Tosi M - Search Results

1

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.

Vezain M, Gérard B, Drunat S, Funalot B, Fehrenbach S, N'Guyen-Viet V, Vallat JM, Frébourg T, Tosi M, Martins A, Saugier-Veber P. Vezain M, et al. Among authors: tosi m. Hum Mutat. 2011 Sep;32(9):989-94. doi: 10.1002/humu.21528. Hum Mutat. 2011. PMID: 21542063

2

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.

Vezain M, Saugier-Veber P, Melki J, Toutain A, Bieth E, Husson M, Pedespan JM, Viollet L, Pénisson-Besnier I, Fehrenbach S, Bou J, Frébourg T, Tosi M. Vezain M, et al. Among authors: tosi m. Eur J Hum Genet. 2007 Oct;15(10):1054-62. doi: 10.1038/sj.ejhg.5201885. Epub 2007 Jul 4. Eur J Hum Genet. 2007. PMID: 17609673

3

A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

Tournier I, Vezain M, Martins A, Charbonnier F, Baert-Desurmont S, Olschwang S, Wang Q, Buisine MP, Soret J, Tazi J, Frébourg T, Tosi M. Tournier I, et al. Among authors: tosi m. Hum Mutat. 2008 Dec;29(12):1412-24. doi: 10.1002/humu.20796. Hum Mutat. 2008. PMID: 18561205

4

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy.

Vezain M, Saugier-Veber P, Goina E, Touraine R, Manel V, Toutain A, Fehrenbach S, Frébourg T, Pagani F, Tosi M, Martins A. Vezain M, et al. Among authors: tosi m. Hum Mutat. 2010 Jan;31(1):E1110-25. doi: 10.1002/humu.21173. Hum Mutat. 2010. PMID: 19953646

5

Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.

Di Giacomo D, Gaildrat P, Abuli A, Abdat J, Frébourg T, Tosi M, Martins A. Di Giacomo D, et al. Among authors: tosi m. Hum Mutat. 2013 Nov;34(11):1547-57. doi: 10.1002/humu.22428. Epub 2013 Sep 18. Hum Mutat. 2013. PMID: 23983145

6

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments.

Casilli F, Di Rocco ZC, Gad S, Tournier I, Stoppa-Lyonnet D, Frebourg T, Tosi M. Casilli F, et al. Among authors: tosi m. Hum Mutat. 2002 Sep;20(3):218-26. doi: 10.1002/humu.10108. Hum Mutat. 2002. PMID: 12203994

7

Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method.

Tournier I, Raux G, Di Fiore F, Maréchal I, Leclerc C, Martin C, Wang Q, Buisine MP, Stoppa-Lyonnet D, Olschwang S, Frébourg T, Tosi M. Tournier I, et al. Among authors: tosi m. Hum Mutat. 2004 Apr;23(4):379-84. doi: 10.1002/humu.20008. Hum Mutat. 2004. PMID: 15024732

8

Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.

Dumanchin C, Tournier I, Martin C, Didic M, Belliard S, Carlander B, Rouhart F, Duyckaerts C, Pellissier JF, Latouche JB, Hannequin D, Frebourg T, Tosi M, Campion D. Dumanchin C, et al. Among authors: tosi m. Hum Mutat. 2006 Oct;27(10):1063. doi: 10.1002/humu.9458. Hum Mutat. 2006. PMID: 16941492

9

The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.

Gaildrat P, Krieger S, Théry JC, Killian A, Rousselin A, Berthet P, Frébourg T, Hardouin A, Martins A, Tosi M. Gaildrat P, et al. Among authors: tosi m. J Med Genet. 2010 Jun;47(6):398-403. doi: 10.1136/jmg.2009.074047. J Med Genet. 2010. PMID: 20522429 Free article.

10

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.

Gaildrat P, Killian A, Martins A, Tournier I, Frébourg T, Tosi M. Gaildrat P, et al. Among authors: tosi m. Methods Mol Biol. 2010;653:249-57. doi: 10.1007/978-1-60761-759-4_15. Methods Mol Biol. 2010. PMID: 20721748 Review.

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