Detalhe da pesquisa
1.
REEV: review, evaluate and explain variants.
Nucleic Acids Res
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38769069
2.
Intestinal region-specific Wnt signalling profiles reveal interrelation between cell identity and oncogenic pathway activity in cancer development.
Cancer Cell Int
; 20(1): 578, 2020 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33292279
3.
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
Am J Hum Genet
; 99(2): 337-51, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27476653
4.
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Hered Cancer Clin Pract
; 17: 5, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30680046
5.
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.
J Med Genet
; 53(3): 172-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26613750
6.
Prophylactic total gastrectomy in the management of hereditary tumor syndromes.
Int J Colorectal Dis
; 31(12): 1825-1833, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27682646
7.
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
Int J Cancer
; 137(2): 320-31, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25529843
8.
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
Int J Cancer
; 136(6): E578-89, 2015 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25219767
9.
A CRM1-dependent nuclear export pathway is involved in the regulation of MutLα subcellular localization.
Genes Chromosomes Cancer
; 50(2): 59-70, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21064154
10.
Development of a miRNA-based classifier for detection of colorectal cancer molecular subtypes.
Mol Oncol
; 16(14): 2693-2709, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35298091
11.
The recurring features of molecular subtypes in distinct gastrointestinal malignancies-A systematic review.
Crit Rev Oncol Hematol
; 164: 103428, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34284100
12.
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.
PLoS One
; 16(11): e0259185, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34843512
13.
Stem cell functionality is microenvironmentally defined during tumour expansion and therapy response in colon cancer.
Nat Cell Biol
; 20(10): 1193-1202, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30177776
14.
Chromoendoscopy in combination with random biopsies does not improve detection of gastric cancer foci in CDH1 mutation positive patients.
Endosc Int Open
; 4(12): E1305-E1310, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27995193
15.
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
Fam Cancer
; 15(2): 281-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26780541
16.
De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis.
Mol Cytogenet
; 7(1): 7, 2014 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-24456940
17.
C-terminal fluorescent labeling impairs functionality of DNA mismatch repair proteins.
PLoS One
; 7(2): e31863, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22348133