Jean‐Pierre Hardelin

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

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

Renaud Legouis, Jean‐Pierre Hardelin, Jacqueline Levilliers et al. · Cell · 1991 · 682 citations

X-linked Kallmann Syndrome, Molecular Physiology, Mendelian Disorder +12

KCNQ4, a K ⁺ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway

Tatjana Kharkovets, Jean‐Pierre Hardelin, Saaïd Safieddine et al. · Proceedings of the National Academy of Sciences · 2000 · 402 citations · Full text

Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model

Omar Akil, Frank M. Dyka, Charlotte Calvet et al. · Proceedings of the National Academy of Sciences · 2019 · 277 citations · Full text

A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth

G. Lefèvre, Vincent Michel, Dominique Weil et al. · Development · 2008 · 211 citations · Full text

Genetics, Molecular Genetics, Cytoskeleton +20