Veronique Pingault

Summary

Country: France

Publications

  1. ncbi Review and update of mutations causing Waardenburg syndrome
    Veronique Pingault
    Inserm Unite U955, Département de génétique, Laboratoire de Biochimie et Génétique, Hopital Henri Mondor, Creteil, France
    Hum Mutat 31:391-406. 2010
  2. ncbi Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2
    Viviane Baral
    INSERM, U955, equipe11, Creteil, France
    PLoS ONE 7:e41927. 2012
  3. ncbi Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
    Nadege Bondurand
    INSERM U841, Institut Mondor de Recherche Biomedicale, Département de génétique, Universite Paris 12, Paris, France
    Am J Hum Genet 81:1169-85. 2007
  4. ncbi Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development
    Laure Stanchina
    INSERM, U654, Bases moléculaires et cellulaires des maladies génétiques, Hopital Henri Mondor, Creteil, F 94000, France Université Paris 12, Faculte de Medecine, IFR10, Creteil, F 94000, France
    Dev Biol 295:232-49. 2006
  5. ncbi Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4
    Nadege Bondurand
    INSERM, U955, equipe11, Hopital Henri Mondor, Creteil, France
    Eur J Hum Genet 20:990-4. 2012
  6. ncbi Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome
    Asma Chaoui
    INSERM U955, Hopital Henri Mondor, Creteil, France
    Hum Mutat 32:1436-49. 2011
  7. ncbi SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism
    Veronique Pingault
    INSERM U468, Génétique Moléculaire et Physiopathologie, and Laboratoire de Biochimie, Hopital Henri Mondor, 94010 Creteil Cedex, France
    Hum Genet 111:198-206. 2002

Collaborators

Detail Information

Publications7

  1. ncbi Review and update of mutations causing Waardenburg syndrome
    Veronique Pingault
    Inserm Unite U955, Département de génétique, Laboratoire de Biochimie et Génétique, Hopital Henri Mondor, Creteil, France
    Hum Mutat 31:391-406. 2010
    ..In this review we provide an update on all WS genes and set up mutation databases, summarize molecular and functional data available for each of them, and discuss the applications in diagnostics and genetic counseling...
  2. ncbi Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2
    Viviane Baral
    INSERM, U955, equipe11, Creteil, France
    PLoS ONE 7:e41927. 2012
    ..Functional analyses argued against a pathogenic effect of these variations, suggesting that mutations within regulatory elements of WS genes are not a major cause of this neurocristopathy...
  3. ncbi Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
    Nadege Bondurand
    INSERM U841, Institut Mondor de Recherche Biomedicale, Département de génétique, Universite Paris 12, Paris, France
    Am J Hum Genet 81:1169-85. 2007
    ..This study further characterizes the molecular complexity and the close relationship that links the different subtypes of WS...
  4. ncbi Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development
    Laure Stanchina
    INSERM, U654, Bases moléculaires et cellulaires des maladies génétiques, Hopital Henri Mondor, Creteil, F 94000, France Université Paris 12, Faculte de Medecine, IFR10, Creteil, F 94000, France
    Dev Biol 295:232-49. 2006
    ..These data will contribute to the understanding of the molecular basis of ENS, pigmentation and hearing defects observed in mouse mutants and patients carrying SOX10, EDN3 and EDNRB mutations...
  5. ncbi Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4
    Nadege Bondurand
    INSERM, U955, equipe11, Hopital Henri Mondor, Creteil, France
    Eur J Hum Genet 20:990-4. 2012
    ..This opens up new routes to the molecular dissection of neural crest disorders...
  6. ncbi Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome
    Asma Chaoui
    INSERM U955, Hopital Henri Mondor, Creteil, France
    Hum Mutat 32:1436-49. 2011
    ..Whether this phenomenon is a cause or a consequence of mutation-associated pathogenicity remains to be determined, but this observation could help to identify new SOX10 modes of action...
  7. ncbi SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism
    Veronique Pingault
    INSERM U468, Génétique Moléculaire et Physiopathologie, and Laboratoire de Biochimie, Hopital Henri Mondor, 94010 Creteil Cedex, France
    Hum Genet 111:198-206. 2002
    ..These results show that chronic intestinal pseudo-obstruction may be a manifestation associated with WS, and indicate that aganglionosis is not the only mechanism underlying the intestinal dysfunction of patients with SOX10 mutations...