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Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP, Mayordomo AC, Kauppinen AK, Cerliani MB, Coraglio M, Collia ÁK, Gutiérrez A, Alvarez K, Cassana A, Lopéz-Köstner F, Jauk F, García-Rivello H, Ristimäki A, Koskenvuo L, Lepistö A, Nieminen TT, Vaccaro CA, Pavicic WH, Peltomäki P. Olkinuora AP, et al. Among authors: pavicic wh. Front Oncol. 2022 Oct 28;12:870863. doi: 10.3389/fonc.2022.870863. eCollection 2022. Front Oncol. 2022. PMID: 36387175 Free PMC article.
LINE-1 hypomethylation in familial and sporadic cancer.
Pavicic W, Joensuu EI, Nieminen T, Peltomäki P. Pavicic W, et al. J Mol Med (Berl). 2012 Jul;90(7):827-35. doi: 10.1007/s00109-011-0854-z. Epub 2012 Jan 8. J Mol Med (Berl). 2012. PMID: 22228215 Free PMC article.
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.
Piñero TA, Soukarieh O, Rolain M, Alvarez K, López-Köstner F, Torrezan GT, Carraro DM, De Oliveira Nascimento IL, Bomfim TF, Machado-Lopes TMB, Freitas JC, Toralles MB, Sandes KA, Rossi BM, Junior SA, Meira J, Dominguez-Valentin M, Møller P, Vaccaro CA, Martins A, Pavicic WH. Piñero TA, et al. Among authors: pavicic wh. Fam Cancer. 2020 Oct;19(4):323-336. doi: 10.1007/s10689-020-00182-5. Fam Cancer. 2020. PMID: 32363481
22 results