P; Munnich A; Rötig A
Quinone analogs prevent enzymes targeted in Friedreich ataxia from iron-induced injury in vitro.
BioFactors (Oxford, England) 1999;9(2-4):247-51.
1999: Lyonnet S; Morichon N; Dommergues M; Dumez Y; Briard M L; Vekemans M; Munnich A
[Contribution of genetics]
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1999;6 Suppl 2():246s-248s.
1998: Souied E H; Benlian P; Rozet J M; Gerber S; Lagarde J P; Coscas G; Soubrane G; Duffier J L; Munnich A; Kaplan J
Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa.
Vision research 1998;38(24):3829-31.
1998: Attié-Bitach T; Abitbol M; Gérard M; Delezoide A L; Augé J; Pelet A; Amiel J; Pachnis V; Munnich A; Lyonnet S; Vekemans M
Expression of the RET proto-oncogene in human embryos.
American journal of medical genetics 1998;80(5):481-6.
1998: Salomon R; Amiel J; Attié T; Pelet A; Munnich A; Lyonnet S
[From monogenic to polygenic: model of Hirschsprung disease]
Pathologie-biologie 1998;46(9):705-7.
1998: Iserin L; de Lonlay P; Viot G; Sidi D; Kachaner J; Munnich A; Lyonnet S; Vekemans M; Bonnet D
Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies.
European journal of pediatrics 1998;157(11):881-4.
1998: Burlet P; Huber C; Bertrandy S; Ludosky M A; Zwaenepoel I; Clermont O; Roume J; Delezoide A L; Cartaud J; Munnich A; Lefebvre S
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: de Lonlay-Debeney P; de Blois M C; Bonnet D; Amiel J; Abadie V; Picq M; Lyonnet S; Sidi D; Munnich A; Vekemans M; Cormier-Daire V
Ebstein anomaly associated with rearrangements of chromosomal region 11q.
American journal of medical genetics 1998;80(2):157-9.
1998: Faivre L; Morichon-Delvallez N; Viot G; Narcy F; Loison S; Mandelbrot L; Aubry M C; Raclin V; Edery P; Munnich A; Vekemans M
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: Roume J; Genin E; Cormier-Daire V; Ma H W; Mehaye B; Attie T; Razavi-Encha F; Fallet-Bianco C; Buenerd A; Clerget-Darpoux F; Munnich A; Le Merrer M
A gene for Meckel syndrome maps to chromosome 11q13.
American journal of human genetics 1998;63(4):1095-101.
1998: Vabres P; de Lonlay P; Amiel J; Lyonnet S; Munnich A; de Prost Y
[Angiomatous and cerulodermic macules: early cutaneous signs of neurofibromatosis type I]
Annales de dermatologie et de vénéréologie 1998;125(9):593-4.
1998: Delezoide A L; Benoist-Lasselin C; Legeai-Mallet L; Le Merrer M; Munnich A; Vekemans M; Bonaventure J
Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification.
Mechanisms of development 1998;77(1):19-30.
1998: Doray B; Salomon R; Amiel J; Pelet A; Touraine R; Billaud M; Attié T; Bachy B; Munnich A; Lyonnet S
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.
Human molecular genetics 1998;7(9):1449-52.
1998: Perrault I; Rozet J M; Gerber S; Kelsell R E; Souied E; Cabot A; Hunt D M; Munnich A; Kaplan J
A retGC-1 mutation in autosomal dominant cone-rod dystrophy.
American journal of human genetics 1998;63(2):651-4.
1998: von Kleist-Retzow J C; Cormier-Daire V; de Lonlay P; Parfait B; Chretien D; Rustin P; Feingold J; Rötig A; Munnich A
A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.
American journal of human genetics 1998;63(2):428-35.
1998: Rabier D; Diry C; Rotig A; Rustin P; Heron B; Bardet J; Parvy P; Ponsot G; Marsac C; Saudubray J M; Munnich A; Kamoun P
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
Journal of inherited metabolic disease 1998;21(3):216-9.
1998: Cormier-Daire V; Superti-Furga A; Munnich A; Lyonnet S; Rustin P; Delezoide A L; De Lonlay P; Giedion A; Maroteaux P; Le Merrer M
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: Collinet M; Berthelon M; Bénit P; Laborde K; Desbuquois B; Munnich A; Robert J J
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: Parfait B; Rustin P; Munnich A; Rötig A
Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations.
Biochemical and biophysical research communications 1998;247(1):57-9.
1998: Rozet J M; Gerber S; Souied E; Perrault I; Châtelin S; Ghazi I; Leowski C; Dufier J L; Munnich A; Kaplan J
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
European journal of human genetics : EJHG 1998;6(3):291-5.
1998: Bonnet D; de Lonlay P; Gautier I; Rustin P; Rötig A; Kachaner J; Acar P; LeBidois J; Munnich A; Sidi D
Efficiency of metabolic screening in childhood cardiomyopathies.
European heart journal 1998;19(5):790-3.
1998: Belin V; Cusin V; Viot G; Girlich D; Toutain A; Moncla A; Vekemans M; Le Merrer M; Munnich A; Cormier-Daire V
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
Nature genetics 1998;19(1):67-9.
1998: Legeai-Mallet L; Benoist-Lasselin C; Delezoide A L; Munnich A; Bonaventure J
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: Viot-Szoboszlai G; Amiel J; Doz F; Prieur M; Couturier J; Zucker J N; Henry I; Munnich A; Vekemans M; Lyonnet S
Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome.
Clinical genetics 1998;53(4):278-80.
1998: Tellier A L; Cormier-Daire V; Abadie V; Amiel J; Sigaudy S; Bonnet D; de Lonlay-Debeney P; Morrisseau-Durand M P; Hubert P; Michel J L; Jan D; Dollfus H; Baumann C; Labrune P; Lacombe D; Philip N; LeMerrer M; Briard M L; Munnich A; Lyonnet S
CHARGE syndrome: report of 47 cases and review.
American journal of medical genetics 1998;76(5):402-9.
1998: Perrault I; Châtelin S; Nancy V; Rozet J M; Gerber S; Ghazi I; Souied E; Dufier J L; Munnich A; de Gunzburg J; Kaplan J
Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosis.
Human genetics 1998;102(3):322-6.
1998: Pelet A; Geneste O; Edery P; Pasini A; Chappuis S; Atti T; Munnich A; Lenoir G; Lyonnet S; Billaud M
Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.
The Journal of clinical investigation 1998;101(6):1415-23.
1998: Amiel J; Salomon R; Attié T; Pelet A; Trang H; Mokhtari M; Gaultier C; Munnich A; Lyonnet S
Mutations of the RET-GDNF signaling pathway in Ondine's curse.
American journal of human genetics 1998;62(3):715-7.
1998: Chessa M; Butera G; Bonhoeffer P; Iserin L; Kachaner J; Lyonnet S; Munnich A; Sidi D; Bonnet D
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: Gerber S; Rozet J M; van de Pol T J; Hoyng C B; Munnich A; Blankenagel A; Kaplan J; Cremers F P
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: Chretien D; Gallego J; Barrientos A; Casademont J; Cardellach F; Munnich A; Rötig A; Rustin P
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: Rozet J M; Gerber S; Perrault I; Calvas P; Souied E; Châtelin S; Viegas-Péquignot; Molina-Gomez D; Munnich A; Kaplan J
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: Lefebvre S; Bürglen L; Frézal J; Munnich A; Melki J
The role of the SMN gene in proximal spinal muscular atrophy.
Human molecular genetics 1998;7(10):1531-6.
1998: Calvas P; Ségues B; Rozet J M; Rabier D; Bonnefond J P; Munnich A
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.
Human mutation 1998;Suppl 1():S81-4.
1997: Roume J; Ma H W; Le Merrer M; Cormier-Daire V; Girlich D; Genin E; Munnich A
Genetic heterogeneity of Meckel syndrome.
Journal of medical genetics 1997;34(12):1003-6.
1997: de Lonlay-Debeney P; Cormier-Daire V; Amiel J; Abadie V; Odent S; Paupe A; Couderc S; Tellier A L; Bonnet D; Prieur M; Vekemans M; Munnich A; Lyonnet S
Features of DiGeorge syndrome and CHARGE association in five patients.
Journal of medical genetics 1997;34(12):986-9.
1997: Parfait B; Percheron A; Chretien D; Rustin P; Munnich A; Rötig A
No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.
Human genetics 1997;101(2):247-50.
1997: Souied E; Segues B; Ghazi I; Rozet J M; Chatelin S; Gerber S; Perrault I; Michel-Awad A; Briard M L; Plessis G; Dufier J L; Munnich A; Kaplan J
Severe manifestations in carrier females in X linked retinitis pigmentosa.
Journal of medical genetics 1997;34(10):793-7.
1997: Rötig A; de Lonlay P; Chretien D; Foury F; Koenig M; Sidi D; Munnich A; Rustin P
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
Nature genetics 1997;17(2):215-7.
1997: Delezoide A L; Lasselin-Benoist C; Legeai-Mallet L; Brice P; Senée V; Yayon A; Munnich A; Vekemans M; Bonaventure J
Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses.
Human molecular genetics 1997;6(11):1899-906.
1997: Rustin P; Chretien D; Parfait B; Rötig A; Munnich A
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: Rustin P; Bourgeron T; Parfait B; Chretien D; Munnich A; Rötig A
Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human.
Biochimica et biophysica acta 1997;1361(2):185-97.
1997: Bidaud C; Salomon R; Van Camp G; Pelet A; Attié T; Eng C; Bonduelle M; Amiel J; Nihoul-Fékété C; Willems P J; Munnich A; Lyonnet S
Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.
European journal of human genetics : EJHG 1997;5(4):247-51.
1997: Rötig A; Parfait B; Heidet L; Dujardin G; Rustin P; Munnich A
Sequence and structure of the human OXA1L gene and its upstream elements.
Biochimica et biophysica acta 1997;1361(1):6-10.
1997: Geromel V; Parfait B; von Kleist-Retzow J C; Chretien D; Munnich A; Rötig A; Rustin P
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: Lefebvre S; Burlet P; Liu Q; Bertrandy S; Clermont O; Munnich A; Dreyfuss G; Melki J
Correlation between severity and SMN protein level in spinal muscular atrophy.
Nature genetics 1997;16(3):265-9.
1997: Hanash A; Leguern E; Birouk N; Clermont O; Pouget J; Bouche P; Munnich A; Brice A; Melki J
SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.
Journal of medical genetics 1997;34(6):507-8.
1997: Edery P; Eng C; Munnich A; Lyonnet S
RET in human development and oncogenesis.
BioEssays : news and reviews in molecular, cellular and developmental biology 1997;19(5):389-95.
1997: Cormier-Daire V; Le Merrer M; Gigarel N; Morichon N; Prieur M; Lyonnet S; Vekemans M; Munnich A
Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome.
American journal of medical genetics 1997;69(2):166-8.
1997: Legeai-Mallet L; Margaritte-Jeannin P; Lemdani M; Le Merrer M; Plauchu H; Maroteaux P; Munnich A; Clerget-Darpoux F
An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses.
Human genetics 1997;99(3):298-302.
1997: Viollet L; Bertrandy S; Bueno Brunialti A L; Lefebvre S; Burlet P; Clermont O; Cruaud C; Guénet J L; Munnich A; Melki J
cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn).
Genomics 1997;40(1):185-8.
1997: Raclin V; Veber P S; Bürglen L; Munnich A; Melki J
De novo deletions in spinal muscular atrophy: implications for genetic counselling.
Journal of medical genetics 1997;34(1):86-7.
1997: Bonnet D; Cormier-Daire V; Kachaner J; Szezepanski I; Souillard P; Sidi D; Munnich A; Lyonnet S
Microsatellite DNA markers detects 95% of chromosome 22q11 deletions.
American journal of medical genetics 1997;68(2):182-4.
1997: Lévy G; Levi-Acobas F; Blanchard S; Gerber S; Larget-Piet D; Chenal V; Liu X Z; Newton V; Steel K P; Brown S D; Munnich A; Kaplan J; Petit C; Weil D
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.
Human molecular genetics 1997;6(1):111-6.
1997: Chaïb H; Kaplan J; Gerber S; Vincent C; Ayadi H; Slim R; Munnich A; Weissenbach J; Petit C
A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.
Human molecular genetics 1997;6(1):27-31.
1997: Bürglen L; Seroz T; Miniou P; Lefebvre S; Burlet P; Munnich A; Pequignot E V; Egly J M; Melki J
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.
1997: Bidaud C; Salomon R; Edery P; Van Camp G; Pelet A; Bonduelle M; Nihoul-Fékété C; Willems P J; Munnich A; Lyonnet S
[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: Ershova G; Derré J; Chételin S; Nancy V; Berger R; Kaplan J; Munnich A; de Gunzburg J
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: Bonnefont J P; Thuillier L; Gigarel N; Rochette C; Briard M L; Munnich A
Prenatal diagnosis of cystic fibrosis.
Pediatric pulmonology. Supplement 1997;16():63-4.
1997: Rötig A; Bonnefont J P; Munnich A
[Mitochondrial diabetes]
Journées annuelles de diabétologie de l'Hôtel-Dieu 1997;():33-42.
1997: Munnich A
[Respiratory chain and mitochondrial DNA]
Journées annuelles de diabétologie de l'Hôtel-Dieu 1997;():1-15.
1997: Bonaventure J; Rousseau F; Legeai-Mallet L; Benoist-Lasselin C; Le Merrer M; Munnich A
[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.
1996: Tellier A L; Lyonnet S; Cormier-Daire V; de Lonlay P; Abadie V; Baumann C; Bonneau D; Labrune P; Lacombe D; Le Merrer M; Nivelon A; Philip N; Briard M L; Munnich A
Increased paternal age in CHARGE association.
Clinical genetics 1996;50(6):548-50.
1996: Cormier-Daire V; Rustin P; Rötig A; Chrétien D; Le Merrer M; Belli D; Le Goff A; Hubert P; Ricour C; Munnich A
Craniofacial anomalies and malformations in respiratory chain deficiency.
American journal of medical genetics 1996;66(4):457-63.
1996: Bahuau M; Flintoff W; Assouline B; Lyonnet S; Le Merrer M; Prieur M; Guilloud-Bataille M; Feingold N; Munnich A; Vidaud M; Vidaud D
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: Perrault I; Rozet J M; Calvas P; Gerber S; Camuzat A; Dollfus H; Châtelin S; Souied E; Ghazi I; Leowski C; Bonnemaison M; Le Paslier D; Frézal J; Dufier J L; Pittler S; Munnich A; Kaplan J
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
Nature genetics 1996;14(4):461-4.
1996: Salomon R; Attié T; Pelet A; Bidaud C; Eng C; Amiel J; Sarnacki S; Goulet O; Ricour C; Nihoul-Fékété C; Munnich A; Lyonnet S
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.
Nature genetics 1996;14(3):345-7.
1996: Bonaventure J; Rousseau F; Legeai-Mallet L; Le Merrer M; Munnich A; Maroteaux P
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: Rötig A; Bonnefont J P; Munnich A
Mitochondrial diabetes mellitus.
Diabetes & metabolism 1996;22(5):291-8.
1996: Rozet J M; Gerber S; Perrault I; Camuzat A; Calvas P; Viegas-Pequignot E; Molina-Gomes D; Le Paslier D; Chumakov I; Munnich A; Kaplan J
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: Rousseau F; Bonaventure J; Legeai-Mallet L; Schmidt H; Weissenbach J; Maroteaux P; Munnich A; Le Merrer M
Clinical and genetic heterogeneity of hypochondroplasia.
Journal of medical genetics 1996;33(9):749-52.
1996: Bürglen L; Amiel J; Viollet L; Lefebvre S; Burlet P; Clermont O; Raclin V; Landrieu P; Verloes A; Munnich A; Melki J
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: Cormier-Daire V; Wolf C; Munnich A; Le Merrer M; Nivelon A; Bonneau D; Journel H; Fellmann F; Chevy F; Roux C
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes.
European journal of pediatrics 1996;155(8):656-9.
1996: Ma H W; Lajeunie E; de Parseval N; Munnich A; Renier D; Le Merrer M
Possible genetic heterogeneity in the Saethre-Chotzen syndrome.
Human genetics 1996;98(2):228-32.
1996: Rustin P; Parfait B; Chretien D; Bourgeron T; Djouadi F; Bastin J; Rötig A; Munnich A
Fluxes of nicotinamide adenine dinucleotides through mitochondrial membranes in human cultured cells.
The Journal of biological chemistry 1996;271(25):14785-90.
1996: Camuzat A; Rozet J M; Dollfus H; Gerber S; Perrault I; Weissenbach J; Munnich A; Kaplan J
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: Bonaventure J; Rousseau F; Legeai-Mallet L; Le Merrer M; Munnich A; Maroteaux P
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: Rousseau F; el Ghouzzi V; Delezoide A L; Legeai-Mallet L; Le Merrer M; Munnich A; Bonaventure J
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
Human molecular genetics 1996;5(4):509-12.
1996: Burlet P; Bürglen L; Clermont O; Lefebvre S; Viollet L; Munnich A; Melki J
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
Journal of medical genetics 1996;33(4):281-3.
1996: Edery P; Attié T; Amiel J; Pelet A; Eng C; Hofstra R M; Martelli H; Bidaud C; Munnich A; Lyonnet S
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
Nature genetics 1996;12(4):442-4.
1996: Amiel J; Attié T; Jan D; Pelet A; Edery P; Bidaud C; Lacombe D; Tam P; Simeoni J; Flori E; Nihoul-Fékété C; Munnich A; Lyonnet S
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.
Human molecular genetics 1996;5(3):355-7.
1996: Bürglen L; Lefebvre S; Clermont O; Burlet P; Viollet L; Cruaud C; Munnich A; Melki J
Structure and organization of the human survival motor neurone (SMN) gene.
Genomics 1996;32(3):479-82.
1996: Birch-Machin M A; Marsac C; Ponsot G; Parfait B; Taylor R W; Rustin P; Munnich A
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: Gerber S; Larget-Piet D; Rozet J M; Bonneau D; Mathieu M; Der Kaloustian V; Munnich A; Kaplan J
Evidence for a fourth locus in Usher syndrome type I.
Journal of medical genetics 1996;33(1):77-9.
1996: Attié T; Salomon R; Amiel J; Edery P; Pelet A; Nihoul-Fékété C; Munnich A; Lyonnet S
[Genetics of Hirschsprung disease]
Comptes rendus des séances de la Société de biologie et de ses filiales 1996;190(5-6):549-56.
1996: Attié T; Amiel J; Jan D; Edery P; Pelet A; Salomon R; Munnich A; Lyonnet S; Nihoul-Fékété C
[Genetics of Hirschsprung disease]
Annales de chirurgie 1996;50(7):538-41.
1996: Ségues B; Veber P S; Rabier D; Calvas P; Saudubray J M; Gilbert-Dussardier B; Bonnefont J P; Munnich A
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: Poggi-Travert F; Martin D; Billette de Villemeur T; Bonnefont J P; Vassault A; Rabier D; Charpentier C; Kamoun P; Munnich A; Saudubray J M
Metabolic intermediates in lactic acidosis: compounds, samples and interpretation.
Journal of inherited metabolic disease 1996;19(4):478-88.
1996: Gilbert-Dussardier B; Segues B; Rozet J M; Rabier D; Calvas P; de Lumley L; Bonnefond J P; Munnich A
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: Billette de Villemeur T; de Lonlay P; Poggi-Travert F; Martin D; Launay J M; Munnich A; Saudubray J M
[Monoamine decarboxylase deficiency]
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1996;3 Suppl 1():167s-168s.
1996: Rousseau F; Bonaventure J; Legeai-Mallet L; Pelet A; Rozet J M; Maroteaux P; Le Merrer M; Munnich A
Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.
Hormone research 1996;45(1-2):108-10.
1996: Souied E; Rozet J M; Gerber S; Munnich A; Kaplan J
[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: Bonneau D; Souied E; Gerber S; Rozet J M; D'Haens E; Journel H; Plessis G; Weissenbach J; Munnich A; Kaplan J
No evidence of genetic heterogeneity in dominant optic atrophy.
Journal of medical genetics 1995;32(12):951-3.
1995: Attié T; Till M; Pelet A; Amiel J; Edery P; Boutrand L; Munnich A; Lyonnet S
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.
Human molecular genetics 1995;4(12):2407-9.
1995: Clermont O; Burlet P; Lefebvre S; Bürglen L; Munnich A; Melki J
SMN gene deletions in adult-onset spinal muscular atrophy.
Lancet 1995;346(8991-8992):1712-3.
1995: Ma H W; Lajeunie E; Le Merrer M; de Parseval N; Serville F; Weissenbach J; Munnich A; Renier D
No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis.
Human genetics 1995;96(6):731-5.
1995: Héron D; Lyonnet S; Iserin L; Munnich A; Padovani J P
Sternal cleft: case report and review of a series of nine patients.
American journal of medical genetics 1995;59(2):154-6.
1995: Bussaglia E; Clermont O; Tizzano E; Lefebvre S; Bürglen L; Cruaud C; Urtizberea J A; Colomer J; Munnich A; Baiget M
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.
Nature genetics 1995;11(3):335-7.
1995: Bourgeron T; Rustin P; Chretien D; Birch-Machin M; Bourgeois M; Viegas-Péquignot E; Munnich A; Rötig A
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.
Nature genetics 1995;11(2):144-9.
1995: Chretien D; Pourrier M; Bourgeron T; Séné M; Rötig A; Munnich A; Rustin P
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: Attié T; Pelet A; Edery P; Eng C; Mulligan L M; Amiel J; Boutrand L; Beldjord C; Nihoul-Fékété C; Munnich A
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
Human molecular genetics 1995;4(8):1381-6.
1995: Rötig A; Bourgeron T; Chretien D; Rustin P; Munnich A
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.
Human molecular genetics 1995;4(8):1327-30.
1995: Héron D; Billette de Villemeur T; Munnich A; Lyonnet S
Filippi syndrome: a new case with skeletal abnormalities.
Journal of medical genetics 1995;32(8):659-61.
1995: Bürglen L; Spiegel R; Ignatius J; Cobben J M; Landrieu P; Lefebvre S; Munnich A; Melki J
SMN gene deletion in variant of infantile spinal muscular atrophy.
Lancet 1995;346(8970):316-7.
1995: Bürglen L; Frézal J; Munnich A; Melki J
[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: Rousseau F; Saugier P; Le Merrer M; Munnich A; Delezoide A L; Maroteaux P; Bonaventure J; Narcy F; Sanak M
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
Nature genetics 1995;10(1):11-2.
1995: Cormier-Daire V; Lyonnet S; Lehnert A; Martin D; Salomon R; Patey N; Broyer M; Ricour C; Munnich A
Craniosynostosis and kidney malformation in a case of Hennekam syndrome.
American journal of medical genetics 1995;57(1):66-8.
1995: Gerber S; Rozet J M; Bonneau D; Souied E; Weissenbach J; Frezal J; Munnich A; Kaplan J
Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease.
Human genetics 1995;95(4):382-4.
1995: Rötig A; Goutières F; Niaudet P; Rustin P; Chretien D; Guest G; Mikol J; Gubler M C; Munnich A
Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis.
The Journal of pediatrics 1995;126(4):597-601.
1995: Attié T; Till M; Pelet A; Edery P; Bonnet J P; Munnich A; Lyonnet S
Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.
Journal of medical genetics 1995;32(4):312-3.
1995: Cormier-Daire V; Iserin L; Théophile D; Sidi D; Vervel C; Padovani J P; Vekemans M; Munnich A; Lyonnet S
Upper limb malformations in DiGeorge syndrome.
American journal of medical genetics 1995;56(1):39-41.
1995: Souied E; Amalric P; Chauvet M L; Chevallier C; Le Hoang P; Munnich A; Kaplan J
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: Gerber S; Rozet J M; Bonneau D; Souied E; Camuzat A; Dufier J L; Amalric P; Weissenbach J; Munnich A; Kaplan J
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: Lajeunie E; Ma H W; Bonaventure J; Munnich A; Le Merrer M; Renier D
FGFR2 mutations in Pfeiffer syndrome.
Nature genetics 1995;9(2):108.
1995: Saugier-Veber P; Munnich A; Lyonnet S; Toutain A; Moraine C; Piussan C; Mathieu M; Gibbons R J
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?
American journal of medical genetics 1995;55(3):300-1.
1995: Kamoun P; Fensom A H; Shin Y S; Bakker E; Colombo J P; Munnich A; Bird S; Canini S; Huijmans J G; Chadefaux-Vekemans B
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.
American journal of medical genetics 1995;55(2):247-50.
1995: Rötig A; Bourgeron T; Rustin P; Munnich A
Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome.
Muscle & nerve 1995;3():S159-64.
1994: Pelet A; Attie T; Goulet O; Eng C; Ponder B A; Munnich A; Lyonnet S
De-novo mutations of the RET proto-oncogene in Hirschsprung's disease.
Lancet 1994;344(8939-8940):1769-70.
1994: Labrune P; Myara A; Hadchouel M; Ronchi F; Bernard O; Trivin F; Chowdhury N R; Chowdhury J R; Munnich A; Odièvre M
Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.
Human genetics 1994;94(6):693-7.
1994: Edery P; Attié T; Mulligan L M; Pelet A; Eng C; Ponder B A; Munnich A; Lyonnet S
A novel polymorphism in the coding sequence of the human RET proto-oncogene.
Human genetics 1994;94(5):579-80.
1994: Rousseau F; Bonaventure J; Legeai-Mallet L; Pelet A; Rozet J M; Maroteaux P; Le Merrer M; Munnich A
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
Nature 1994;371(6494):252-4.
1994: Attie T; Pelet A; Sarda P; Eng C; Edery P; Mulligan L M; Ponder B A; Munnich A; Lyonnet S
A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease.
Human molecular genetics 1994;3(8):1439-40.
1994: Souied E; Gerber S; Rozet J M; Bonneau D; Dufier J L; Ghazi I; Philip N; Soubrane G; Coscas G; Munnich A
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
Human molecular genetics 1994;3(8):1433-4.
1994: Edery P; Manach Y; Le Merrer M; Till M; Vignal A; Lyonnet S; Munnich A
Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome.
American journal of medical genetics 1994;52(2):174-7.
1994: Chretien D; Rustin P; Bourgeron T; Rötig A; Saudubray J M; Munnich A
Reference charts for respiratory chain activities in human tissues.
Clinica chimica acta; international journal of clinical chemistry 1994;228(1):53-70.
1994: Rustin P; Chretien D; Bourgeron T; Gérard B; Rötig A; Saudubray J M; Munnich A
Biochemical and molecular investigations in respiratory chain deficiencies.
Clinica chimica acta; international journal of clinical chemistry 1994;228(1):35-51.
1994: Rozet J M; Gerber S; Bonneau D; Munnich A; Kaplan J
DsaI polymorphism at the human cone transducin alpha-subunit (GNAT2) detected by PCR.
Human molecular genetics 1994;3(6):1030.
1994: Gilbert-Dussardier B; Rabier D; Strautnieks S; Segues B; Bonnefont J P; Munnich A
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: Le Merrer M; Legeai-Mallet L; Jeannin P M; Horsthemke B; Schinzel A; Plauchu H; Toutain A; Achard F; Munnich A; Maroteaux P
A gene for hereditary multiple exostoses maps to chromosome 19p.
Human molecular genetics 1994;3(5):717-22.
1994: Bénit P; Rey F; Melle D; Munnich A; Rey J
Novel frame shift deletions of the phenylalanine hydroxylase gene in phenylketonuria.
Human molecular genetics 1994;3(4):675-6.
1994: Niaudet P; Heidet L; Munnich A; Schmitz J; Bouissou F; Gubler M C; Rötig A
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: Lyonnet S; Edery P; Mulligan L M; Pelet A; Dow E; Abel L; Holder S; Nihoul-Fékéte C; Ponder B A; Munnich A
[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: Edery P; Gérard B; Chretien D; Rötig A; Cerrone R; Rabier D; Rambaud C; Fabre M; Saudubray J M; Munnich A
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure.
European journal of pediatrics 1994;153(3):190-4.
1994: Le Merrer M; Rousseau F; Legeai-Mallet L; Landais J C; Pelet A; Bonaventure J; Sanak M; Weissenbach J; Stoll C; Munnich A
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.
Nature genetics 1994;6(3):318-21.
1994: Saugier-Veber P; Munnich A; Bonneau D; Rozet J M; Le Merrer M; Gil R; Boespflug-Tanguy O
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
Nature genetics 1994;6(3):257-62.
1994: Rustin P; Lebidois J; Chretien D; Bourgeron T; Piechaud J F; Rötig A; Munnich A; Sidi D
Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies.
The Journal of pediatrics 1994;124(2):224-8.
1994: Edery P; Lyonnet S; Mulligan L M; Pelet A; Dow E; Abel L; Holder S; Nihoul-Fékété C; Ponder B A; Munnich A
Mutations of the RET proto-oncogene in Hirschsprung's disease.
Nature 1994;367(6461):378-80.
1994: Bénit P; Rey F; Melle D; Munnich A; Rey J
Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.
Human mutation 1994;4(3):229-31.
1994: Attié T; Edery P; Lyonnet S; Nihoul-Fékété C; Munnich A
[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: Larget-Piet D; Rozet J M; Gerber S; Dollfus H; Munnich A; Kaplan J
Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus.
Human molecular genetics 1993;2(12):2201.
1993: Hazan J; Lamy C; Melki J; Munnich A; de Recondo J; Weissenbach J
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.
Nature genetics 1993;5(2):163-7.
1993: Bourgeron T; Chretien D; Rötig A; Munnich A; Rustin P
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: Bourgeron T; Chretien D; Amati P; Rötig A; Munnich A; Rustin P
Expression of respiratory chain deficiencies in human cultured cells.
Neuromuscular disorders : NMD 1993;3(5-6):605-8.
1993: Dollfus H; Mattei M G; Rozet J M; Delrieu O; Munnich A; Kaplan J
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: Burlet P; Abdelhak S; Pascal F; Clermont O; Paul B; Munnich A; Melki J
Trinucleotide repeat polymorphism at the D5S556 locus.
Human molecular genetics 1993;2(8):1328.
1993: Rustin P; Chretien D; Bourgeron T; LeBidois J; Sidi D; Rötig A; Munnich A
Investigation of respiratory chain activity in human heart.
Biochemical medicine and metabolic biology 1993;50(1):120-6.
1993: Dollfus H; Rozet J M; Musarella M A; Kaplan J; Munnich A
Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p.
Human molecular genetics 1993;2(7):1081.
1993: Flintoff W F; Bahuau M; Lyonnet S; Gilgenkrantz S; Lacombe D; Marçon F; Levilliers J; Kachaner J; Munnich A; Le Merrer M
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: Saugier-Veber P; Abadie V; Moncla A; Mathieu M; Piussan C; Turleau C; Mattei J F; Munnich A; Lyonnet S
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: Serville F; Benit P; Saugier P; Vibert M; Royer G; Pelet A; Chery M; Munnich A; Lyonnet S
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: Rötig A; Cormier V; Chatelain P; Francois R; Saudubray J M; Rustin P; Munnich A
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: Gérard B; Bourgeron T; Chretien D; Rötig A; Munnich A; Rustin P
Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts.
European journal of pediatrics 1993;152(3):270.
1993: Abadie V; Jaruzelska J; Lyonnet S; Millasseau P; Berthelon M; Rey F; Munnich A; Rey J
Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.
Human molecular genetics 1993;2(1):31-4.
1993: Rustin P; Lebidois J; Chretien D; Bourgeron T; Piechaud J F; Rötig A; Sidi D; Munnich A
The investigation of respiratory chain disorders in heart using endomyocardial biopsies.
Journal of inherited metabolic disease 1993;16(3):541-4.
1993: Rötig A; Cormier V; Chatelain P; Francois R; Saudubray J M; Rustin P; Munnich A
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: Le Merrer M; Ben Othmane K; Stanescu V; Lyonnet S; Van Maldergem L; Royer G; Munnich A; Maroteaux P
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: Rey F; Abadie V; Lyonnet S; Berthelon M; Caillaud C; Melle D; Labrune P; Saudubray J M; Munnich A; Rey J
[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene]
Archives françaises de pédiatrie 1992;49(8):705-10.
1992: Bonnefont J P; Chretien D; Rustin P; Robinson B; Vassault A; Aupetit J; Charpentier C; Rabier D; Saudubray J M; Munnich A
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.
The Journal of pediatrics 1992;121(2):255-8.
1992: Serville F; Lyonnet S; Pelet A; Reynaud M; Louail C; Munnich A; Le Merrer M
X-linked hydrocephalus: clinical heterogeneity at a single gene locus.
European journal of pediatrics 1992;151(7):515-8.
1992: Feldmann D; Rozet J M; Pelet A; Hentzen D; Briand P; Hubert P; Largilliere C; Rabier D; Farriaux J P; Munnich A
Site specific screening for point mutations in ornithine transcarbamylase deficiency.
Journal of medical genetics 1992;29(7):471-5.
1992: Bourgeron T; Chretien D; Rötig A; Munnich A; Rustin P
Isolation and characterization of mitochondria from human B lymphoblastoid cell lines.
Biochemical and biophysical research communications 1992;186(1):16-23.
1992: Bourgeron T; Chrétien D; Rötig A; Munnich A; Rustin P
Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous.
Prenatal diagnosis 1992;12(6):548-9.
1992: Sidi D; Le Bidois J; Piéchaud J F; Da Cruz E; Marchal C; Gournay V; Kachaner J; Rustin P; Chrétien D; Munnich A
[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: Rötig A; Bessis J L; Romero N; Cormier V; Saudubray J M; Narcy P; Lenoir G; Rustin P; Munnich A
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: Hentati A; Lamy C; Melki J; Zuber M; Munnich A; de Recondo J
Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease.
Genomics 1992;12(1):155-7.
1992: Lyonnet S; Schwartz G; Gatin G; de Prost Y; Munnich A; Le Merrer M
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: Munnich A; Rustin P; Rötig A; Chretien D; Bonnefont J P; Nuttin C; Cormier V; Vassault A; Parvy P; Bardet J
Clinical aspects of mitochondrial disorders.
Journal of inherited metabolic disease 1992;15(4):448-55.
1992: Saudubray J M; Mitchell G; Bonnefont J P; Schwartz G; Nuttin C; Munnich A; Brivet M; Vassault A; Demaugre F; Rabier D
Approach to the patient with a fatty acid oxidation disorder.
Progress in clinical and biological research 1992;375():271-88.
1991: Hentzen D; Pelet A; Feldman D; Rabier D; Berthelot J; Munnich A
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: Labrune P; Melle D; Rey F; Berthelon M; Caillaud C; Rey J; Munnich A; Lyonnet S
Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.
American journal of human genetics 1991;48(6):1115-20.
1991: Rötig A; Cormier V; Koll F; Mize C E; Saudubray J M; Veerman A; Pearson H A; Munnich A
Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.
Genomics 1991;10(2):502-4.
1991: Kaplan J; Pelet A; Hentati H; Jeanpierre M; Briard M L; Journel H; Munnich A; Dufier J L
Contribution to carrier detection and genetic counselling in X linked retinoschisis.
Journal of medical genetics 1991;28(6):383-8.
1991: Caillaud C; Lyonnet S; Rey F; Melle D; Frebourg T; Berthelon M; Vilarinho L; Vaz Osorio R; Rey J; Munnich A
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: Sheth P; Abdelhak S; Bachelot M F; Burlet P; Masset M; Hillaire D; Clerget-Darpoux F; Frézal J; Lathrop G M; Munnich A
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: Cormier V; Rotig A; Tardieu M; Colonna M; Saudubray J M; Munnich A
Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.
American journal of human genetics 1991;48(4):643-8.
1991: Melle D; Verelst P; Rey F; Berthelon M; François B; Munnich A; Lyonnet S
Two distinct mutations at a single BamHI site in phenylketonuria.
Journal of medical genetics 1991;28(1):38-40.
1991: Mattei M G; Melki J; Bachelot M F; Abdelhak S; Burlet P; Frézal J; Munnich A
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.
1990: Bonnefont J P; Specola N B; Vassault A; Lombes A; Ogier H; de Klerk J B; Munnich A; Coude M; Paturneau-Jouas M; Saudubray J M
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: Abdelhak S; Melki J; Bachelot M F; Burlet P; Sheth P; Frézal J; Munnich A
A PstI polymorphism at the D5S39 locus.
Nucleic acids research 1990;18(18):5580.
1990: Melki J; Sheth P; Abdelhak S; Burlet P; Bachelot M F; Lathrop M G; Frezal J; Munnich A
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: Michel-Awad A; Kaplan J; Briard M L; Turleau C; de Grouchy J; Munnich A; Dufier J L; Frezal J
[Prenatal diagnosis of various hereditary blinding diseases]
Ophtalmologie : organe de la Société française d'ophtalmologie 1990;4(3):237-9.
1990: Pelet A; Rotig A; Bonaïti-Pellié C; Rabier D; Cormier V; Toumas E; Hentzen D; Saudubray J M; Munnich A
Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.
Human genetics 1990;84(2):167-71.
1990: Bonaïti-Pellié C; Pelet A; Ogier H; Nelson J R; Largillière C; Berthelot J; Saudubray J M; Munnich A
A probable sex difference in mutation rates in ornithine transcarbamylase deficiency.
Human genetics 1990;84(2):163-6.
1990: Kaplan J; Guasconi G; Dufier J L; Michel-Awad A; David A; Munnich A; Frezal J
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: Kaplan J; Guasconi G; Bonneau D; Melki J; Briard M L; Munnich A; Dufier J L; Frézal J
Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity.
Annales de génétique 1990;33(2):105-8.
1989: Saudubray J M; Lyonnet S; Lombes A; Hervé F; Bonnefont J P; Munnich A; Ogier H
[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: Abadie V; Lyonnet S; Maurin N; Berthelon M; Caillaud C; Giraud F; Mattei J F; Rey J; Rey F; Munnich A
CpG dinucleotides are mutation hot spots in phenylketonuria.
Genomics 1989;5(4):936-9.
1989: García Silva M T; Bonnefont J P; Rotig A; Romero N; Vassault A; Colonna M; Coude M; Rabier D; Munnich A; Fardeau M
[Respiratory chain diseases in infancy. Clinical presentation and diagnosis]
Anales españoles de pediatría 1989;31(5):421-30.
1989: Lyonnet S; Caillaud C; Rey F; Berthelon M; Frézal J; Rey J; Munnich A
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: Saudubray J M; Ogier H; Bonnefont J P; Munnich A; Lombes A; Hervé F; Mitchel G; Thé B P; Specola N; Parvy P
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: Rey F; Berthelon M; Caillaud C; Lyonnet S; Abadie V; Blandin-Savoja F; Feingold J; Saudubray J M; Frézal J; Munnich A
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.
American journal of human genetics 1988;43(6):914-21.
1988: Lyonnet S; Caillaud C; Rey F; Berthelon M; Frezal J; Rey J; Munnich A
Guthrie cards for detection of point mutations in phenylketonuria.
Lancet 1988;2(8609):507.
1988: Lyonnet S; Coupé C; Girard J; Kahn A; Munnich A
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: Pelet A; Toumas E; Rabier D; Kaplan J; Kamoun P; Frezal J; Saudubray J M; Munnich A
[Genetic counseling in ornithine carbamoyltransferase deficiency]
Annales de biologie clinique 1988;46(7):455-9.
1987: Munnich A; Lyonnet S; Chauvet D; Van Schaftingen E; Kahn A
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: Lombes A; Ogier H; Bonnefont J P; Munnich A; Saudubray J M
[Research methods in metabolic myopathies in children]
Annales de médecine interne 1987;138(6):441-3.

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