Detalhe da pesquisa
1.
Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement.
Hered Cancer Clin Pract
; 21(1): 19, 2023 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37821984
2.
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Genet Med
; 23(4): 705-712, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33257847
3.
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Genet Med
; 22(9): 1569, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32690931
4.
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Genet Med
; 22(1): 15-25, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31337882
5.
Mutational heterogeneity between different regional tumour grades of clear cell renal cell carcinoma.
Exp Mol Pathol
; 115: 104431, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32259515
6.
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Prenat Diagn
; 40(10): 1300-1309, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32627857
7.
Acquired Human Papilloma Virus Type 6-Associated Epidermodysplasia Verruciformis in a Patient With Systemic Lupus Erythematosus.
Am J Dermatopathol
; 42(11): e156-e158, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32675468
8.
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Genet Med
; 21(7): 1486-1496, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30504929
9.
Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.
J Med Genet
; 55(10): 669-674, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330337
10.
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database.
Gut
; 67(7): 1306-1316, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28754778
11.
NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing.
BMC Bioinformatics
; 19(1): 531, 2018 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30558531
12.
Genetic Screening Test to Detect Translocations in Acute Leukemias by Use of Targeted Locus Amplification.
Clin Chem
; 64(7): 1096-1103, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29794109
13.
ASO Visual Abstract: Surgical Oncologists and Nurses in Breast Cancer Care are Ready to Provide Pre-Test Genetic Counseling.
Ann Surg Oncol
; 30(6): 3261-3262, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36971987
14.
Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.
Br J Cancer
; 117(6): 1215-1223, 2017 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28742792
15.
CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.
Hum Mutat
; 37(5): 457-64, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26864275
16.
Design and Feasibility of an Intervention to Support Cancer Genetic Counselees in Informing their At-Risk Relatives.
J Genet Couns
; 25(6): 1179-1187, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27103421
17.
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
Hum Mutat
; 36(7): 712-9, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25871441
18.
Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis.
J Med Genet
; 51(1): 55-60, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24253443
19.
Development of the Informing Relatives Inventory (IRI): Assessing Index Patients' Knowledge, Motivation and Self-Efficacy Regarding the Disclosure of Hereditary Cancer Risk Information to Relatives.
Int J Behav Med
; 22(4): 551-60, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25515913
20.
High frequency of RPL22 mutations in microsatellite-unstable colorectal and endometrial tumors.
Hum Mutat
; 35(12): 1442-5, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25196364