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Germline mutations in MAP3K6 are associated with familial gastric cancer.
Gaston D, Hansford S, Oliveira C, Nightingale M, Pinheiro H, Macgillivray C, Kaurah P, Rideout AL, Steele P, Soares G, Huang WY, Whitehouse S, Blowers S, LeBlanc MA, Jiang H, Greer W, Samuels ME, Orr A, Fernandez CV, Majewski J, Ludman M, Dyack S, Penney LS, McMaster CR, Huntsman D, Bedard K. Gaston D, et al. Among authors: soares g. PLoS Genet. 2014 Oct 23;10(10):e1004669. doi: 10.1371/journal.pgen.1004669. eCollection 2014 Oct. PLoS Genet. 2014. PMID: 25340522 Free PMC article.
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.
Sahasrabudhe R, Lott P, Bohorquez M, Toal T, Estrada AP, Suarez JJ, Brea-Fernández A, Cameselle-Teijeiro J, Pinto C, Ramos I, Mantilla A, Prieto R, Corvalan A, Norero E, Alvarez C, Tapia T, Carvallo P, Gonzalez LM, Cock-Rada A, Solano A, Neffa F, Della Valle A, Yau C, Soares G, Borowsky A, Hu N, He LJ, Han XY; Latin American Gastric Cancer Genetics Collaborative Group; Taylor PR, Goldstein AM, Torres J, Echeverry M, Ruiz-Ponte C, Teixeira MR, Carvajal-Carmona LG. Sahasrabudhe R, et al. Among authors: soares g. Gastroenterology. 2017 Apr;152(5):983-986.e6. doi: 10.1053/j.gastro.2016.12.010. Epub 2016 Dec 23. Gastroenterology. 2017. PMID: 28024868 Free PMC article.
Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.
Almeida MR, Campos-Xavier AB, Medeira A, Cordeiro I, Sousa AB, Lima M, Soares G, Rocha M, Saraiva J, Ramos L, Sousa S, Marcelino JP, Correia A, Santos HG. Almeida MR, et al. Among authors: soares g. Clin Genet. 2009 Feb;75(2):150-6. doi: 10.1111/j.1399-0004.2008.01123.x. Clin Genet. 2009. PMID: 19215249
The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review.
Lopes F, Torres F, Soares G, van Karnebeek CD, Martins C, Antunes D, Silva J, Muttucomaroe L, Botelho LF, Sousa S, Rendeiro P, Tavares P, Van Esch H, Rajcan-Separovic E, Maciel P. Lopes F, et al. Among authors: soares g. Front Genet. 2019 Feb 22;10:58. doi: 10.3389/fgene.2019.00058. eCollection 2019. Front Genet. 2019. PMID: 30853971 Free PMC article.
Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
Wen J, Lopes F, Soares G, Farrell SA, Nelson C, Qiao Y, Martell S, Badukke C, Bessa C, Ylstra B, Lewis S, Isoherranen N, Maciel P, Rajcan-Separovic E. Wen J, et al. Among authors: soares g. Orphanet J Rare Dis. 2013 Jul 10;8:100. doi: 10.1186/1750-1172-8-100. Orphanet J Rare Dis. 2013. PMID: 23837398 Free PMC article.
489 results