Jean‐Paul Bonnefont

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Agnès Rötig, Stéphane Blanche, Jean‐Paul Bonnefont et al. · Journal of Clinical Investigation · 1990 · 469 citations · Full text

Genetics, Genetic Epidemiology, Pathology +16

Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

Isabelle Valnot, Sandrine Osmond, Nadine Gigarel et al. · The American Journal of Human Genetics · 2000 · 353 citations · Full text

Hepatology, Mitochondrial Function, Biochemistry +11

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

Céline Cluzeau, S. Hadj‐Rabia, Marguerite Jambou et al. · Human Mutation · 2010 · 312 citations · Full text

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.

Pascale de Lonlay, Jean Fournet, Jacques Rahier et al. · Journal of Clinical Investigation · 1997 · 304 citations · Full text

Somatic Deletion, Developmental Biology, Pancreatic Cancer +15

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Mireille Claustres, Caroline Guittard, Dominique Bozon et al. · Human Mutation · 2000 · 250 citations