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Page 1
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, Marin M, Damiola F, Bernard L, Pensotti V, Volorio S, Dall'Olio V, Meindl A, Bartram C, Sutter C, Surowy H, Sornin V, Dondon MG, Eon-Marchais S, Stoppa-Lyonnet D, Andrieu N, Sinilnikova OM; GENESIS; Mitchell G, James PA, Thompson E; kConFab; SWE-BRCA; Marchetti M, Verzeroli C, Tartari C, Capone GL, Putignano AL, Genuardi M, Medici V, Marchi I, Federico M, Tognazzo S, Matricardi L, Agata S, Dolcetti R, Della Puppa L, Cini G, Gismondi V, Viassolo V, Perfumo C, Mencarelli MA, Baldassarri M, Peissel B, Roversi G, Silvestri V, Rizzolo P, Spina F, Vivanet C, Tibiletti MG, Caligo MA, Gambino G, Tommasi S, Pilato B, Tondini C, Corna C, Bonanni B, Barile M, Osorio A, Benitez J, Balestrino L, Ottini L, Manoukian S, Pierotti MA, Renieri A, Varesco L, Couch FJ, Wang X, Devilee P, Hilbers FS, van Asperen CJ, Viel A, Montagna M, Cortesi L, Diez O, Balmaña J, Hauke J, Schmutzler RK, Papi L, Pujana MA, Lázaro C, Falanga A, Offit K, Vijai J, Campbell I, Burwinkel B, Kvist A, Ehrencrona H, Mazoyer S, Pizzamiglio S, Verderio P, Surralles J, Rogan PK, Radice P. Peterlongo P, et al. Among authors: verderio p. Hum Mol Genet. 2015 Sep 15;24(18):5345-55. doi: 10.1093/hmg/ddv251. Epub 2015 Jun 30. Hum Mol Genet. 2015. PMID: 26130695 Free PMC article.
Agreement between observers: its measure on a quantitative scale.
Marubini E, Pizzamiglio S, Verderio P. Marubini E, et al. Among authors: verderio p. Int J Biol Markers. 2005 Jan-Mar;20(1):73-8. doi: 10.5301/jbm.2008.3928. Int J Biol Markers. 2005. PMID: 15832777 Free article. No abstract available.
Confidence interval for DNA/mRNA concentration by real-time PCR.
Pizzamiglio S, Verderio P, Orlando C, Marubini E. Pizzamiglio S, et al. Among authors: verderio p. Int J Biol Markers. 2007 Jul-Sep;22(3):232-6. doi: 10.1177/172460080702200312. Int J Biol Markers. 2007. PMID: 17922469 Free article. No abstract available.
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: verderio p. 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.
SNPs in ultraconserved elements and familial breast cancer risk.
Catucci I, Verderio P, Pizzamiglio S, Manoukian S, Peissel B, Barile M, Tizzoni L, Bernard L, Ravagnani F, Galastri L, Pierotti MA, Radice P, Peterlongo P. Catucci I, et al. Among authors: verderio p. Carcinogenesis. 2009 Mar;30(3):544-5; author reply 546. doi: 10.1093/carcin/bgn289. Epub 2009 Jan 6. Carcinogenesis. 2009. PMID: 19126653 No abstract available.
Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases.
Catucci I, Yang R, Verderio P, Pizzamiglio S, Heesen L, Hemminki K, Sutter C, Wappenschmidt B, Dick M, Arnold N, Bugert P, Niederacher D, Meindl A, Schmutzler RK, Bartram CC, Ficarazzi F, Tizzoni L, Zaffaroni D, Manoukian S, Barile M, Pierotti MA, Radice P, Burwinkel B, Peterlongo P. Catucci I, et al. Among authors: verderio p. Hum Mutat. 2010 Jan;31(1):E1052-7. doi: 10.1002/humu.21141. Hum Mutat. 2010. PMID: 19847796
197 results