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The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.
Tuffery-Giraud S, Saquet C, Chambert S, Echenne B, Marie Cuisset J, Rivier F, Cossée M, Philippe C, Monnier N, Bieth E, Recan D, Antoinette Voelckel M, Perelman S, Lambert JC, Malcolm S, Claustres M. Tuffery-Giraud S, et al. Among authors: chambert s. Neuromuscul Disord. 2004 Oct;14(10):650-8. doi: 10.1016/j.nmd.2004.05.002. Neuromuscul Disord. 2004. PMID: 15351422
[Genotypic diagnosis of Duchenne and Becker muscular dystrophies].
Tuffery-Giraud S, Chambert S, Demaille J, Claustres M. Tuffery-Giraud S, et al. Among authors: chambert s. Ann Biol Clin (Paris). 1999 Jul-Aug;57(4):417-26. Ann Biol Clin (Paris). 1999. PMID: 10432364 Free article. Review. French.
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%.
Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M; French Usher Syndrome Collaboration. Roux AF, et al. Among authors: chambert s. J Med Genet. 2006 Sep;43(9):763-8. doi: 10.1136/jmg.2006.041954. Epub 2006 May 5. J Med Genet. 2006. PMID: 16679490 Free PMC article.
[RNA isolation and purification methods].
Bastard JP, Chambert S, Ceppa F, Coude M, Grapez E, Loric S, Muzeau F, Spyratos F, Poirier K, Copois V, Tse C, Bienvenu T; Groupe de travail de la SFBC. Bastard JP, et al. Among authors: chambert s. Ann Biol Clin (Paris). 2002 Sep-Oct;60(5):513-23. Ann Biol Clin (Paris). 2002. PMID: 12368137 Free article. Review. French.
36 results