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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: fornasarig 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
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: fornasarig 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.
Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.
Gismondi V, Meta M, Bonelli L, Radice P, Sala P, Bertario L, Viel A, Fornasarig M, Arrigoni A, Gentile M, Ponz de Leon M, Anselmi L, Mareni C, Bruzzi P, Varesco L. Gismondi V, et al. Among authors: fornasarig m. Int J Cancer. 2004 May 1;109(5):680-4. doi: 10.1002/ijc.20054. Int J Cancer. 2004. PMID: 14999774
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: fornasarig 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.
Somatic mosaicism in a patient with Lynch syndrome.
Pastrello C, Fornasarig M, Pin E, Berto E, Pivetta B, Viel A. Pastrello C, et al. Among authors: fornasarig m. Am J Med Genet A. 2009 Feb;149A(2):212-5. doi: 10.1002/ajmg.a.32620. Am J Med Genet A. 2009. PMID: 19133695
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: fornasarig m. Genet Med. 2011 Feb;13(2):115-24. doi: 10.1097/GIM.0b013e3182011489. Genet Med. 2011. PMID: 21239990 Free article.
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