Nathalie Le Dû

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

Catherine Dodé, Jacqueline Levilliers, Jean‐Michel Dupont et al. · Nature Genetics · 2003 · 825 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +3

New Mutations of CIAS1 That Are Responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A Novel Mutation Underlies Both Syndromes

Catherine Dodé, Nathalie Le Dû, Laurence Cuisset et al. · The American Journal of Human Genetics · 2002 · 298 citations · Full text

Muckle-wells Syndrome, New Mutations, Mendelian Disorder +7

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

Valérie Bélien, Marion Gérard‐Blanluet, Stéphane Serero et al. · American Journal of Medical Genetics Part A · 2008 · 17 citations