Tuffery-Giraud S - Search Results

1

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. Hum Mutat. 2003 Jun;21(6):608-14. doi: 10.1002/humu.10214. Hum Mutat. 2003. PMID: 12754707

2

[Genotypic diagnosis of Duchenne and Becker muscular dystrophies].

Tuffery-Giraud S, Chambert S, Demaille J, Claustres M. Tuffery-Giraud S, et al. Ann Biol Clin (Paris). 1999 Jul-Aug;57(4):417-26. Ann Biol Clin (Paris). 1999. PMID: 10432364 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. 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. 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. 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

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

7

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. Hum Mutat. 2005 Jan;25(1):72-81. doi: 10.1002/humu.20115. Hum Mutat. 2005. PMID: 15580565

8

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.

Tuffery-Giraud S, Saquet C, Thorel D, Disset A, Rivier F, Malcolm S, Claustres M. Tuffery-Giraud S, et al. Eur J Hum Genet. 2005 Dec;13(12):1254-60. doi: 10.1038/sj.ejhg.5201478. Eur J Hum Genet. 2005. PMID: 16077730

9

An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.

Disset A, Bourgeois CF, Benmalek N, Claustres M, Stevenin J, Tuffery-Giraud S. Disset A, et al. Hum Mol Genet. 2006 Mar 15;15(6):999-1013. doi: 10.1093/hmg/ddl015. Epub 2006 Feb 6. Hum Mol Genet. 2006. PMID: 16461336

10

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.

Béroud C, Tuffery-Giraud S, Matsuo M, Hamroun D, Humbertclaude V, Monnier N, Moizard MP, Voelckel MA, Calemard LM, Boisseau P, Blayau M, Philippe C, Cossée M, Pagès M, Rivier F, Danos O, Garcia L, Claustres M. Béroud C, et al. Hum Mutat. 2007 Feb;28(2):196-202. doi: 10.1002/humu.20428. Hum Mutat. 2007. PMID: 17041910

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