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The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families.
Pinheiro M, Francisco I, Pinto C, Peixoto A, Veiga I, Filipe B, Santos C, Maia S, Silva J, Pinto P, Santos R, Claro I, Lage P, Lopes P, Ferreira S, Rosa I, Fonseca R, Rodrigues P, Henrique R, Chaves P, Pereira AD, Brandão C, Albuquerque C, Teixeira MR. Pinheiro M, et al. Among authors: filipe b. Genes Chromosomes Cancer. 2019 Sep;58(9):657-664. doi: 10.1002/gcc.22759. Epub 2019 Apr 26. Genes Chromosomes Cancer. 2019. PMID: 30968502
Portuguese Recommendations for the use of biological therapies in patients with rheumatoid arthritis- 2016 update.
Duarte C, Sousa-Neves J, Águeda A, Ribeiro P, Daniel A, Eugénio G, Serra S, Araújo F, Barcelos A, Filipe B, Bernardes M, Canhão H, Cerqueira M, Capela S, Cordeiro A, Costa F, Costa L, Cruz M, Cunha Miranda L, Duarte C, Falcão S, Faria D, Figueira R, Freitas JP, Gonçalves MJ, Madruga Dias J, Melo Gomes J, Mourão AF, Neto A, Oliveira Ramos F, Pimenta S, Pinto P, Polido-Pereira J, Ponte C, Ramos J, Rodrigues A, Santos H, Santos MJ, Sepriano A, Silva C, Tavares Costa J, Teixeira F, Teixeira V, Valente P, Vieira-Sousa E, Barros R, Abreu P, Fonseca JE. Duarte C, et al. Among authors: filipe b. Acta Reumatol Port. 2017 Jun 1;42(2)(Apr-Jun):112-126. Acta Reumatol Port. 2017. PMID: 28535544 English.