Detalhe da pesquisa
1.
Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
Brain
; 146(5): 1831-1843, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36227727
2.
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
Brain
; 146(4): 1388-1402, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36100962
3.
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome.
J Med Genet
; 60(8): 747-759, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36593122
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.
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
em Inglês
| MEDLINE | ID: mdl-36436516
6.
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.
J Med Genet
; 59(10): 976-983, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34911816
7.
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
8.
Adenoma and colorectal cancer risks in Lynch syndrome, Lynch-like syndrome and familial colorectal cancer type X.
Int J Cancer
; 150(1): 56-66, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34469588
9.
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.
Hered Cancer Clin Pract
; 20(1): 36, 2022 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182917
10.
Early detection of duodenal cancer by upper gastrointestinal-endoscopy in Lynch syndrome.
Int J Cancer
; 149(12): 2052-2062, 2021 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34331771
11.
Value of upper gastrointestinal endoscopy for gastric cancer surveillance in patients with Lynch syndrome.
Int J Cancer
; 148(1): 106-114, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32930401
12.
The "unnatural" history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance.
Int J Cancer
; 148(4): 800-811, 2021 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32683684
13.
Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome.
Gastroenterology
; 158(5): 1326-1333, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31926173
14.
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
15.
Liquid Biopsy Hotspot Variant Assays: Analytical Validation for Application in Residual Disease Detection and Treatment Monitoring.
Clin Chem
; 67(11): 1483-1491, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34392332
16.
Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes.
Hum Mutat
; 41(5): 1025-1032, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32048431
17.
Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics.
Int J Cancer
; 147(10): 2801-2810, 2020 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875553
18.
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
19.
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
20.
Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study.
BMC Cancer
; 20(1): 460, 2020 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32448342