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Sylvie Chambert

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Chemicals & Drugs

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Anne-Françoise Roux; Valérie Faugère; S Le Guédard; Nathalie Pallares-Ruiz; Anne Vielle; Sylvie Chambert; S Marlin; Christian Hamel; B Gilbert; Sue Malcolm; Mireille Claustres
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Sylvie Tuffery-Giraud; Céline Saquet; Sylvie Chambert; Bernard Echenne; Jean Marie Cuisset; François Rivier; Mireille Cossée; Christophe Philippe; Nicole Monnier; Eric Bieth; Dominique Recan; Marie Antoinette Voelckel; Serge Perelman; Jean-Claude Lambert; Sue Malcolm; Mireille Claustres
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; Mireille Claustres
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.

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All Publications

2006: Anne-Françoise Roux; Valérie Faugère; S Le Guédard; Nathalie Pallares-Ruiz; Anne Vielle; Sylvie Chambert; S Marlin; Christian Hamel; B Gilbert; Sue Malcolm; Mireille Claustres
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Journal of medical genetics 2006;43(9):763-8.
2004: Sylvie Tuffery-Giraud; Céline Saquet; Sylvie Chambert; Bernard Echenne; Jean Marie Cuisset; François Rivier; Mireille Cossée; Christophe Philippe; Nicole Monnier; Eric Bieth; Dominique Recan; Marie Antoinette Voelckel; Serge Perelman; Jean-Claude Lambert; Sue Malcolm; Mireille Claustres
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.
Neuromuscular disorders : NMD 2004;14(10):650-8.
2003: Sylvie Tuffery-Giraud; Céline Saquet; Sylvie Chambert; Mireille Claustres
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.
Human mutation 2003;21(6):608-14.
1999: Sylvie Tuffery-Giraud; Sylvie Chambert; Jacques Demaille; Mireille Claustres
[Genotypic diagnosis of Duchenne and Becker muscular dystrophies].
Annales de biologie clinique 1999;57(4):417-26.
1999: Sylvie Tuffery-Giraud; Sylvie Chambert; Jacques Demaille; Mireille Claustres
Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects.
Human mutation 1999;14(5):359-68.
1998: Sylvie Tuffery; Sylvie Chambert; Corinne Bareil; Pierre Sarda; Christine Coubes; Bernard Echenne; Jacques Demaille; Mireille Claustres
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.
Human genetics 1998;102(3):334-42.