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Page 1
Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients.
Russo A, Sala P, Alberici P, Gazzoli I, Radice P, Montefusco C, Torrini M, Mareni C, Fornasarig M, Santarosa M, Viel A, Benatti P, Pedroni M, de Leon MP, Lucci-Cordisco E, Genuardi M, Messerini L, Stigliano V, Cama A, Curia MC, de Lellis L, Signoroni S, Pierotti MA, Bertario L. Russo A, et al. Among authors: viel a. Tumori. 2009 Nov-Dec;95(6):731-8. doi: 10.1177/030089160909500616. Tumori. 2009. PMID: 20210238
Integrated analysis of unclassified variants in mismatch repair genes.
Pastrello C, Pin E, Marroni F, Bedin C, Fornasarig M, Tibiletti MG, Oliani C, Ponz de Leon M, Urso ED, Della Puppa L, Agostini M, Viel A. Pastrello C, et al. Among authors: viel a. Genet Med. 2011 Feb;13(2):115-24. doi: 10.1097/GIM.0b013e3182011489. Genet Med. 2011. PMID: 21239990 Free article.
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.
Aretz S, Tricarico R, Papi L, Spier I, Pin E, Horpaopan S, Cordisco EL, Pedroni M, Stienen D, Gentile A, Panza A, Piepoli A, de Leon MP, Friedl W, Viel A, Genuardi M. Aretz S, et al. Among authors: viel a. Eur J Hum Genet. 2014 Jul;22(7):923-9. doi: 10.1038/ejhg.2012.309. Epub 2013 Jan 30. Eur J Hum Genet. 2014. PMID: 23361220 Free PMC article.
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.
Resta N, Pierannunzio D, Lenato GM, Stella A, Capocaccia R, Bagnulo R, Lastella P, Susca FC, Bozzao C, Loconte DC, Sabbà C, Urso E, Sala P, Fornasarig M, Grammatico P, Piepoli A, Host C, Turchetti D, Viel A, Memo L, Giunti L, Stigliano V, Varesco L, Bertario L, Genuardi M, Lucci Cordisco E, Tibiletti MG, Di Gregorio C, Andriulli A, Ponz de Leon M; AIFEG. Resta N, et al. Among authors: viel a. Dig Liver Dis. 2013 Jul;45(7):606-11. doi: 10.1016/j.dld.2012.12.018. Epub 2013 Feb 15. Dig Liver Dis. 2013. PMID: 23415580
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis.
Tricarico R, Cortellino S, Riccio A, Jagmohan-Changur S, Van der Klift H, Wijnen J, Turner D, Ventura A, Rovella V, Percesepe A, Lucci-Cordisco E, Radice P, Bertario L, Pedroni M, Ponz de Leon M, Mancuso P, Devarajan K, Cai KQ, Klein-Szanto AJ, Neri G, Møller P, Viel A, Genuardi M, Fodde R, Bellacosa A. Tricarico R, et al. Among authors: viel a. Oncotarget. 2015 Dec 15;6(40):42892-904. doi: 10.18632/oncotarget.5740. Oncotarget. 2015. PMID: 26503472 Free PMC article.
Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement.
Urso EDL, Ponz de Leon M, Vitellaro M, Piozzi GN, Bao QR, Martayan A, Remo A, Stigliano V, Oliani C, Lucci Cordisco E, Pucciarelli S, Ranzani GN, Viel A; AIFEG group. Urso EDL, et al. Among authors: viel a. Dig Liver Dis. 2021 Apr;53(4):409-417. doi: 10.1016/j.dld.2020.11.018. Epub 2021 Jan 25. Dig Liver Dis. 2021. PMID: 33504457
Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.
Dell'Elice A, Cini G, Fornasarig M, Armelao F, Barana D, Bianchi F, Casalis Cavalchini GC, Maffè A, Mammi I, Pedroni M, Percesepe A, Sorrentini I, Tibiletti M, Maestro R, Quaia M, Viel A. Dell'Elice A, et al. Among authors: viel a. Mol Genet Genomic Med. 2021 Dec;9(12):e1831. doi: 10.1002/mgg3.1831. Epub 2021 Oct 26. Mol Genet Genomic Med. 2021. PMID: 34704405 Free PMC article.
256 results