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TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.
Pinto C, Veiga I, Pinheiro M, Peixoto A, Pinto A, Lopes JM, Reis RM, Oliveira C, Baptista M, Roque L, Regateiro F, Cirnes L, Hofstra RM, Seruca R, Castedo S, Teixeira MR. Pinto C, et al. Among authors: baptista m. Fam Cancer. 2009;8(4):383-90. doi: 10.1007/s10689-009-9251-y. Epub 2009 May 26. Fam Cancer. 2009. PMID: 19468865
The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.
Pinheiro M, Pinto C, Peixoto A, Veiga I, Mesquita B, Henrique R, Lopes P, Sousa O, Fragoso M, Dias LM, Baptista M, Marinho C, Mangold E, Vaccaro C, Evans DG, Farrington S, Dunlop MG, Teixeira MR. Pinheiro M, et al. Among authors: baptista m. Clin Genet. 2013 Sep;84(3):244-50. doi: 10.1111/cge.12062. Epub 2012 Dec 27. Clin Genet. 2013. PMID: 23170986
Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families.
Isidro G, Veiga I, Matos P, Almeida S, Bizarro S, Marshall B, Baptista M, Leite J, Regateiro F, Soares J, Castedo S, Boavida MG. Isidro G, et al. Among authors: baptista m. Hum Mutat. 2000 Jan;15(1):116. doi: 10.1002/(SICI)1098-1004(200001)15:1<116::AID-HUMU24>3.0.CO;2-Q. Hum Mutat. 2000. PMID: 10612836
Phenotypic heterogeneity of hereditary diffuse gastric cancer: report of a family with early-onset disease.
Gullo I, Devezas V, Baptista M, Garrido L, Castedo S, Morais R, Wen X, Rios E, Pinheiro J, Pinto-Ribeiro I, Ferreira RM, Preto J, Santos-Antunes J, Marques M, Campos M, Almeida F, Espinheira MDC, Amil Dias J, Figueiredo C, Oliveira C, Trindade E, Carneiro F. Gullo I, et al. Among authors: baptista m. Gastrointest Endosc. 2018 Jun;87(6):1566-1575. doi: 10.1016/j.gie.2018.02.008. Epub 2018 Feb 15. Gastrointest Endosc. 2018. PMID: 29454568
The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing.
Barbosa-Matos R, Leal Silva R, Garrido L, Aguiar AC, Garcia-Pelaez J, André A, Seixas S, Sousa SP, Ferro L, Vilarinho L, Gullo I, Devezas V, Oliveira R, Fernandes S, Costa SC, Magalhães A, Baptista M, Carneiro F, Pinheiro H, Castedo S, Oliveira C. Barbosa-Matos R, et al. Among authors: baptista m. Cancers (Basel). 2021 Sep 4;13(17):4464. doi: 10.3390/cancers13174464. Cancers (Basel). 2021. PMID: 34503274 Free PMC article.
778 results