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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: carraro dm. Fam Cancer. 2020 Oct;19(4):323-336. doi: 10.1007/s10689-020-00182-5. Fam Cancer. 2020. PMID: 32363481
Two new MLH1 germline mutations in Brazilian Lynch syndrome families.
Dominguez MV, Bastos EP, Santos EM, Oliveira LP, Ferreira FO, Carraro DM, Rossi BM. Dominguez MV, et al. Among authors: carraro dm. Int J Colorectal Dis. 2008 Dec;23(12):1263-4. doi: 10.1007/s00384-008-0515-z. Epub 2008 Jul 2. Int J Colorectal Dis. 2008. PMID: 18594839 No abstract available.
Mismatch repair genes in Lynch syndrome: a review.
Silva FC, Valentin MD, Ferreira Fde O, Carraro DM, Rossi BM. Silva FC, et al. Among authors: carraro dm. Sao Paulo Med J. 2009 Jan;127(1):46-51. doi: 10.1590/s1516-31802009000100010. Sao Paulo Med J. 2009. PMID: 19466295 Free PMC article. Review.
Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries.
Monteiro Santos EM, Valentin MD, Carneiro F, de Oliveira LP, de Oliveira Ferreira F, Junior SA, Nakagawa WT, Gomy I, de Faria Ferraz VE, da Silva Junior WA, Carraro DM, Rossi BM. Monteiro Santos EM, et al. Among authors: carraro dm. BMC Cancer. 2012 Feb 9;12:64. doi: 10.1186/1471-2407-12-64. BMC Cancer. 2012. PMID: 22321913 Free PMC article.
Mutation spectrum in South American Lynch syndrome families.
Dominguez-Valentin M, Nilbert M, Wernhoff P, López-Köstner F, Vaccaro C, Sarroca C, Palmero EI, Giraldo A, Ashton-Prolla P, Alvarez K, Ferro A, Neffa F, Caris J, Carraro DM, Rossi BM. Dominguez-Valentin M, et al. Among authors: carraro dm. Hered Cancer Clin Pract. 2013 Dec 18;11(1):18. doi: 10.1186/1897-4287-11-18. Hered Cancer Clin Pract. 2013. PMID: 24344984 Free PMC article.
202 results