Françoise Chevalier‐Porst

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?

Mireille Claustres, Jean-Pierre Altiéri, Caroline Guittard et al. · BMC Medical Genetics · 2004 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutation analysis in 24 French patients with glycogen storage disease type 1a.

Françoise Chevalier‐Porst, Dominique Bozon, A M Bonardot et al. · Journal of Medical Genetics · 1996 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutation analysis in 600 French cystic fibrosis patients.

Françoise Chevalier‐Porst, A M Bonardot, R Gilly et al. · Journal of Medical Genetics · 1994 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Enzymatic characterization of four new mutations in the glucose‐6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a

N Bruni, Fabienne Rajas, Skyla Montano et al. · Annals of Human Genetics · 1999 · 27 citations · Full text

Life Sciences, Biochemistry, Genetics +14

False‐positive results in neonatal screening for cystic fibrosis based on a three‐stage protocol (IRT/DNA/IRT): Should we adjust IRT cut‐off to ethnic origin?

David Cheillan, M Vercherat, Françoise Chevalier‐Porst et al. · Journal of Inherited Metabolic Disease · 2005 · 27 citations

Medicine, Child Health, Pediatrics +12