Y. De Prost

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

Stéphane Chavanas, Christine Bodemer, Ariane Rochat et al. · Nature Genetics · 2000 · 838 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease

S. Hadj‐Rabia, Lekbir Baala, P. Vabres et al. · Gastroenterology · 2004 · 411 citations · Full text

Claudin-1 Gene Mutations, Genetics, Pathogenesis +6

Efficacy and Safety of Pimecrolimus Cream in the Long-Term Management of Atopic Dermatitis in Children

Ulrich Wahn, Jan D. Bos, Mark Goodfield et al. · PEDIATRICS · 2002 · 402 citations

Pediatric Mastocytosis Is a Clonal Disease Associated with D816V and Other Activating c-KIT Mutations

Christine Bodemer, Olivier Hermine, Fabienne Palmérini et al. · Journal of Investigative Dermatology · 2009 · 386 citations

Pediatric Mastocytosis, Genetic Disorder, Mast Cell Disorder +8

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

Céline Cluzeau, S. Hadj‐Rabia, Marguerite Jambou et al. · Human Mutation · 2010 · 312 citations · Full text