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Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, Bronner M, Buisson M, Coulet F, Gaildrat P, Lefol C, Léone M, Mazoyer S, Muller D, Remenieras A, Révillion F, Rouleau E, Sokolowska J, Vert JP, Lidereau R, Soubrier F, Sobol H, Sevenet N, Bressac-de Paillerets B, Hardouin A, Tosi M, Sinilnikova OM, Stoppa-Lyonnet D. Houdayer C, et al. Among authors: tosi m. Hum Mutat. 2012 Aug;33(8):1228-38. doi: 10.1002/humu.22101. Epub 2012 May 11. Hum Mutat. 2012. PMID: 22505045
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: tosi m. 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.
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: tosi m. 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
Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.
Houdayer C, Gauthier-Villars M, Laugé A, Pagès-Berhouet S, Dehainault C, Caux-Moncoutier V, Karczynski P, Tosi M, Doz F, Desjardins L, Couturier J, Stoppa-Lyonnet D. Houdayer C, et al. Among authors: tosi m. Hum Mutat. 2004 Feb;23(2):193-202. doi: 10.1002/humu.10303. Hum Mutat. 2004. PMID: 14722923
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: tosi m. Cancer Res. 2004 Nov 15;64(22):8143-7. doi: 10.1158/0008-5472.CAN-04-2467. Cancer Res. 2004. PMID: 15548676
The contribution of germline rearrangements to the spectrum of BRCA2 mutations.
Casilli F, Tournier I, Sinilnikova OM, Coulet F, Soubrier F, Houdayer C, Hardouin A, Berthet P, Sobol H, Bourdon V, Muller D, Fricker JP, Capoulade-Metay C, Chompret A, Nogues C, Mazoyer S, Chappuis P, Maillet P, Philippe C, Lortholary A, Gesta P, Bézieau S, Toulas C, Gladieff L, Maugard CM, Provencher DM, Dugast C, Delvincourt C, Nguyen TD, Faivre L, Bonadona V, Frébourg T, Lidereau R, Stoppa-Lyonnet D, Tosi M. Casilli F, et al. Among authors: tosi m. J Med Genet. 2006 Sep;43(9):e49. doi: 10.1136/jmg.2005.040212. J Med Genet. 2006. PMID: 16950820 Free PMC article.
642 results