Sylvie Chambert

Pseudoexon activation in theDMD gene as a novel mechanism for Becker muscular dystrophy

Sylvie Tuffery‐Giraud, C�line Saquet, Sylvie Chambert et al. · Human Mutation · 2003 · 82 citations

Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects

Sylvie Tuffery‐Giraud, Sylvie Chambert, Jacques Demaille et al. · Human Mutation · 1999 · 53 citations

Dystrophin Gene, Point Mutations, Splice Donor +14

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

Sylvie Tuffery‐Giraud, Céline Saquet, Sylvie Chambert et al. · Neuromuscular Disorders · 2004 · 42 citations

National Referral Centre, Urology, Muscle Biopsy +7

Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test

Sylvie Tuffery‐Giraud, Sylvie Chambert, Corinne Bareil et al. · Human Genetics · 1998 · 30 citations

Mendelian Disorder, Southern French Dmd, Genetic Disorder +9