Bruno Costes

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.

Harry Cuppens, Wen‐chang Lin, Martine Jaspers et al. · Journal of Clinical Investigation · 1998 · 392 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Molecular characterization of cystic fibrosis: 16 Novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

Pascale Fanen, Nada Ghanem, Michel Vidaud et al. · Genomics · 1992 · 267 citations

Life Sciences, Genetics, Molecular Genetics +14

Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness

Thibaud Damy, Bruno Costes, Albert Hagège et al. · European Heart Journal · 2015 · 243 citations · Full text

Medicine, Cardiology, Genetics +11

Frequent Occurrence of the CFTRIntron 8 (TG)n 5T Allele in Men withCongenital Bilateral Absence of the Vas Deferens

Bruno Costes, E. Girodon, N. Ghanem et al. · European Journal of Human Genetics · 1995 · 150 citations

Medicine, Genetics, Molecular Genetics +13

CFTR Gene Mutations in Adults with Disseminated Bronchiectasis

Emmanuelle Girodon, Cécile Cazeneuve, François Lebargy et al. · European Journal of Human Genetics · 1997 · 150 citations

Medicine, Genetics, Molecular Genetics +13