V
Veronique Pingault
Researcher at Necker-Enfants Malades Hospital
Publications - 56
Citations - 4449
Veronique Pingault is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Waardenburg syndrome & SOX10. The author has an hindex of 25, co-authored 48 publications receiving 4091 citations. Previous affiliations of Veronique Pingault include Paris 12 Val de Marne University & University of Paris.
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Journal ArticleDOI
SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
Veronique Pingault,Nadege Bondurand,Kirsten Kuhlbrodt,Derk E. Goerich,Marie Odette Préhu,Aldamaria Puliti,Beate Herbarth,Irm Hermans-Borgmeyer,Eric Legius,Gert Matthijs,Jeanne Amiel,Stanislas Lyonnet,Isabella Ceccherini,Giovanni Romeo,Jill Clayton Smith,Andrew P Read,Michael Wegner,Michel Goossens +17 more
TL;DR: It is shown that patients from four families with WS4 have mutations in SOx10, whereas no mutation could be detected in patients with HSCR alone, and this point to an essential role ofSOx10 in the development of two neural crest-derived human cell lineages.
Journal ArticleDOI
Review and update of mutations causing Waardenburg syndrome.
Veronique Pingault,Dorothée Ente,Florence Dastot-Le Moal,Michel Goossens,Sandrine Marlin,Nadege Bondurand +5 more
TL;DR: An update on all WS genes and set up mutation databases are provided, molecular and functional data available for each of them are summarized, and the applications in diagnostics and genetic counseling are discussed.
Journal ArticleDOI
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome
Nadege Bondurand,Veronique Pingault,Derk E. Goerich,N. Lemort,Elisabeth Sock,Cédric Le Caignec,Michael Wegner,Michel Goossens +7 more
TL;DR: In situ hybridization experiments carried out in the dominant megacolon mouse, confirmed that SOX10 dysfunction impairs MITF: expression as well as melanocytic development and survival, which could explain the auditory-pigmentary symptoms of this disease.
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Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease
Beate Herbarth,Veronique Pingault,Nadege Bondurand,Kirsten Kuhlbrodt,Irm Hermans-Borgmeyer,Aldamaria Puliti,N. Lemort,Michel Goossens,Michael Wegner +8 more
TL;DR: The transcriptional regulator Sox10 is identified as an essential factor in mouse neural crest development and as a further candidate gene for human Hirschsprung disease, especially in cases where it is associated with features of Waardenburg syndrome.
Journal ArticleDOI
Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4
Nadege Bondurand,Nadege Bondurand,Florence Dastot-Le Moal,Laure Stanchina,Laure Stanchina,Nathalie Collot,Viviane Baral,Viviane Baral,Sandrine Marlin,Tania Attié-Bitach,Irina Giurgea,Irina Giurgea,Laurent Skopinski,William Reardon,Annick Toutain,Pierre Sarda,Anis Echaieb,Marilyn Lackmy-Port-Lis,Renaud Touraine,Jeanne Amiel,Michel Goossens,Michel Goossens,Veronique Pingault,Veronique Pingault +23 more
TL;DR: This study characterizes the molecular complexity and the close relationship that links the different subtypes of WS and describes the first characterization of SOX10 deletions in patients presenting with WS4, makingSOX10 a new gene of WS2.