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Species | Jean-Paul BonnefontSummaryCountry: France Publications
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Publications
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspectsJean Paul Bonnefont
INSERM Unit U393, Assistance Publique Hopitaux de Paris, CHU Necker Enfants Malades, Tour Lavoisier 2 étage, 149 rue de Sevres, 75743 Paris Cedex 15, France
Mol Aspects Med 25:495-520. 2004..Prenatal diagnosis may be offered for pregnancies at a 1/4 risk of infantile/severe-type CPT2 deficiency...- 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 syndromeSophie Lebon
Service de Génétique and INSERM U781, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
Mol Genet Metab 92:104-8. 2007..These results report the first intronic NDUFS7 gene mutation and demonstrate the crucial role of NDUFS7 in the biogenesis of complex I... - Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL GeneGuntram Borck
INSERM U781 and Département de Génétique, Hopital Necker Enfants Malades, Paris, France
Hum Mutat 27:731-5. 2006..Our results demonstrate that mutations in the 5' noncoding region of the NIPBL gene can be involved in the pathogenesis of CdLS. Mutations affecting this region of the gene might be associated with a milder phenotype... - Molecular diagnostics of mitochondrial disordersAgnes Rotig
INSERM U393, Service de Genetique, Hopital Necker Enfants Malades, Unite de Recherches sur les, 149 rue de Sevres, 75015 Paris, France
Biochim Biophys Acta 1659:129-35. 2004..However, the main problem is encountered in the cases of sporadic cases for which no genetic approaches can be developed. In these cases, functional complementation by human chromosomes or cDNA is the only presently available strategy... - Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutationsGuntram Borck
INSERM U781 and Département de Génétique, Hopital Necker Enfants Malades, Paris, France
Hum Mutat 28:205-6. 2007..If confirmed, these data may have important implications for directing mutation screening in CdLS... - Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counselingValerie Pelletier
Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement, Institut Nationale de la Santé et de la Recherche Médicale INSERM U781, Hopital Necker Enfants Malades, Paris, France
Hum Mutat 28:81-91. 2007.... - A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmentiJulie Steffann
Department of Genetics, , Paris, France
Prenat Diagn 24:384-8. 2004..CONCLUSION: A current approach to IP prenatal diagnosis is proposed on the basis of the previously mentioned molecular tools... 
Myeloperoxidase promoter polymorphism -463G is associated with more severe clinical expression of cystic fibrosis pulmonary diseaseWanda F Reynolds
Sidney Kimmel Cancer Center, San Diego, CA 92121, USA
Mediators Inflamm 2006:36735. 2006..Our findings indicate that the level of MPO gene expression influences the CF pathogenesis, presumably reflecting cellular damage by MPO-generated oxidants or other activity of MPO in airway inflammation...- Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiencyLaure Thuillier
INSERM U393, Groupe Hospitalier Necker-Enfants Malades, Paris, France
Hum Mutat 21:493-501. 2003.... - A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiencyMarie Hélène Odièvre
Unité Inserm U393, Hopital Necker Enfants Malades, Paris, France
Hum Mutat 25:323-4. 2005.... - CFTR genotypes in patients with normal or borderline sweat chloride levelsDelphine Feldmann
Laboratoire de Biochimie, Hopital A Trousseau, AP HP, Paris, France
Hum Mutat 22:340. 2003..These findings improve our understanding of the distribution of CFTR alleles in CF with normal or borderline sweat chloride concentrations and will facilitate the development of more sensitive CFTR mutation screening... - Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrateFatima Djouadi
INSERM U393, , Paris, France
Pediatr Res 54:446-51. 2003.... - NDP gene mutations in 14 French families with Norrie diseaseGhislaine Royer
Department of Genetics, Necker Hospital, Paris, France
Hum Mutat 22:499. 2003..This observation raises the issue of misdiagnosis, phenocopies, or existence of other X-linked or autosomal genes, the mutations of which would mimic the Norrie disease phenotype... - Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approachBernadette Chadefaux Vekemans
Service de Biochimie B, Groupe Hospitalier Necker-Enfants Malades, Paris, France
Prenat Diagn 23:884-7. 2003.... - Functional and structural basis of carnitine palmitoyltransferase 1A deficiencyStephanie Gobin
Departement d Endocrinologie, Institut Cochin, INSERM U567, CNRS Unité Mixte de Recherche 8104, Universite Rene Descartes, 24 rue du Faubourg Saint Jacques, 75014 Paris, France
J Biol Chem 278:50428-34. 2003..This study provides novel insights into the functionality of CPT1A that may contribute to the design of drugs for the treatment of lipid disorders... - Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemiaStephanie Gobin
INSERM U393, Groupe Hospitalier Necker Enfants Malades, Paris, France
Hum Genet 111:179-89. 2002..Thus, identification of the CPT1A gene organization contributes to improve the molecular screening in patients and provides tools for the study of the human CPT1A gene expression...