Tuffery-Giraud S - Search Results

1

Normal and altered pre-mRNA processing in the DMD gene.

Tuffery-Giraud S, Miro J, Koenig M, Claustres M. Tuffery-Giraud S, et al. Hum Genet. 2017 Sep;136(9):1155-1172. doi: 10.1007/s00439-017-1820-9. Epub 2017 Jun 9. Hum Genet. 2017. PMID: 28597072 Review.

2

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

3

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

4

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

Tuffery-Giraud S, Béroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossée M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Khau Van Kien P, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M. Tuffery-Giraud S, et al. Hum Mutat. 2009 Jun;30(6):934-45. doi: 10.1002/humu.20976. Hum Mutat. 2009. PMID: 19367636

5

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.

Ishmukhametova A, Khau Van Kien P, Méchin D, Thorel D, Vincent MC, Rivier F, Coubes C, Humbertclaude V, Claustres M, Tuffery-Giraud S. Ishmukhametova A, et al. Eur J Hum Genet. 2012 Oct;20(10):1096-100. doi: 10.1038/ejhg.2012.51. Epub 2012 Apr 18. Eur J Hum Genet. 2012. PMID: 22510846 Free PMC article.

6

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. 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.

7

Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle.

Bougé AL, Murauer E, Beyne E, Miro J, Varilh J, Taulan M, Koenig M, Claustres M, Tuffery-Giraud S. Bougé AL, et al. Sci Rep. 2017 Jan 3;7:39094. doi: 10.1038/srep39094. Sci Rep. 2017. PMID: 28045018 Free PMC article.

8

Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay.

Miro J, Bourgeois CF, Claustres M, Koenig M, Tuffery-Giraud S. Miro J, et al. Methods Mol Biol. 2018;1687:157-169. doi: 10.1007/978-1-4939-7374-3_11. Methods Mol Biol. 2018. PMID: 29067662

9

First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene.

Miro J, Bougé AL, Murauer E, Beyne E, Da Cunha D, Claustres M, Koenig M, Tuffery-Giraud S. Miro J, et al. Among authors: tuffery giraud s. Int J Mol Sci. 2020 Oct 21;21(20):7803. doi: 10.3390/ijms21207803. Int J Mol Sci. 2020. PMID: 33096920 Free PMC article.

10

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.

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