Search - Inserm - Institut national de la santé et de la recherche médicale Access content directly

Filter your results

6 Results
authFullName_s : Véronique Pingault
Image document

Review and update of mutations causing Waardenburg syndrome.

Véronique Pingault , Dorothée Ente , Florence Dastot-Le Moal , Michel Goossens , Sandrine Marlin , et al.
Human Mutation, 2010, 31 (4), pp.391-406. ⟨10.1002/humu.21211⟩
Journal articles inserm-00483195v1
Image document

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

Nadège Bondurand , Florence Dastot-Le Moal , Laure Stanchina , Nathalie Collot , Viviane Baral , et al.
American Journal of Human Genetics, 2007, 81 (6), pp.1169-85. ⟨10.1086/522090⟩
Journal articles inserm-00196715v1
Image document

LKB1 specifies neural crest cell fates through pyruvate-alanine cycling

Anca Radu , Sakina Torch , Florence Fauvelle , Karin Pernet-Gallay , Anthony Lucas , et al.
Science Advances , 2019, 5 (7), pp.eaau5106. ⟨10.1126/sciadv.aau5106⟩
Journal articles hal-02328640v1
Image document

Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

Asma Chaoui , Yuli Watanabe , Renaud Touraine , Viviane Baral , Michel Goossens , et al.
Human Mutation, 2011, 32 (12), pp.1436-49. ⟨10.1002/humu.21583⟩
Journal articles istex inserm-00655828v1
Image document

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

Sandy Léger , Xavier Balguerie , Alice Goldenberg , Valérie Drouin-Garraud , Annick Cabot , et al.
European Journal of Human Genetics, 2012, 20 (5), pp.584-7. ⟨10.1038/ejhg.2011.234⟩
Journal articles inserm-00696260v1

A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis

Eve Mousty , Sarah Issa , Frédéric Grosjean , Jean-Yves Col , Philippe Khau van Kien , et al.
Prenatal Diagnosis, 2015, 35 (13), pp.1379-1381. ⟨10.1002/pd.4703⟩
Journal articles istex hal-03579374v1