Catherine Dodé

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

Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

Françoise Denoyelle, Dominique Weil, Marion A. Maw et al. · Human Molecular Genetics · 1997 · 635 citations · Full text

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats

David C. Rubinsztein, Jayne Leggo, Rhian Coles et al. · SPIRE - Sciences Po Institutional REpository · 1996 · 468 citations

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

Catherine Dodé, Luís Teixeira, Jacqueline Levilliers et al. · PLoS Genetics · 2006 · 451 citations · Full text

Kallmann Syndrome Combines, Human Growth, Genetics +21

Infevers: An evolving mutation database for auto-inflammatory syndromes

Isabelle Touitou, Suzanne Lesage, Michael McDermott et al. · Human Mutation · 2004 · 316 citations