Dominique Hamel‐Teillac

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

Netherton Syndrome: Disease Expression and Spectrum of SPINK5 Mutations in 21 Families

Emmanuelle Bitoun, Stéphane Chavanas, Alan D. Irvine et al. · Journal of Investigative Dermatology · 2002 · 212 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

Clinical Study of 40 Cases of Incontinentia Pigmenti

S. Hadj‐Rabia, David Froidevaux, N. Bodak et al. · Archives of Dermatology · 2003 · 199 citations

Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome

Susan Kenwrick, Hayley Woffendin, Tracy Jakins et al. · The American Journal of Human Genetics · 2001 · 178 citations · Full text

Infertility, Andrology, Urology +12