Frébourg T - Search Results

1

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: frebourg t. Methods Mol Biol. 2010;653:249-57. doi: 10.1007/978-1-60761-759-4_15. Methods Mol Biol. 2010. PMID: 20721748 Review.

2

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: frebourg t. Hum Mutat. 2008 Dec;29(12):1412-24. doi: 10.1002/humu.20796. Hum Mutat. 2008. PMID: 18561205

3

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.

Théry JC, Krieger S, Gaildrat P, Révillion F, Buisine MP, Killian A, Duponchel C, Rousselin A, Vaur D, Peyrat JP, Berthet P, Frébourg T, Martins A, Hardouin A, Tosi M. Théry JC, et al. Among authors: frebourg t. Eur J Hum Genet. 2011 Oct;19(10):1052-8. doi: 10.1038/ejhg.2011.100. Epub 2011 Jun 15. Eur J Hum Genet. 2011. PMID: 21673748 Free PMC article.

4

Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.

Gaildrat P, Krieger S, Di Giacomo D, Abdat J, Révillion F, Caputo S, Vaur D, Jamard E, Bohers E, Ledemeney D, Peyrat JP, Houdayer C, Rouleau E, Lidereau R, Frébourg T, Hardouin A, Tosi M, Martins A. Gaildrat P, et al. Among authors: frebourg t. J Med Genet. 2012 Oct;49(10):609-17. doi: 10.1136/jmedgenet-2012-100965. Epub 2012 Sep 7. J Med Genet. 2012. PMID: 22962691

5

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.

Bonnet C, Krieger S, Vezain M, Rousselin A, Tournier I, Martins A, Berthet P, Chevrier A, Dugast C, Layet V, Rossi A, Lidereau R, Frébourg T, Hardouin A, Tosi M. Bonnet C, et al. Among authors: frebourg t. J Med Genet. 2008 Jul;45(7):438-46. doi: 10.1136/jmg.2007.056895. Epub 2008 Apr 18. J Med Genet. 2008. PMID: 18424508

6

Significant contribution of germline BRCA2 rearrangements in male breast cancer families.

Tournier I, Paillerets BB, Sobol H, Stoppa-Lyonnet D, Lidereau R, Barrois M, Mazoyer S, Coulet F, Hardouin A, Chompret A, Lortholary A, Chappuis P, Bourdon V, Bonadona V, Maugard C, Gilbert B, Nogues C, Frébourg T, Tosi M. Tournier I, et al. Among authors: frebourg t. Cancer Res. 2004 Nov 15;64(22):8143-7. doi: 10.1158/0008-5472.CAN-04-2467. Cancer Res. 2004. PMID: 15548676

7

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: frebourg t. Hum Mutat. 2010 Jan;31(1):E1110-25. doi: 10.1002/humu.21173. Hum Mutat. 2010. PMID: 19953646

8

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: frebourg t. J Med Genet. 2010 Jun;47(6):398-403. doi: 10.1136/jmg.2009.074047. J Med Genet. 2010. PMID: 20522429 Free article.

9

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: frebourg t. Hum Mutat. 2011 Sep;32(9):989-94. doi: 10.1002/humu.21528. Hum Mutat. 2011. PMID: 21542063

10

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: frebourg t. Hum Mutat. 2013 Nov;34(11):1547-57. doi: 10.1002/humu.22428. Epub 2013 Sep 18. Hum Mutat. 2013. PMID: 23983145

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

400 results

Search Page