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138 results

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Page 1
A BRCA1 nonsense mutation causes exon skipping.
Mazoyer S, Puget N, Perrin-Vidoz L, Lynch HT, Serova-Sinilnikova OM, Lenoir GM. Mazoyer S, et al. Am J Hum Genet. 1998 Mar;62(3):713-5. doi: 10.1086/301768. Am J Hum Genet. 1998. PMID: 9497265 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.
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooley KA, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Hofmann W, Sutter C, Niederacher D, Deissler H, Caldes T, Kämpjärvi K, Nevanlinna H, Simard J, Beesley J, Chen X; Kathleen Cuningham Consortium for Research into Familial Breast Cancer; Neuhausen SL, Rebbeck TR, Wagner T, Lynch HT, Isaacs C, Weitzel J, Ganz PA, Daly MB, Tomlinson G, Olopade OI, Blum JL, Couch FJ, Peterlongo P, Manoukian S, Barile M, Radice P, Szabo CI, Pereira LH, Greene MH, Rennert G, Lejbkowicz F, Barnett-Griness O, Andrulis IL, Ozcelik H; OCGN; Gerdes AM, Caligo MA, Laitman Y, Kaufman B, Milgrom R, Friedman E; Swedish BRCA1 and BRCA2 study collaborators; Domchek SM, Nathanson KL, Osorio A, Llort G, Milne RL, Benítez J, Hamann U, Hogervorst FB, Manders P, Ligtenberg MJ, van den Ouweland AM; DNA-HEBON collaborators; Peock S, Cook M, Platte R, Evans DG, Eeles R, Pichert G, Chu C, Eccles D, Davidson R, Douglas F; EMBRACE; Godwin AK, Barjhoux L, Mazoyer S, Sobol H, Bourdon V, Eisinger F, Chompret A, Capoulade C, Bressac-de Paillerets B, Lenoir GM, Gauthier-Villars M, Houdayer C, Stoppa-Lyonnet D; GEMO; Chenevix-Trench G, Easton DF; CIMBA. Antoniou AC, et al. Among authors: mazoyer s. Am J Hum Genet. 2008 Apr;82(4):937-48. doi: 10.1016/j.ajhg.2008.02.008. Epub 2008 Mar 20. Am J Hum Genet. 2008. PMID: 18355772 Free PMC article.
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.
Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing.
Unger MA, Nathanson KL, Calzone K, Antin-Ozerkis D, Shih HA, Martin AM, Lenoir GM, Mazoyer S, Weber BL. Unger MA, et al. Among authors: mazoyer s. Am J Hum Genet. 2000 Oct;67(4):841-50. doi: 10.1086/303076. Epub 2000 Sep 7. Am J Hum Genet. 2000. PMID: 10978226 Free PMC article.
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Antoniou AC, Sinilnikova OM, McGuffog L, Healey S, Nevanlinna H, Heikkinen T, Simard J, Spurdle AB, Beesley J, Chen X; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; Neuhausen SL, Ding YC, Couch FJ, Wang X, Fredericksen Z, Peterlongo P, Peissel B, Bonanni B, Viel A, Bernard L, Radice P, Szabo CI, Foretova L, Zikan M, Claes K, Greene MH, Mai PL, Rennert G, Lejbkowicz F, Andrulis IL, Ozcelik H, Glendon G; OCGN; Gerdes AM, Thomassen M, Sunde L, Caligo MA, Laitman Y, Kontorovich T, Cohen S, Kaufman B, Dagan E, Baruch RG, Friedman E, Harbst K, Barbany-Bustinza G, Rantala J, Ehrencrona H, Karlsson P, Domchek SM, Nathanson KL, Osorio A, Blanco I, Lasa A, Benítez J, Hamann U, Hogervorst FB, Rookus MA, Collee JM, Devilee P, Ligtenberg MJ, van der Luijt RB, Aalfs CM, Waisfisz Q, Wijnen J, van Roozendaal CE; HEBON; Peock S, Cook M, Frost D, Oliver C, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Chu C, Eccles D, Cole T, Hodgson S; EMBRACE; Godwin AK, Stoppa-Lyonnet D, Buecher B, Léoné M, Bressac-de Paillerets B, Remenieras A, Caron O, Lenoir GM, Sevenet N, Longy M, Ferrer SF, Prieur F; GEMO; Goldgar D, Miron A, John EM, Buys SS, Daly MB, Hopp… See abstract for full author list ➔ Antoniou AC, et al. Hum Mol Genet. 2009 Nov 15;18(22):4442-56. doi: 10.1093/hmg/ddp372. Epub 2009 Aug 5. Hum Mol Genet. 2009. PMID: 19656774 Free PMC article.
138 results