Claude Besmond

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

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma

Véronique Blanquet, C Turleau, Marie Sylvie Gross-Morand et al. · Human Molecular Genetics · 1995 · 137 citations

Life Sciences, Genetics, Molecular Genetics +17

Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: cohort study

Martine Gabolde, M Guilloud-Bataille, J Feingold et al. · BMJ · 1999 · 104 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

Metodi D. Metodiev, S. Gerber, Laurence Hubert et al. · Journal of Medical Genetics · 2014 · 93 citations

Life Sciences, Genetics, Molecular Genetics +17

Molecular cloning of cDNA for rat L-type pyruvate kinase and aldolase B.

Marie‐Pierre Simon, Claude Besmond, Dominique Cottreau et al. · Journal of Biological Chemistry · 1983 · 90 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +10