Claustres M - Search Results

1

FUBP1: a new protagonist in splicing regulation of the DMD gene.

Miro J, Laaref AM, Rofidal V, Lagrafeuille R, Hem S, Thorel D, Méchin D, Mamchaoui K, Mouly V, Claustres M, Tuffery-Giraud S. Miro J, et al. Among authors: claustres m. Nucleic Acids Res. 2015 Feb 27;43(4):2378-89. doi: 10.1093/nar/gkv086. Epub 2015 Feb 6. Nucleic Acids Res. 2015. PMID: 25662218 Free PMC article.

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

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

8

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

9

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. Among authors: claustres m. Eur J Hum Genet. 2005 Dec;13(12):1254-60. doi: 10.1038/sj.ejhg.5201478. Eur J Hum Genet. 2005. PMID: 16077730

10

Binding of serum response factor to cystic fibrosis transmembrane conductance regulator CArG-like elements, as a new potential CFTR transcriptional regulation pathway.

René C, Taulan M, Iral F, Doudement J, L'Honoré A, Gerbon C, Demaille J, Claustres M, Romey MC. René C, et al. Among authors: claustres m. Nucleic Acids Res. 2005 Sep 16;33(16):5271-90. doi: 10.1093/nar/gki837. Print 2005. Nucleic Acids Res. 2005. PMID: 16170155 Free PMC article.

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