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Jean-Paul Bonnefont

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Orianne Philippe; Marlène Rio; Vassili Valayannopoulos; Hilde Van Esch; Jeanne Amiel; Nadia Bahi-Buisson; Geneviève Baujat; Nathalie Boddaert; Jean-Paul Bonnefont; Guy Froyen; Roseline Gesny; valerie malan; Arnold Munnich; Laurence Colleaux
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
Hussein Mouawia; Ali Saker; Joe Leigh Simpson; alexandra benachi; Jean-Paul Bonnefont; Laurence Bussières; René Frydman; Jean-Philippe jais; Bernard Lacour; Patrizia Paterlini-Brechot
Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy.
Nathalie Delphin; Sylvain Hanein; Josseline Kaplan; Jean-Paul Moisan; Arnold Munnich; Patrick Nitschke; Solenn Pruvost; Olivier Roche; Dominique Bonneau; Jean-Paul Bonnefont; Christine Boyle; Lucas Fares Taie; Xavier Zanlonghi; Jean-Michel Rozet
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

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All Publications

2013: Orianne Philippe; Marlène Rio; Vassili Valayannopoulos; Hilde Van Esch; Jeanne Amiel; Nadia Bahi-Buisson; Geneviève Baujat; Nathalie Boddaert; Jean-Paul Bonnefont; Guy Froyen; Roseline Gesny; valerie malan; Arnold Munnich; Laurence Colleaux
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
European journal of human genetics : EJHG 2013;21(2):195-9.
2012: Hussein Mouawia; Ali Saker; Joe Leigh Simpson; alexandra benachi; Jean-Paul Bonnefont; Laurence Bussières; René Frydman; Jean-Philippe jais; Bernard Lacour; Patrizia Paterlini-Brechot
Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy.
Reproductive biomedicine online 2012;25(5):508-20.
2012: Nathalie Delphin; Sylvain Hanein; Josseline Kaplan; Jean-Paul Moisan; Arnold Munnich; Patrick Nitschke; Solenn Pruvost; Olivier Roche; Dominique Bonneau; Jean-Paul Bonnefont; Christine Boyle; Lucas Fares Taie; Xavier Zanlonghi; Jean-Michel Rozet
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
European journal of human genetics : EJHG 2012;20(3):352-6.
2011: F Lamazou; M Lelorch; Arnold Munnich; Serge Romana; Julie Steffann; Michel Vekemans; Jean-Paul Bonnefont; Philippe Burlet; Renato Fanchin; Frydman Nelly; Nadine Gigarel; Laetitia Hesters; Violaine Kerbrat; René Frydman
[Preimplantation diagnosis with HLA typing: birth of the first double hope child in France].
Journal de gynécologie, obstétrique et biologie de la reproduction 2011;40(7):682-6.
2011: Nadine Gigarel; Laetitia Hesters; David Samuels; Sophie Monnot; Philippe Burlet; Violaine Kerbrat; Frédéric Lamazou; alexandra benachi; René Frydman; Josué Feingold; Agnes Rotig; Arnold Munnich; Jean-Paul Bonnefont; Frydman Nelly; Julie Steffann
Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.
American journal of human genetics 2011;88(4):494-8.
2011: René Frydman; Nadine Gigarel; Laetitia Hesters; Violaine Kerbrat; Fredéric Lamazou; Marc Le Lorch; Arnold Munnich; Serge Romana; Julie Steffann; Frydman Nelly; Jean-Paul Bonnefont; Philippe Burlet; Renato Fanchin; Michel Vekemans
[Ten years' experience of preimplantation genetic diagnosis in Paris: remaining obstacles and potential solutions].
Bulletin de l'Académie nationale de médecine 2011;195(4-5):1005-13; discussion 1013-4.
2011: Sophie Monnot; Nadine Gigarel; David Samuels; Philippe Burlet; Laetitia Hesters; Nelly Frydman; René Frydman; Violaine Kerbrat; Benoit Funalot; Jelena Martinovic; alexandra benachi; Josué Feingold; Arnold Munnich; Jean-Paul Bonnefont; Julie Steffann
Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system.
Human mutation 2011;32(1):116-25.
2010: Vassili Valayannopoulos; Coralie Haudry; Valérie Serre; Magalie Barth; Nathalie Boddaert; Jean-Baptiste Arnoux; Valérie Cormier-Daire; Marlène Rio; Daniel Rabier; Anne Vassault; Arnold Munnich; Jean-Paul Bonnefont; Pascale de Lonlay; Agnès Rötig; Anne-Sophie Lebre
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.
Mitochondrion 2010;10(4):335-41.
2010: Philippe Burlet; Nadine Gigarel; Maryse Magen; Séverine Drunat; alexandra benachi; Laetitia Hesters; Arnold Munnich; Jean-Paul Bonnefont; Julie Steffann
Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy.
European journal of human genetics : EJHG 2010;18(4):505-8.
2010: Marlène Rio; Valérie Malan; Sarah Boissel; Annick Toutain; Ghislaine Royer; Stéphanie Gobin; Nicole Morichon-Delvallez; Catherine Turleau; Jean-Paul Bonnefont; Arnold Munnich; Michel Vekemans; Laurence Colleaux
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
European journal of human genetics : EJHG 2010;18(3):285-90.
2009: N Brahimi; M Jambou; Emmanuelle Sarzi; Valérie Serre; Nathalie Boddaert; S Romano; Pascale de Lonlay; Abdelhamid Slama; Arnold Munnich; Agnès Rötig; Jean-Paul Bonnefont; A S Lebre
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Molecular genetics and metabolism 2009;97(3):221-6.
2009: Sophie Monnot; Valérie Serre; Bernadette Chadefaux-Vekemans; Joelle Aupetit; S Romano; Pascale de Lonlay; Jean-Marie Rival; Arnold Munnich; Julie Steffann; Jean-Paul Bonnefont
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
Human mutation 2009;30(5):734-40.
2008: Francesca Fusco; Alessandra Pescatore; Elodie Bal; Aida Ghoul; Mariateresa Paciolla; Maria Brigida Lioi; Michele D'Urso; Smail Hadj Rabia; Christine Bodemer; Jean-Paul Bonnefont; Arnold Munnich; Maria Giuseppina Miano; Asma Smahi; Matilde Valeria Ursini
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Human mutation 2008;29(5):595-604.
2008: Geneviève Quenum-Miraillet; valerie malan; Jelena Martinovic; Férechté Encha-Razavi; Bernard Aral; Isabelle Texier; Jean-Paul Bonnefont; Michel Vekemans; Nicole Morichon-Delvallez
Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia.
Prenatal diagnosis 2008;28(1):69-71.
2007: Julie Steffann; Nadine Gigarel; Johanna Corcos; M Bonnière; Férechté Encha-Razavi; Martine Sinico; S Prevot; Yves Dumez; A Yamgnane; R Frydman; Arnold Munnich; Jean-Paul Bonnefont
Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome.
Journal of medical genetics 2007;44(10):664-9.
2007: Sophie Lebon; Limor Minai; Dominique Chretien; Johanna Corcos; Valérie Serre; Noman Kadhom; Julie Steffann; Jean-Yves Pauchard; Arnold Munnich; Jean-Paul Bonnefont; Agnès Rötig
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.
Molecular genetics and metabolism 2007;92(1-2):104-8.
2007: valerie malan; R Gesny; Nicole Morichon-Delvallez; Marie-Cécile Aubry; alexandra benachi; Damien Sanlaville; Catherine Turleau; Jean-Paul Bonnefont; C Fekete-Nihoul; Michel Vekemans
Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report.
Human reproduction (Oxford, England) 2007;22(4):1037-41.
2007: Guntram Borck; Mohamed Zarhrate; Jean-Paul Bonnefont; Arnold Munnich; Valérie Cormier-Daire; Laurence Colleaux
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
Human mutation 2007;28(2):205-6.
2007: Valérie Pelletier; Marguerite Jambou; Nathalie Delphin; Elena Zinovieva; Morgane Stum; Nadine Gigarel; Hélène Dollfus; Christian Hamel; Annick Toutain; Jean-Louis Dufier; Olivier Roche; Arnold Munnich; Jean-Paul Bonnefont; Josseline Kaplan; Jean-Michel Rozet
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
Human mutation 2007;28(1):81-91.
2006: Philippe Burlet; Frydman Nelly; Nadine Gigarel; Violaine Kerbrat; Gérard Tachdjian; Estelle Feyereisen; Jean-Paul Bonnefont; René Frydman; Arnold Munnich; Julie Steffann
Multiple displacement amplification improves PGD for fragile X syndrome.
Molecular human reproduction 2006;12(10):647-52.
2006: Ali Saker; alexandra benachi; Jean-Paul Bonnefont; Arnold Munnich; Yves Dumez; Bernard Lacour; Patrizia Paterlini-Brechot
Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosis.
Prenatal diagnosis 2006;26(10):906-16.
2006: C Bouchet; Julie Steffann; Johanna Corcos; S Monnot; V Paquis; Agnès Rötig; Sophie Lebon; P Levy; Ghislaine Royer; Irina Giurgea; Nadine Gigarel; alexandra benachi; Yves Dumez; Arnold Munnich; Jean-Paul Bonnefont
Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development.
Journal of medical genetics 2006;43(10):788-92.
2006: Guntram Borck; Mohamed Zarhrate; Céline Cluzeau; Elodie Bal; Jean-Paul Bonnefont; Arnold Munnich; Valérie Cormier-Daire; Laurence Colleaux
Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene.
Human mutation 2006;27(8):731-5.
2006: Fatima Djouadi; Flore Aubey; Dimitri Schlemmer; Stéphanie Gobin; P Laforet; R J A Wanders; Arnold W Strauss; Jean-Paul Bonnefont; Jean Bastin
Potential of fibrates in the treatment of fatty acid oxidation disorders: revival of classical drugs?
Journal of inherited metabolic disease 2006;29(2-3):341-2.
2006: Julie Steffann; Frydman Nelly; Nadine Gigarel; Philippe Burlet; Pierre F Ray; R Fanchin; Estelle Feyereisen; Violaine Kerbrat; Gérard Tachdjian; Jean-Paul Bonnefont; R Frydman; Arnold Munnich
Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis.
Journal of medical genetics 2006;43(3):244-7.
2005: Philippe Burlet; Frydman Nelly; Nadine Gigarel; Jean-Paul Bonnefont; Violaine Kerbrat; Gérard Tachdjian; René Frydman; Arnold Munnich; Julie Steffann; Pierre F Ray
Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy.
Fertility and sterility 2005;84(3):734-9.
2005: Marie-Hélène Odièvre; Dominique Chretien; Arnold Munnich; Brian H Robinson; Renée Dumoulin; Sahben Masmoudi; Noman Kadhom; Agnès Rötig; Pierre Rustin; Jean-Paul Bonnefont
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
Human mutation 2005;25(3):323-4.
2005: Nadine Gigarel; Pierre F Ray; Philippe Burlet; Frydman Nelly; Ghislaine Royer; Sophie Lebon; Jean-Paul Bonnefont; René Frydman; Arnold Munnich; Julie Steffann
Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR.
Molecular genetics and metabolism 2005;84(3):289-92.
2004: Agnès Rötig; Sophie Lebon; Elena Zinovieva; Julie Mollet; Emmanuelle Sarzi; Jean-Paul Bonnefont; Arnold Munnich
Molecular diagnostics of mitochondrial disorders.
Biochimica et biophysica acta 2004;1659(2-3):129-35.
2004: Jean-Paul Bonnefont; Fatima Djouadi; Carina Prip-Buus; Stéphanie Gobin; Arnold Munnich; Jean Bastin
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.
Molecular aspects of medicine 2004;25(5-6):495-520.
2004: Julie Steffann; Valérie Raclin; Asma Smahi; Hayley Woffendin; Arnold Munnich; Sue Kenwrick; Anne-Gaelle Grebille; alexandra benachi; Yves Dumez; Jean-Paul Bonnefont; Smaïl Hadj-Rabia
A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti.
Prenatal diagnosis 2004;24(5):384-8.
2004: M N Feuillet-Fieux; Magali Ferrec; Nadine Gigarel; Laure Thuillier; Isabelle Sermet; Julie Steffann; Gérard Lenoir; Jean-Paul Bonnefont
Novel CFTR mutations in black cystic fibrosis patients.
Clinical genetics 2004;65(4):284-7.
2003: Stéphanie Gobin; Laure Thuillier; Gerwald Jogl; Audrey Faye; Liang Tong; Mihaiti Chi; Jean-Paul Bonnefont; JEAN R GIRARD; Carina Prip-Buus
Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.
The Journal of biological chemistry 2003;278(50):50428-34.
2003: Ghislaine Royer; Sylvain Hanein; Valérie Raclin; Nadine Gigarel; Jean-Michel Rozet; Arnold Munnich; Julie Steffann; Jean-Louis Dufier; Josseline Kaplan; Jean-Paul Bonnefont
NDP gene mutations in 14 French families with Norrie disease.
Human mutation 2003;22(6):499.
2003: Bernadette Chadefaux Vekemans; Jean-Paul Bonnefont; Joelle Aupetit; Ghislaine Royer; Véronique Droin; Tania Attié-Bitach; Jean-Marie Saudubray; Laure Thuillier
Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach.
Prenatal diagnosis 2003;23(11):884-7.
2003: Delphine Feldmann; Rémy Couderc; Marie-Pierre Audrezet; Claude Ferec; Thierry Bienvenu; Marie Desgeorges; Mireille Claustres; herve mittre; Martine Blayau; Dominique Bozon; Marie-Claire Malinge; Nicole Monnier; Jean-Paul Bonnefont; Albert Iron; Eric Bieth; Viviane Dumur; Christine Clavel; Cécile Cazeneuve; Emmanuelle Girodon
CFTR genotypes in patients with normal or borderline sweat chloride levels.
Human mutation 2003;22(4):340.
2003: Fatima Djouadi; Jean-Paul Bonnefont; Laure Thuillier; Véronique Droin; Noman Khadom; Arnold Munnich; Jean Bastin
Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate.
Pediatric research 2003;54(4):446-51.
2003: Laure Thuillier; Hidayeth Rostane; Véronique Droin; France Demaugre; Michèle Brivet; Noman Kadhom; Carina Prip-Buus; Stéphanie Gobin; Jean-Marie Saudubray; Jean-Paul Bonnefont
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
Human mutation 2003;21(5):493-501.
2003: Fatima Djouadi; Jean-Paul Bonnefont; Arnold Munnich; Jean Bastin
Characterization of fatty acid oxidation in human muscle mitochondria and myoblasts.
Molecular genetics and metabolism 2003;78(2):112-8.
2003: Pierre F Ray; Paule Benit; Jean-Paul Bonnefont; Arnold Munnich
Chronology of reported denaturing high performance liquid chromatography (DHPLC)-based prenatal diagnoses.
Prenatal diagnosis 2003;23(1):81.
2002: Stéphanie Gobin; Jean-Paul Bonnefont; Carina Prip-Buus; Claude Mugnier; Magali Ferrec; France Demaugre; Jean-Marie Saudubray; Hidayeth Rostane; Fatima Djouadi; William Wilcox; Stephen Cederbaum; Richard Haas; William L Nyhan; Anne Green; George Gray; JEAN R GIRARD; Laure Thuillier
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
Human genetics 2002;111(2):179-89.
2002: P de Lonlay; Fatima Djouadi; Jean-Paul Bonnefont; Jean-Marie Saudubray; Jean Bastin
[Mitochondrial beta-oxidation of fatty acids: an essential metabolic pathway of muscular function].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2002;9 Suppl 2():175s-178s.
2002: Claude Houdayer; Julie Lourdaux; Thierry Billette de Villemeur; Ghislaine Royer-Legrain; Michel Bahuau; Jean-Paul Bonnefont; Delphine Feldmann; Rémy Couderc
Simple fluorescent PCR assay for discriminating FRAXA fully mutated females from normal homozygotes.
Genetic testing 2002;6(2):135-9.
2001: Jeanne Amiel; Valérie Raclin; J M Jouannic; N Morichon; H Hoffman-Radvanyi; M Dommergues; JOSUE FEINGOLD; Arnold Munnich; Jean-Paul Bonnefont
Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy.
Journal of medical genetics 2001;38(12):850-2.
2001: Sue Kenwrick; Hayley Woffendin; Tracy J Jakins; S G Shuttleworth; E Mayer; L Greenhalgh; J Whittaker; S Rugolotto; Tiziana Bardaro; Teresa Esposito; Michele D'Urso; F Soli; A Turco; Asma Smahi; Dominique Hamel-Teillac; Stanislas LYONNET; Jean-Paul Bonnefont; Arnold Munnich; Swaroop Aradhya; C D Kashork; Lisa Shaffer; David L Nelson; M Levy; R A Lewis
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.
American journal of human genetics 2001;69(6):1210-7.
2001: Jeanne Amiel; Nadine Gigarel; A Benacki; Paule Benit; Isabelle Valnot; B Parfait; Jürgen-Christoph von Kleist-Retzow; Valérie Raclin; Smaïl Hadj-Rabia; Yves Dumez; Pierre Rustin; Jean-Paul Bonnefont; Arnold Munnich; Agnès Rötig
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
Prenatal diagnosis 2001;21(7):602-4.
2001: Chitra Prasad; J P Johnson; Jean-Paul Bonnefont; LA Dilling; A Micheil Innes; James C Haworth; L Beischel; Laure Thuillier; Carina Prip-Buus; R Singal; J R Thompson; Asuri N Prasad; N Buist; Cheryl R Greenberg
Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program.
Molecular genetics and metabolism 2001;73(1):55-63.
2001: Carina Prip-Buus; Laure Thuillier; N Abadi; Chitra Prasad; LA Dilling; J Klasing; France Demaugre; Cheryl R Greenberg; James C Haworth; Véronique Droin; Noman Kadhom; Stéphanie Gobin; Pierre Kamoun; JEAN R GIRARD; Jean-Paul Bonnefont
Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.
Molecular genetics and metabolism 2001;73(1):46-54.
2001: Paule Bénit; Jean-Paul Bonnefont; A Kara-Mostefa; C Francannet; Arnold Munnich; Pierre F Ray
Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis.
Prenatal diagnosis 2001;21(4):279-83.
2001: B Imessaoudene; Jean-Paul Bonnefont; Ghislaine Royer; Valérie Cormier-Daire; Stanislas LYONNET; G Lyon; Arnold Munnich; Jeanne Amiel
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.
Journal of medical genetics 2001;38(3):171-4.
2000: Pierre F Ray; Nadine Gigarel; Jean-Paul Bonnefont; Tania Attié; Samir Hamamah; Frydman Nelly; Michel Vekemans; René Frydman; Arnold Munnich
First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency.
Prenatal diagnosis 2000;20(13):1048-54.
2000: Paule Bénit; A Kara-Mostefa; M Berthelon; K Sengmany; Arnold Munnich; Jean-Paul Bonnefont
Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography.
Human mutation 2000;16(5):417-21.
2000: Isabelle Valnot; S Osmond; Nadine Gigarel; B Mehaye; Jeanne Amiel; Valérie Cormier-Daire; Arnold Munnich; Jean-Paul Bonnefont; Pierre Rustin; Agnès Rötig
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
American journal of human genetics 2000;67(5):1104-9.
2000: Marie-France Gagnadoux; Tania Attié; Jeanne Amiel; Nadine Gigarel; Jean-Paul Bonnefont; Arnold Munnich; Marie-Claire Gubler; Corinne Antignac
[Prenatal diagnosis of autosomal recessive polycystic kidney disease].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2000;7(9):942-7.
2000: M N Feuillet-Fieux; Isabelle Sermet; Aleksander Edelman; Tania Torossi; Magali Ferrec; M Guillot; Gérard Lenoir; Jean-Paul Bonnefont; Laure Thuillier
Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis.
Human mutation 2000;16(1):95.
2000: Jean-Marie Saudubray; Pascale de Lonlay; Guy Touati; Delphine Martin; Marie-Cécile Nassogne; P Castelnau; Caroline Sevin; C Laborde; C Baussan; Michèle Brivet; Anne Vassault; Daniel Rabier; Jean-Paul Bonnefont; Pierre Kamoun
Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis.
Journal of inherited metabolic disease 2000;23(3):197-214.
2000: Laure Thuillier; Caroline Sevin; France Demaugre; Michèle Brivet; Daniel Rabier; Véronique Droin; Joelle Aupetit; N Abadi; Pierre Kamoun; Jean-Marie Saudubray; Jean-Paul Bonnefont
Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient.
Neuromuscular disorders : NMD 2000;10(3):200-5.
2000: Mireille Claustres; Caroline Guittard; Dominique Bozon; F Chevalier; C Verlingue; Claude Ferec; Emmanuelle Girodon; Cécile Cazeneuve; Thierry Bienvenu; Guy Lalau; Viviane Dumur; Delphine Feldmann; Eric Bieth; Martine Blayau; Christine Clavel; I Creveaux; Marie-Claire Malinge; Nicole Monnier; P Malzac; herve mittre; J C Chomel; Jean-Paul Bonnefont; Albert Iron; M Chery; M D Georges
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Human mutation 2000;16(2):143-56.
1999: Jean-Paul Bonnefont; France Demaugre; Carina Prip-Buus; Jean-Marie Saudubray; Michèle Brivet; N Abadi; Laure Thuillier
Carnitine palmitoyltransferase deficiencies.
Molecular genetics and metabolism 1999;68(4):424-40.
1999: Jean-Marie Saudubray; Delphine Martin; Pascale de Lonlay; Guy Touati; F Poggi-Travert; D Bonnet; Philippe Andre Jouvet; M Boutron; Abdelhamid Slama; Christine Vianey-Saban; Jean-Paul Bonnefont; Daniel Rabier; Pierre Kamoun; Michèle Brivet
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
Journal of inherited metabolic disease 1999;22(4):488-502.
1999: Michèle Brivet; Audrey Boutron; Abdelhamid Slama; C Costa; Laure Thuillier; France Demaugre; Daniel Rabier; Jean-Marie Saudubray; Jean-Paul Bonnefont
Defects in activation and transport of fatty acids.
Journal of inherited metabolic disease 1999;22(4):428-41.
1999: A Kara-Mostefa; O Raoul; Stanislas LYONNET; J Amiel; Arnold Munnich; M Vekemans; S Magnier; B Ossareh; Jean-Paul Bonnefont
Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism.
American journal of human genetics 1999;64(5):1475-8.
1999: Claude Houdayer; Alban LE MONNIER; M Gerard; C Chauve; Mohammed Tredano; T B de Villemeur; P Aymard; Jean-Paul Bonnefont; Delphine Feldmann
Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus.
Clinical chemistry and laboratory medicine : CCLM / FESCC 1999;37(4):397-402.
1999: Paule Bénit; A Kara-Mostefa; Smaïl Hadj-Rabia; Arnold Munnich; Jean-Paul Bonnefont
Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations.
Human mutation 1999;14(5):428-32.
1998: Laure Thuillier; Bernadette Chadefaux-Vekemans; Jean-Paul Bonnefont; A Kara; Joelle Aupetit; C Rochette; Gilles Montalescot; M C Couty; Pierre Kamoun; Annick Ankri
Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?
Journal of inherited metabolic disease 1998;21(8):812-22.
1998: Jean Paul Harpey; D Heron; M Prudent; S Lesourd; I Henry; G Royer-Legrain; A Munnich; Jean-Paul Bonnefont
Recurrent meiotic nondisjunction of maternal chromosome 15 in a sibship.
American journal of medical genetics 1998;76(1):103-4.
1997: B François; Virginie Colomb; Jean-Paul Bonnefont; Olivier Goulet; M Benhariz; Anne Vassault; Daniel Rabier; Claude Ricour
Tolerance to starvation in children on long-term total parenteral nutrition.
Clinical nutrition (Edinburgh, Scotland) 1997;16(3):113-7.
1997: Jean-Paul Bonnefont; Laure Thuillier; Nadine Gigarel; C Rochette; M L Briard; Arnold Munnich
Prenatal diagnosis of cystic fibrosis.
Pediatric pulmonology. Supplement 1997;16():63-4.
1997: Agnès Rötig; Jean-Paul Bonnefont; Arnold Munnich
[Mitochondrial diabetes].
Journées annuelles de diabétologie de l'Hôtel-Dieu 1997;():33-42.
1997: E Souied; P J Pisella; B Ossareh; Antoine P Brézin; P Junes; C Wild-Decrette; A Munnich; Jean-Paul Bonnefont; H Mondon
[Positive diagnosis of Leber's hereditary optic neuropathy using molecular genetics].
Journal français d'ophtalmologie 1997;20(1):65-70.
1996: Agnès Rötig; Jean-Paul Bonnefont; Arnold Munnich
Mitochondrial diabetes mellitus.
Diabetes & metabolism 1996;22(5):291-8.
1996: Jean-Paul Bonnefont; Franco Taroni; Patrizia Cavadini; Claude Cepanec; Michèle Brivet; J M Saudubray; J P Leroux; France Demaugre
Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.
American journal of human genetics 1996;58(5):971-8.
1996: S B van der Meer; F Poggi; Marco Spada; Jean-Paul Bonnefont; H Ogier; Philippe Hubert; E Depondt; D Rapoport; Daniel Rabier; C Charpentier; P Parvy; J Bardet; Pierre Kamoun; Jean-Marie Saudubray
Clinical outcome and long-term management of 17 patients with propionic acidaemia.
European journal of pediatrics 1996;155(3):205-10.
1996: B Ségues; P S Veber; Daniel Rabier; Patrick Calvas; Jean-Marie Saudubray; B Gilbert-Dussardier; Jean-Paul Bonnefont; Arnold Munnich
A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.
Human mutation 1996;8(4):373-4.
1996: A Munnich; Agnès Rötig; Dominique Chretien; V Cormier; Thomas Bourgeron; Jean-Paul Bonnefont; Jean-Marie Saudubray; Pierre Rustin
Clinical presentation of mitochondrial disorders in childhood.
Journal of inherited metabolic disease 1996;19(4):521-7.
1996: F Poggi-Travert; D Martin; T Billette de Villemeur; Jean-Paul Bonnefont; A Vassault; Daniel Rabier; C Charpentier; Pierre Kamoun; Arnold Munnich; Jean-Marie Saudubray
Metabolic intermediates in lactic acidosis: compounds, samples and interpretation.
Journal of inherited metabolic disease 1996;19(4):478-88.
1995: P Saunier; Dominique Chretien; C Wood; A Rötig; Jean-Paul Bonnefont; J M Saudubray; D Rabier; A Munnich; Pierre Rustin
Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria.
Neuromuscular disorders : NMD 1995;5(4):285-9.
1994: S B van der Meer; F Poggi; Marco Spada; Jean-Paul Bonnefont; H Ogier; Philippe Hubert; E Depondt; D Rapoport; Daniel Rabier; C Charpentier
Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia.
The Journal of pediatrics 1994;125(6 Pt 1):903-8.
1994: B Gilbert-Dussardier; Daniel Rabier; S Strautnieks; B Segues; Jean-Paul Bonnefont; Arnold Munnich
A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.
Human molecular genetics 1994;3(5):831-2.
1994: Valérie Cormier-Daire; Jean-Paul Bonnefont; Pierre Rustin; C Maurage; H Ogler; J Schmitz; C Ricour; J M Saudubray; A Munnich; Agnès Rötig
Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy.
The Journal of pediatrics 1994;124(1):63-70.
1994: J Marquet; B Chadefaux; Jean-Paul Bonnefont; J M Saudubray; Jacqueline Zittoun
Methylenetetrahydrofolate reductase deficiency: prenatal diagnosis and family studies.
Prenatal diagnosis 1994;14(1):29-33.
1992: R J Wanders; Lodewijk IJlst; F Poggi; Jean-Paul Bonnefont; A Munnich; Michèle Brivet; Daniel Rabier; Jean-Marie Saudubray
Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.
Biochemical and biophysical research communications 1992;188(3):1139-45.
1992: Jean-Paul Bonnefont; Dominique Chretien; Pierre Rustin; B Robinson; A Vassault; J Aupetit; C Charpentier; Daniel Rabier; J M Saudubray; Arnold Munnich
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.
The Journal of pediatrics 1992;121(2):255-8.
1992: Charles A Stanley; Daniel Hale; Gerard T Berry; S Deleeuw; J Boxer; Jean-Paul Bonnefont
Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.
The New England journal of medicine 1992;327(1):19-23.
1992: Arnold Munnich; Pierre Rustin; Agnès Rötig; Dominique Chretien; Jean-Paul Bonnefont; C Nuttin; V Cormier; A Vassault; P Parvy; J Bardet
Clinical aspects of mitochondrial disorders.
Journal of inherited metabolic disease 1992;15(4):448-55.
1992: France Demaugre; Jean-Paul Bonnefont; Michèle Brivet; Claude Cepanec; Rodney J Pollitt; B L Priestley; J M Saudubray; J P Leroux
Pathophysiological approach to carnitine palmitoyltransferase II deficiencies.
Progress in clinical and biological research 1992;375():301-8.
1992: J M Saudubray; G Mitchell; Jean-Paul Bonnefont; G Schwartz; C Nuttin; Arnold Munnich; Michèle Brivet; A Vassault; France Demaugre; Daniel Rabier
Approach to the patient with a fatty acid oxidation disorder.
Progress in clinical and biological research 1992;375():271-88.
1992: Charles A Stanley; F Sunaryo; Daniel Hale; Jean-Paul Bonnefont; France Demaugre; J M Saudubray
Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency.
Journal of inherited metabolic disease 1992;15(5):785-9.
1991: V Cormier; Pierre Rustin; Jean-Paul Bonnefont; C Rambaud; A Vassault; Daniel Rabier; P Parvy; S Couderc; F Parrot-Roulaud; M Carré
Hepatic failure in disorders of oxidative phosphorylation with neonatal onset.
The Journal of pediatrics 1991;119(6):951-4.
1991: Charles A Stanley; S DeLeeuw; P M Coates; C Vianey-Liaud; Priscille Divry; Jean-Paul Bonnefont; J M Saudubray; M Haymond; F K Trefz; G N Breningstall
Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.
Annals of neurology 1991;30(5):709-16.
1991: V Cormier; Agnès Rötig; Jean-Paul Bonnefont; F Mechinand; C Berthou; Olivier Goulet; J Schmitz; Stéphane Blanche; A Vassaut; M Maier
[Pearson's syndrome. Pancytopenia with exocrine pancreatic insufficiency: new mitochondrial disease in the first childhood].
Archives françaises de pédiatrie 1991;48(3):171-8.
1991: France Demaugre; Jean-Paul Bonnefont; M Colonna; Claude Cepanec; J P Leroux; J M Saudubray
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.
The Journal of clinical investigation 1991;87(3):859-64.
1991: M M Coude; C Charpentier; Jean-Paul Bonnefont; G Cheron; Pierre Kamoun
Organic acids in aqueous humour and plasma: post mortem study in infants and diagnosis of enzymopathies.
Journal of inherited metabolic disease 1991;14(5):668-73.
1990: Jean-Paul Bonnefont; N B Specola; A Vassault; A Lombes; H Ogier; J B de Klerk; Arnold Munnich; M Coude; M Paturneau-Jouas; Jean-Marie Saudubray
The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states.
European journal of pediatrics 1990;150(2):80-5.
1990: Agnès Rötig; V Cormier; Stéphane Blanche; Jean-Paul Bonnefont; F Ledeist; N Romero; J Schmitz; Pierre Rustin; A Fischer; Jean-Marie Saudubray
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.
The Journal of clinical investigation 1990;86(5):1601-8.
1990: France Demaugre; Jean-Paul Bonnefont; Claude Cepanec; J Scholte; J M Saudubray; J P Leroux
Immunoquantitative analysis of human carnitine palmitoyltransferase I and II defects.
Pediatric research 1990;27(5):497-500.
1990: Jean-Marie Saudubray; H Ogier; Jean-Paul Bonnefont; A Munich; A Lombes; F Hervé; G Mitchel; B Poll The; N Specola; B Parvy
[Clinical approach to hereditary metabolic disorders in neonates. Review of 20 years' experience].
Ceskoslovenská pediatrie 1990;45(1):1-6.
1990: Jean-Paul Bonnefont; I Tein; J M Saudubray; France Demaugre
Hepatic and muscular forms of palmitoyl carnitine transferase deficiency.
Progress in clinical and biological research 1990;321():451-6.
1990: G Cheron; C Rambaud; Jean-Paul Bonnefont; C Rouzioux; J Lavaud; Jean-Marie Saudubray; C Nezelof
[Sudden infant death syndrome].
Annales de pédiatrie 1990;37(1):9-12.
1989: Daniel Rabier; A Benoit; F Petit; A Chekoury; Jean-Paul Bonnefont; Jean-Marie Saudubray; Pierre Kamoun
Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity.
Clinica chimica acta; international journal of clinical chemistry 1989;186(1):25-9.
1989: Jean-Marie Saudubray; S Lyonnet; A Lombes; F Hervé; Jean-Paul Bonnefont; Arnold Munnich; H Ogier
[Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset].
Journal de génétique humaine 1989;37(4-5):299-310.
1989: I Tein; France Demaugre; Jean-Paul Bonnefont; J M Saudubray
Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts. Tissue specific isoforms of CPT1?
Journal of the neurological sciences 1989;92(2-3):229-45.
1989: Jean-Paul Bonnefont; R Haas; J Wolff; L P Thuy; R Buchta; James E Carroll; J M Saudubray; France Demaugre; William Nyhan
Deficiency of carnitine palmitoyltransferase I.
Journal of child neurology 1989;4(3):198-203.
1989: B Chadefaux; D Rabier; Jean-Paul Bonnefont; C Jakobs; Y Dumez; P Kamoun
Prenatal diagnosis of propionic acidemia: amniocentesis at the 11th week of pregnancy.
Prenatal diagnosis 1989;9(6):448.
1989: B Chadefaux; Jean-Paul Bonnefont; D Rabier; V E Shih; J M Saudubray; P Kamoun
Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
American journal of medical genetics 1989;32(2):264.
1989: P Parvy; J Bardet; Daniel Rabier; Jean-Paul Bonnefont; Pierre Kamoun
A new pitfall in plasma amino acid analysis.
Clinical chemistry 1989;35(1):178.
1989: Jean-Marie Saudubray; H Ogier; Jean-Paul Bonnefont; Arnold Munnich; A Lombes; F Hervé; G Mitchel; B P Thé; N Specola; P Parvy
Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey.
Journal of inherited metabolic disease 1989;12 Suppl 1():25-41.
1989: M Coude; Jean-Paul Bonnefont; C Charpentier; B Chadefaux; Jean-Marie Saudubray; Pierre Kamoun
Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis.
Journal of inherited metabolic disease 1989;12(1):95-6.
1989: P Tardy; P Parvy; C Charpentier; Jean-Paul Bonnefont; Jean-Marie Saudubray; Pierre Kamoun
Attempt at therapy in sulphite oxidase deficiency.
Journal of inherited metabolic disease 1989;12(1):94-5.
1988: France Demaugre; Jean-Paul Bonnefont; G Mitchell; N Nguyen-Hoang; Anna Pelet; M Rimoldi; Stefano Di Donato; J M Saudubray
Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities.
Pediatric research 1988;24(3):308-11.
1987: A Lombes; H Ogier; Jean-Paul Bonnefont; Arnold Munnich; Jean-Marie Saudubray
[Research methods in metabolic myopathies in children].
Annales de médecine interne 1987;138(6):441-3.
1987: Jean-Marie Saudubray; N Specola; B Middleton; A Lombes; Jean-Paul Bonnefont; C Jakobs; A Vassault; C Charpentier; R Day
Hyperketotic states due to inherited defects of ketolysis.
Enzyme 1987;38(1-4):80-90.
1985: Jean-Paul Bonnefont; H Ogier; G Mitchell; France Demaugre; Anna Pelet; J M Saudubray; J Frezal
[Heterogeneity of carnitine palmitoyltransferase deficiencies. Deficiency of CPT I in the hepatic form and CPT II in the muscular form].
Archives françaises de pédiatrie 1985;42 Suppl 1():613-7.