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

Splice Site Junctions, Molecular Physiology, Genetic Disorder +9

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 · 136 citations

Somatic Variant, Rb1 Gene, Genetic Disorder +10

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

Inflammatory Lung Disease, Lung Inflammation, Immunodeficiencies +21

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

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 · 89 citations