Claustres M - Search Results

1

First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population.

Frédéric M, Lucarz E, Monino C, Saquet C, Thorel D, Claustres M, Tuffery-Giraud S, Collod-Béroud G. Frédéric M, et al. Among authors: claustres m. Mov Disord. 2007 Apr 30;22(6):884-8. doi: 10.1002/mds.21391. Mov Disord. 2007. PMID: 17290457

2

[Genotypic diagnosis of Duchenne and Becker muscular dystrophies].

Tuffery-Giraud S, Chambert S, Demaille J, Claustres M. Tuffery-Giraud S, et al. Among authors: claustres m. Ann Biol Clin (Paris). 1999 Jul-Aug;57(4):417-26. Ann Biol Clin (Paris). 1999. PMID: 10432364 Free article. Review. French.

3

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

Tuffery-Giraud S, Chambert S, Demaille J, Claustres M. Tuffery-Giraud S, et al. Among authors: claustres m. Hum Mutat. 1999;14(5):359-68. doi: 10.1002/(SICI)1098-1004(199911)14:5<359::AID-HUMU1>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10533061

4

BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies.

Schmitt-Bernard CF, Guittard C, Arnaud B, Demaille J, Argiles A, Claustres M, Tuffery-Giraud S. Schmitt-Bernard CF, et al. Among authors: claustres m. Invest Ophthalmol Vis Sci. 2000 May;41(6):1302-8. Invest Ophthalmol Vis Sci. 2000. PMID: 10798644

5

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay.

Faugère V, Tuffery-Giraud S, Hamel C, Claustres M. Faugère V, et al. Among authors: claustres m. BMC Genet. 2003 Jan 7;4:1. doi: 10.1186/1471-2156-4-1. Epub 2003 Jan 7. BMC Genet. 2003. PMID: 12515581 Free PMC article.

6

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.

Tuffery-Giraud S, Saquet C, Chambert S, Claustres M. Tuffery-Giraud S, et al. Among authors: claustres m. Hum Mutat. 2003 Jun;21(6):608-14. doi: 10.1002/humu.10214. Hum Mutat. 2003. PMID: 12754707

7

[Movement disorders in childhood: classification and genetic update].

Roubertie A, Rivier F, Tuffery-Giraud S, Humbertclaude V, Claustres M, Cheminal R, Echenne B. Roubertie A, et al. Among authors: claustres m. Arch Pediatr. 2003 Nov;10(11):994-1002. doi: 10.1016/j.arcped.2003.07.003. Arch Pediatr. 2003. PMID: 14613695 Review. French.

8

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: claustres m. Neuromuscul Disord. 2004 Oct;14(10):650-8. doi: 10.1016/j.nmd.2004.05.002. Neuromuscul Disord. 2004. PMID: 15351422

9

A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).

Disset A, Michot C, Harris A, Buratti E, Claustres M, Tuffery-Giraud S. Disset A, et al. Among authors: claustres m. Hum Mutat. 2005 Jan;25(1):72-81. doi: 10.1002/humu.20115. Hum Mutat. 2005. PMID: 15580565

10

High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.

des Georges M, Guittard C, Altiéri JP, Templin C, Sarles J, Sarda P, Claustres M. des Georges M, et al. Among authors: claustres m. J Cyst Fibros. 2004 Dec;3(4):265-72. doi: 10.1016/j.jcf.2004.04.008. J Cyst Fibros. 2004. PMID: 15698946 Free article.

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