Claudine Blanchet-Bardon

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Featured researches published by Claudine Blanchet-Bardon.

Human Molecular Genetics | 2003

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

Caroline Lefèvre; Stéphanie Audebert; Florence Jobard; Bakar Bouadjar; Hakima Lakhdar; Omar Boughdene-Stambouli; Claudine Blanchet-Bardon; Roland Heilig; Mario Foglio; Jean Weissenbach; Mark Lathrop; Jean-François Prud'homme; Judith Fischer

Nature Genetics | 2000

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Jérôme Lamartine; Guilherme Munhoz Essenfelder; Zoha Kibar; Isabelle Lanneluc; Edwige Callouet; Dalila Laoudj; Gilles Lemaitre; Colette Hand; Susan J. Hayflick; Jonathan Zonana; Uppala Radhakrishna; David P. Kelsell; Arnold L. Christianson; Amandine Pitaval; Vazken M. Der Kaloustian; Clarke Fraser; Claudine Blanchet-Bardon; Guy A. Rouleau

Human Molecular Genetics | 2004

Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity

Guilherme Munhoz Essenfelder; Roberto Bruzzone; Jérôme Lamartine; Anne Charollais; Claudine Blanchet-Bardon; Michael T. Barbe; Paolo Meda

Nature Genetics | 1993

A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa

Latifa Hilal; Ariane Rochat; Philippe Duquesnoy; Claudine Blanchet-Bardon; Janine Wechsler; Nadine Martin; Angela M. Christiano; Yann Barrandon; Jouni Uitto; Michel Goossens; Alain Hovnanian

Nature Genetics | 1994

Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer

D. Torchard; Claudine Blanchet-Bardon; Olga Serova; Lutz Langbein; Steven A. Narod; N. Janin; A. F. Goguel; A. Bernheim; W. W. Franke; Gilbert M. Lenoir; Jean Feunteun

Journal of Investigative Dermatology | 1995

DNA-Based Prenatal Diagnosis of Generalized Recessive Dystrophic Epidermolysis Bullosa in Six Pregnancies at Risk for Recurrence

Alain Hovnanian; Latifa Hilal; Claudine Blanchet-Bardon; C. Bodemer; Yves de Prost; Caroline A. Stark; Angela M. Christiano; Marc Dommergues; Joseph D. Terwilliger; Luis Izquierdo; Patricia Conteville; Yves Dumez; Jouni Uitto; Michel Goossens

Journal of Investigative Dermatology | 1997

Predominance of the Recurrent Mutation R635X in the LAMB3 Gene in European Patients with Herlitz Junctional Epidermolysis Bullosa Has Implications for Mutation Detection Strategy

Leena Pulkkinen; Guerrino Meneguzzi; John A. McGrath; Yili Xu; Claudine Blanchet-Bardon; Jean-Paul Ortonne; Angela M. Christiano; Jouni Uitto

Prenatal Diagnosis | 2000

Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk

Catherine Lépinard; Philippe Descamps; Guerrino Meneguzzi; Claudine Blanchet-Bardon; Dominique P. Germain; Luc Larget‐Piet; Frédérique Beringue; Colette Berchel; Françoise Muller; Yves Dumez

Journal of Investigative Dermatology | 2001

Novel Point Mutations, Deletions, and Polymorphisms in the Cathepsin C Gene in Nine Families from Europe and North Africa with Papillon–Lefèvre Syndrome

Claudine Blanchet-Bardon; Bakar Bouadjar; Jean-François Stalder; Susan Cure; Jean-François Prud'homme; Caroline Lefèvre; Florence Jobard; Aude Hoffmann; Judith Fischer

Archives of Dermatology | 2012