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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: mazoyer s. Hum Mutat. 2012 Aug;33(8):1228-38. doi: 10.1002/humu.22101. Epub 2012 May 11. Hum Mutat. 2012. PMID: 22505045
BRCA2 mutations in hereditary breast and ovarian cancer in France.
Serova-Sinilnikova OM, Boutrand L, Stoppa-Lyonnet D, Bressac-de-Paillerets B, Dubois V, Lasset C, Janin N, Bignon YJ, Longy M, Maugard C, Lidereau R, Leroux D, Frebourg T, Mazoyer S, Lenoir GM. Serova-Sinilnikova OM, et al. Among authors: mazoyer s. Am J Hum Genet. 1997 May;60(5):1236-9. Am J Hum Genet. 1997. PMID: 9150172 Free PMC article. No abstract available.
An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation?
Puget N, Sinilnikova OM, Stoppa-Lyonnet D, Audoynaud C, Pagès S, Lynch HT, Goldgar D, Lenoir GM, Mazoyer S. Puget N, et al. Among authors: mazoyer s. Am J Hum Genet. 1999 Jan;64(1):300-2. doi: 10.1086/302211. Am J Hum Genet. 1999. PMID: 9915971 Free PMC article. No abstract available.
BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations.
Ginolhac SM, Gad S, Corbex M, Bressac-De-Paillerets B, Chompret A, Bignon YJ, Peyrat JP, Fournier J, Lasset C, Giraud S, Muller D, Fricker JP, Hardouin A, Berthet P, Maugard C, Nogues C, Lidereau R, Longy M, Olschwang S, Toulas C, Guimbaud R, Yannoukakos D, Szabo C, Durocher F, Moisan AM, Simard J, Mazoyer S, Lynch HT, Goldgar D, Stoppa-Lyonnet D, Lenoir GM, Sinilnikova OM. Ginolhac SM, et al. Among authors: mazoyer s. Cancer Epidemiol Biomarkers Prev. 2003 Feb;12(2):90-5. Cancer Epidemiol Biomarkers Prev. 2003. PMID: 12582017
136 results