Detalhe da pesquisa
1.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Lancet Oncol
; 24(1): 91-106, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36436516
2.
Gastric polyps in Familial Adenomatous Polyposis Portuguese patients: the first Western cohort with Asian features.
Pathobiology
; 2023 Oct 18.
Artigo
Inglês
| MEDLINE | ID: mdl-37852192
3.
Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer.
Gastric Cancer
; 26(5): 653-666, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37249750
4.
A systematic review and functional bioinformatics analysis of genes associated with Crohn's disease identify more than 120 related genes.
BMC Genomics
; 23(1): 302, 2022 Apr 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35418025
5.
A systematic review of genetic mutations in pulmonary arterial hypertension.
BMC Med Genet
; 18(1): 82, 2017 08 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28768485
6.
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes.
Eur J Med Genet
; 65(1): 104401, 2022 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-34871783
7.
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD.
Eur J Med Genet
; 65(5): 104475, 2022 May.
Artigo
Inglês
| MEDLINE | ID: mdl-35283344
8.
Histological and mutational profile of diffuse gastric cancer: current knowledge and future challenges.
Mol Oncol
; 15(11): 2841-2867, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33724653
9.
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report.
Eur J Hum Genet
; 29(9): 1354-1358, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34075207
10.
The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing.
Cancers (Basel)
; 13(17)2021 Sep 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34503274
11.
PubTerm: a web tool for organizing, annotating and curating genes, diseases, molecules and other concepts from PubMed records.
Database (Oxford)
; 20192019 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30624653