Detalhe da pesquisa
1.
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
2.
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.
Int J Mol Sci
; 21(7)2020 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32235485
3.
GeMSTONE: orchestrated prioritization of human germline mutations in the cloud.
Nucleic Acids Res
; 45(W1): W207-W214, 2017 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28521008
4.
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.
Genet Med
; 17(2): 131-42, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25058500
5.
Genetic susceptibility variants associated with colorectal cancer prognosis.
Carcinogenesis
; 34(10): 2286-91, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23712746
6.
BRIP1, a Gene Potentially Implicated in Familial Colorectal Cancer Type X.
Cancer Prev Res (Phila)
; 14(2): 185-194, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33115781
7.
Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer.
Cancers (Basel)
; 11(3)2019 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30871259
8.
POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.
Oncotarget
; 8(16): 26732-26743, 2017 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28423643
9.
Genetic Variants Associated with Colorectal Adenoma Susceptibility.
PLoS One
; 11(4): e0153084, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27078840
10.
The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.
Eur J Hum Genet
; 24(10): 1501-5, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27165003
11.
New genes emerging for colorectal cancer predisposition.
World J Gastroenterol
; 20(8): 1961-71, 2014 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-24587672
12.
The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.
PLoS One
; 9(4): e95022, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24743384
13.
Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis.
J Genet Genomics
; 45(1): 41-45, 2018 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29396139