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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: henrique r. Clin Genet. 2013 Sep;84(3):244-50. doi: 10.1111/cge.12062. Epub 2012 Dec 27. Clin Genet. 2013. PMID: 23170986
Correction to: Abstracts : 29th European Congress of Pathology.
Farinha M, Ribeiro J, Montezuma D, Pires-Luís A, Lopes P, Sousa H, Afonso L, Henrique R. Farinha M, et al. Among authors: henrique r. Virchows Arch. 2018 Feb;472(2):303. doi: 10.1007/s00428-017-2254-4. Virchows Arch. 2018. PMID: 29143111
Molecular Genetic Features of Primary Nonurachal Enteric-type Adenocarcinoma, Urachal Adenocarcinoma, Mucinous Adenocarcinoma, and Intestinal Metaplasia/Adenoma: Review of the Literature and Next-generation Sequencing Study.
Pires-Luis AS, Martinek P, Alaghehbandan R, Trpkov K, Comperat EM, Perez Montiel DM, Bulimbasic S, Lobo J, Henrique R, Vanecek T, Pivovarcikova K, Michalova K, Pitra T, Hora M, Marques A, Lopes JM, Rogala J, Mareckova J, Michal M, Hes O. Pires-Luis AS, et al. Among authors: henrique r. Adv Anat Pathol. 2020 Sep;27(5):303-310. doi: 10.1097/PAP.0000000000000268. Adv Anat Pathol. 2020. PMID: 32520749 Review.
412 results