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1,338 results

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Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
Luo X, Maciaszek JL, Thompson BA, Leong HS, Dixon K, Sousa S, Anderson M, Roberts ME, Lee K, Spurdle AB, Mensenkamp AR, Brannan T, Pardo C, Zhang L, Pesaran T, Wei S, Fasaye GA, Kesserwan C, Shirts BH, Davis JL, Oliveira C, Plon SE, Schrader KA, Karam R; ClinGen CDH1 Variant Curation Expert Panel. Luo X, et al. Among authors: sousa s. J Med Genet. 2023 Jun;60(6):568-575. doi: 10.1136/jmg-2022-108807. Epub 2022 Dec 7. J Med Genet. 2023. PMID: 36600593 Free PMC article.
Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression.
Oliveira C, Sousa S, Pinheiro H, Karam R, Bordeira-Carriço R, Senz J, Kaurah P, Carvalho J, Pereira R, Gusmão L, Wen X, Cipriano MA, Yokota J, Carneiro F, Huntsman D, Seruca R. Oliveira C, et al. Among authors: sousa s. Gastroenterology. 2009 Jun;136(7):2137-48. doi: 10.1053/j.gastro.2009.02.065. Epub 2009 Mar 6. Gastroenterology. 2009. PMID: 19269290
MSI phenotype and MMR alterations in familial and sporadic gastric cancer.
Leite M, Corso G, Sousa S, Milanezi F, Afonso LP, Henrique R, Soares JM, Castedo S, Carneiro F, Roviello F, Oliveira C, Seruca R. Leite M, et al. Among authors: sousa s. Int J Cancer. 2011 Apr 1;128(7):1606-13. doi: 10.1002/ijc.25495. Epub 2010 Jun 7. Int J Cancer. 2011. PMID: 20533283
De novo expression of CD44 variants in sporadic and hereditary gastric cancer.
da Cunha CB, Oliveira C, Wen X, Gomes B, Sousa S, Suriano G, Grellier M, Huntsman DG, Carneiro F, Granja PL, Seruca R. da Cunha CB, et al. Among authors: sousa s. Lab Invest. 2010 Nov;90(11):1604-14. doi: 10.1038/labinvest.2010.155. Epub 2010 Sep 20. Lab Invest. 2010. PMID: 20856229 Free article.
Oncogenic mutations in gastric cancer with microsatellite instability.
Corso G, Velho S, Paredes J, Pedrazzani C, Martins D, Milanezi F, Pascale V, Vindigni C, Pinheiro H, Leite M, Marrelli D, Sousa S, Carneiro F, Oliveira C, Roviello F, Seruca R. Corso G, et al. Among authors: sousa s. Eur J Cancer. 2011 Feb;47(3):443-51. doi: 10.1016/j.ejca.2010.09.008. Eur J Cancer. 2011. PMID: 20937558
Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours.
Velho S, Oliveira C, Paredes J, Sousa S, Leite M, Matos P, Milanezi F, Ribeiro AS, Mendes N, Licastro D, Karhu A, Oliveira MJ, Ligtenberg M, Hamelin R, Carneiro F, Lindblom A, Peltomaki P, Castedo S, Schwartz S Jr, Jordan P, Aaltonen LA, Hofstra RM, Suriano G, Stupka E, Fialho AM, Seruca R. Velho S, et al. Among authors: sousa s. Hum Mol Genet. 2010 Feb 15;19(4):697-706. doi: 10.1093/hmg/ddp536. Epub 2009 Dec 2. Hum Mol Genet. 2010. PMID: 19955118 Free PMC article.
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: sousa sp. Cancers (Basel). 2021 Sep 4;13(17):4464. doi: 10.3390/cancers13174464. Cancers (Basel). 2021. PMID: 34503274 Free PMC article.
CPEB1, a novel gene silenced in gastric cancer: a Drosophila approach.
Caldeira J, Simões-Correia J, Paredes J, Pinto MT, Sousa S, Corso G, Marrelli D, Roviello F, Pereira PS, Weil D, Oliveira C, Casares F, Seruca R. Caldeira J, et al. Among authors: sousa s. Gut. 2012 Aug;61(8):1115-23. doi: 10.1136/gutjnl-2011-300427. Epub 2011 Nov 3. Gut. 2012. PMID: 22052064
1,338 results