Jean-Paul Bonnefont

Summary

Country: France

Publications

  1. ncbi request reprint Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects
    Jean 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
  2. ncbi request reprint 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
    Sophie 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
  3. ncbi request reprint Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene
    Guntram Borck
    INSERM U781 and Département de Génétique, Hopital Necker Enfants Malades, Paris, France
    Hum Mutat 27:731-5. 2006
  4. ncbi request reprint Molecular diagnostics of mitochondrial disorders
    Agnes 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
  5. ncbi request reprint Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations
    Guntram Borck
    INSERM U781 and Département de Génétique, Hopital Necker Enfants Malades, Paris, France
    Hum Mutat 28:205-6. 2007
  6. ncbi request reprint Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling
    Valerie 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
  7. ncbi request reprint A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti
    Julie Steffann
    Department of Genetics, Hopital Necker Enfants Malades, Paris, France
    Prenat Diagn 24:384-8. 2004
  8. pmc Myeloperoxidase promoter polymorphism -463G is associated with more severe clinical expression of cystic fibrosis pulmonary disease
    Wanda F Reynolds
    Sidney Kimmel Cancer Center, San Diego, CA 92121, USA
    Mediators Inflamm 2006:36735. 2006
  9. ncbi request reprint Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency
    Laure Thuillier
    INSERM U393, Groupe Hospitalier Necker Enfants Malades, Paris, France
    Hum Mutat 21:493-501. 2003
  10. ncbi request reprint A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency
    Marie Hélène Odièvre
    Unité Inserm U393, Hopital Necker Enfants Malades, Paris, France
    Hum Mutat 25:323-4. 2005

Collaborators

  • Agnes Rotig
  • Laurence Colleaux
  • Guntram Borck
  • Pierre Rustin
  • Josseline Kaplan
  • Brian H Robinson
  • Isabelle Sermet-Gaudelus
  • Helene Dollfus
  • Arnold Munnich
  • France Demaugre
  • B Descamps-Latscha
  • William L Nyhan
  • Valerie Cormier-Daire
  • W F Reynolds
  • Thierry Bienvenu
  • Laure Thuillier
  • Stephanie Gobin
  • Julie Steffann
  • Noman Kadhom
  • Ghislaine Royer
  • Veronique Droin
  • Jean Marie Saudubray
  • Carina Prip-Buus
  • Fatima Djouadi
  • Valerie Pelletier
  • Sophie Lebon
  • Dominique Chretien
  • Jean Michel Rozet
  • Marie Hélène Odièvre
  • Nadine Gigarel
  • Jean Louis Dufier
  • Valérie Raclin
  • Bernadette Chadefaux Vekemans
  • Delphine Feldmann
  • Jean Girard
  • Hidayeth Rostane
  • Nathalie Delphin
  • Marguerite Jambou
  • Elena Zinovieva
  • Johanna Corcos
  • Limor Minai
  • Jean Yves Pauchard
  • Olivier Roche
  • Annick Toutain
  • Valerie Serre
  • Christian Hamel
  • Morgane Stum
  • Renée Dumoulin
  • Sahben Masmoudi
  • Hayley Woffendin
  • Anne Gaëlle Grebille
  • Sue J Kenwrick
  • Smail Hadj-Rabia
  • Yves Dumez
  • Alexandra Benachi
  • Asmae Smahi
  • Martine Blayau
  • Tania Attie-Bitach
  • Viviane Dumur
  • Claude Ferec
  • Nicole Monnier
  • Sylvain Hanein
  • Dominique Bozon
  • Marie Pierre Audrezet
  • Joelle Aupetit
  • Gerwald Jogl
  • Remy Couderc
  • Herve Mittre
  • Cecile Cazeneuve
  • Albert Iron
  • Liang Tong
  • Marie Desgeorges
  • Emmanuelle Girodon
  • Marie Claire Malinge
  • Mihaiti Chi
  • Noman Khadom
  • Christine Clavel
  • Eric Bieth
  • Mireille Claustres
  • Michele Brivet
  • Jean Bastin
  • Audrey Faye
  • Claude Mugnier
  • William Wilcox
  • George Gray
  • Richard Haas
  • Stephen Cederbaum
  • Magali Ferrec
  • Anne Green

Detail Information

Publications16

  1. ncbi request reprint Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects
    Jean 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...
  2. ncbi request reprint 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
    Sophie 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...
  3. ncbi request reprint Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene
    Guntram 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...
  4. ncbi request reprint Molecular diagnostics of mitochondrial disorders
    Agnes 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...
  5. ncbi request reprint Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations
    Guntram 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...
  6. ncbi request reprint Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling
    Valerie 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
    ....
  7. ncbi request reprint A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti
    Julie Steffann
    Department of Genetics, Hopital Necker Enfants Malades, Paris, France
    Prenat Diagn 24:384-8. 2004
    ..The aim of this work was to facilitate prenatal diagnosis of IP by devising a novel test for detection of the prevalent NEMO deletion...
  8. pmc Myeloperoxidase promoter polymorphism -463G is associated with more severe clinical expression of cystic fibrosis pulmonary disease
    Wanda 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...
  9. ncbi request reprint Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency
    Laure Thuillier
    INSERM U393, Groupe Hospitalier Necker Enfants Malades, Paris, France
    Hum Mutat 21:493-501. 2003
    ....
  10. ncbi request reprint A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency
    Marie Hélène Odièvre
    Unité Inserm U393, Hopital Necker Enfants Malades, Paris, France
    Hum Mutat 25:323-4. 2005
    ....
  11. ncbi request reprint CFTR genotypes in patients with normal or borderline sweat chloride levels
    Delphine 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...
  12. ncbi request reprint Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate
    Fatima Djouadi
    INSERM U393, Hopital Necker Enfants Malades, Paris, France
    Pediatr Res 54:446-51. 2003
    ....
  13. ncbi request reprint NDP gene mutations in 14 French families with Norrie disease
    Ghislaine 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...
  14. ncbi request reprint Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach
    Bernadette Chadefaux Vekemans
    Service de Biochimie B, Groupe Hospitalier Necker Enfants Malades, Paris, France
    Prenat Diagn 23:884-7. 2003
    ....
  15. ncbi request reprint Functional and structural basis of carnitine palmitoyltransferase 1A deficiency
    Stephanie 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...
  16. ncbi request reprint Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia
    Stephanie 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...