Brigitte Nédelec

A candidate gene for familial Mediterranean fever

Alain Bernot, Christian Clépet, Corinne Da Silva et al. · Nature Genetics · 1997 · 1.5K citations

Life Sciences, Genetics, Molecular Genetics +7

MEFV-Gene Analysis in Armenian Patients with Familial Mediterranean Fever: Diagnostic Value and Unfavorable Renal Prognosis of the M694V Homozygous Genotype—Genetic and Therapeutic Implications

Cécile Cazeneuve, Tamara Sarkisian, Christophe Pécheux et al. · The American Journal of Human Genetics · 1999 · 259 citations · Full text

Medicine, Genetics, Molecular Genetics +8

Hereditary Systemic Amyloidosis Due to Asp76Asn Variant β₂-Microglobulin

Sophie Valleix, Julian D. Gillmore, Frank Bridoux et al. · New England Journal of Medicine · 2012 · 188 citations · Full text

Life Sciences, Biochemistry, Neurology +16

Homozygous Nonsense Mutation in the FOXE3 Gene as a Cause of Congenital Primary Aphakia in Humans

Sophie Valleix, Florence Niel, Brigitte Nédelec et al. · The American Journal of Human Genetics · 2006 · 101 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile

Sophie Valleix, Guglielmo Verona, Noémie Jourde‐Chiche et al. · Nature Communications · 2016 · 65 citations · Full text

Medicine, Genetics, Molecular Genetics +16