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A BRCA1 promoter variant (rs11655505) and breast cancer risk.
Verderio P, Pizzamiglio S, Southey MC, Spurdle AB, Hopper JL, Chen X, Beesley J; Australian Ovarian Cancer Study Group KConFab; Schmutzler RK, Engel C, Burwinkel B, Bugert P, Ficarazzi F, Manoukian S, Barile M, Wappenschmidt B, Chenevix-Trench G, Radice P, Peterlongo P. Verderio P, et al. Among authors: manoukian s. J Med Genet. 2010 Apr;47(4):268-70. doi: 10.1136/jmg.2009.073544. J Med Genet. 2010. PMID: 20413709
Bilateral preaxial polydactyly in a WAGR syndrome patient.
Manoukian S, Crolla JA, Mammoliti PM, Testi MA, Zanini R, Carpanelli ML, Piozzi E, Sozzi G, De Vecchi G, Terenziani M, Spreafico F, Collini P, Radice P, Perotti D. Manoukian S, et al. Am J Med Genet A. 2005 May 1;134(4):426-9. doi: 10.1002/ajmg.a.30647. Am J Med Genet A. 2005. PMID: 15742368
Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families.
Manoukian S, Peissel B, Pensotti V, Barile M, Cortesi L, Stacchiotti S, Terenziani M, Barbera F, Pasquini G, Frigerio S, Pierotti MA, Radice P, Della-Torre G. Manoukian S, et al. Eur J Cancer. 2007 Feb;43(3):601-6. doi: 10.1016/j.ejca.2006.09.024. Epub 2007 Jan 16. Eur J Cancer. 2007. PMID: 17224268
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.
Carvalho MA, Marsillac SM, Karchin R, Manoukian S, Grist S, Swaby RF, Urmenyi TP, Rondinelli E, Silva R, Gayol L, Baumbach L, Sutphen R, Pickard-Brzosowicz JL, Nathanson KL, Sali A, Goldgar D, Couch FJ, Radice P, Monteiro AN. Carvalho MA, et al. Among authors: manoukian s. Cancer Res. 2007 Feb 15;67(4):1494-501. doi: 10.1158/0008-5472.CAN-06-3297. Cancer Res. 2007. PMID: 17308087 Free PMC article.
Evidences for association of the CASP8 -652 6N del promoter polymorphism with age at diagnosis in familial breast cancer cases.
De Vecchi G, Verderio P, Pizzamiglio S, Manoukian S, Barile M, Fortuzzi S, Ravagnani F, Pierotti MA, Radice P, Peterlongo P. De Vecchi G, et al. Among authors: manoukian s. Breast Cancer Res Treat. 2009 Feb;113(3):607-8. doi: 10.1007/s10549-008-9963-y. Epub 2008 Mar 16. Breast Cancer Res Treat. 2009. PMID: 18343995 No abstract available.
345 results