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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: rossi bm. Fam Cancer. 2020 Oct;19(4):323-336. doi: 10.1007/s10689-020-00182-5. Fam Cancer. 2020. PMID: 32363481
Frequency of extra-colonic tumors in hereditary nonpolyposis colorectal cancer (HNPCC) and familial colorectal cancer (FCC) Brazilian families: An analysis by a Brazilian Hereditary Colorectal Cancer Institutional Registry.
Oliveira Ferreira F, Napoli Ferreira CC, Rossi BM, Toshihiko Nakagawa W, Aguilar S Jr, Monteiro Santos EM, Vierira Costa ML, Lopes A. Oliveira Ferreira F, et al. Among authors: rossi bm. Fam Cancer. 2004;3(1):41-7. doi: 10.1023/B:FAME.0000026810.99776.e9. Fam Cancer. 2004. PMID: 15131405
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: rossi bm. 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: rossi bm. 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: rossi bm. BMC Cancer. 2012 Feb 9;12:64. doi: 10.1186/1471-2407-12-64. BMC Cancer. 2012. PMID: 22321913 Free PMC article.
76 results