Jacques Loiselet

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

Haplotype Diversity and Linkage Disequilibrium at Human <i>G6PD</i> : Recent Origin of Alleles That Confer Malarial Resistance

Sarah A. Tishkoff, Robert Varkonyi, Nelie Cahinhinan et al. · Science · 2001 · 624 citations

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

Shin’ichiro Yasunaga, M’hamed Grati, Martine Cohen‐Salmon et al. · Nature Genetics · 1999 · 575 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

Stephen Baghdiguian, Marianne Martin, Isabelle Richard et al. · Nature Medicine · 1999 · 275 citations

Signal Transduction, Molecular Physiology, Skeletal Muscle +12

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22

Ingrid Zwaenepoel, Mirna Mustapha, Michel Leibovici et al. · Proceedings of the National Academy of Sciences · 2002 · 182 citations · Full text

Otorhinolaryngology, Molecular Biology, Neurotology +20