Detalhe da pesquisa
1.
TET1 and TDG Suppress Inflammatory Response in Intestinal Tumorigenesis: Implications for Colorectal Tumors With the CpG Island Methylator Phenotype.
Gastroenterology
; 164(6): 921-936.e1, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36764492
2.
Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.
Br J Surg
; 111(5)2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38722804
3.
Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk.
J Med Genet
; 60(11): 1035-1043, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076288
4.
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
J Med Genet
; 60(6): 557-567, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270769
5.
Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.
Mol Genet Genomics
; 298(3): 555-566, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36856825
6.
Identification of antisense and sense RNAs of intracrine fibroblast growth factor components as novel biomarkers in colorectal cancer and in silico studies for drug and nanodrug repurposing.
Environ Res
; 239(Pt 1): 117117, 2023 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37805185
7.
TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes.
Gut
; 70(6): 1139-1146, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32998877
8.
Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer.
Gastroenterology
; 159(1): 227-240.e7, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32179092
9.
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility.
J Med Genet
; 57(10): 677-682, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32170005
10.
Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review.
Hum Mutat
; 41(9): 1563-1576, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32449991
11.
Role of POLE and POLD1 in familial cancer.
Genet Med
; 22(12): 2089-2100, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32792570
12.
Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.
Am J Med Genet A
; 182(11): 2742-2745, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32896090
13.
Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine.
J Pathol
; 247(5): 574-588, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30584801
14.
Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes.
Hum Mutat
; 40(11): 1910-1923, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31243857
15.
Lynch Syndrome: A Single Hereditary Cancer Syndrome or Multiple Syndromes Defined by Different Mismatch Repair Genes?
Gastroenterology
; 165(1): 20-23, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37142200
16.
Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.
Gastroenterology
; 154(1): 181-194.e20, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28912018
17.
A Mediterranean Diet with an Enhanced Consumption of Extra Virgin Olive Oil and Pistachios Improves Pregnancy Outcomes in Women Without Gestational Diabetes Mellitus: A Sub-Analysis of the St. Carlos Gestational Diabetes Mellitus Prevention Study.
Ann Nutr Metab
; 74(1): 69-79, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30554220
18.
Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis.
Hum Mutat
; 39(9): 1214-1225, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29900613
19.
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis.
Mol Cancer
; 17(1): 23, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29448935
20.
Colon-specific eQTL analysis to inform on functional SNPs.
Br J Cancer
; 119(8): 971-977, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30283144