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A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.
Viel A, Bruselles A, Meccia E, Fornasarig M, Quaia M, Canzonieri V, Policicchio E, Urso ED, Agostini M, Genuardi M, Lucci-Cordisco E, Venesio T, Martayan A, Diodoro MG, Sanchez-Mete L, Stigliano V, Mazzei F, Grasso F, Giuliani A, Baiocchi M, Maestro R, Giannini G, Tartaglia M, Alexandrov LB, Bignami M. Viel A, et al. Among authors: quaia m. EBioMedicine. 2017 Jun;20:39-49. doi: 10.1016/j.ebiom.2017.04.022. Epub 2017 Apr 13. EBioMedicine. 2017. PMID: 28551381 Free PMC article.
MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.
Pin E, Pastrello C, Tricarico R, Papi L, Quaia M, Fornasarig M, Carnevali I, Oliani C, Fornasin A, Agostini M, Maestro R, Barana D, Aretz S, Genuardi M, Viel A. Pin E, et al. Among authors: quaia m. Int J Cancer. 2013 Mar 1;132(5):1060-9. doi: 10.1002/ijc.27761. Epub 2012 Aug 28. Int J Cancer. 2013. PMID: 22865608 Free article.
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: quaia m. 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.
Different molecular mechanisms underlie genomic deletions in the MLH1 Gene.
Viel A, Petronzelli F, Della Puppa L, Lucci-Cordisco E, Fornasarig M, Pucciarelli S, Rovella V, Quaia M, Ponz de Leon M, Boiocchi M, Genuardi M. Viel A, et al. Among authors: quaia m. Hum Mutat. 2002 Nov;20(5):368-74. doi: 10.1002/humu.10138. Hum Mutat. 2002. PMID: 12402334
Prevalence of the E1317Q variant of the APC gene in Italian patients with colorectal adenomas.
Gismondi V, Bonelli L, Sciallero S, Margiocco P, Viel A, Radice P, Mondini P, Sala P, Montera MP, Mareni C, Quaia M, Fornasarig M, Gentile M, Pietro G, Rossini P, Arrigoni A, Meucci GM, Bruzzi P, Varesco L. Gismondi V, et al. Among authors: quaia m. Genet Test. 2002 Winter;6(4):313-7. doi: 10.1089/10906570260471859. Genet Test. 2002. PMID: 12537656
35 results