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1.
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome.
J Med Genet
; 60(8): 747-759, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36593122
2.
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
J Med Genet
; 60(6): 557-567, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36270769
3.
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.
J Med Genet
; 59(10): 976-983, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-34911816
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34469588
5.
Value of upper gastrointestinal endoscopy for gastric cancer surveillance in patients with Lynch syndrome.
Int J Cancer
; 148(1): 106-114, 2021 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32930401
6.
Early detection of duodenal cancer by upper gastrointestinal-endoscopy in Lynch syndrome.
Int J Cancer
; 149(12): 2052-2062, 2021 12 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-34331771
7.
The "unnatural" history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance.
Int J Cancer
; 148(4): 800-811, 2021 02 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-32683684
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31926173
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33257847
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34392332
11.
Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics.
Int J Cancer
; 147(10): 2801-2810, 2020 11 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-32875553
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32690931
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31337882
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32448342
15.
[Rare tumors as leading symptom of hereditary tumor syndromes]. / Seltene Tumoren als Leitsymptom hereditärer Tumorsyndrome.
Pathologe
; 41(5): 535-549, 2020 Sep.
Artículo
en Alemán
| MEDLINE | ID: mdl-32780213
16.
No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies.
Gastroenterology
; 155(5): 1400-1409.e2, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30063918
17.
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report.
Hered Cancer Clin Pract
; 17: 28, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31636762
18.
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.
Hered Cancer Clin Pract
; 17: 8, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30858900
19.
[Current recommendations for surveillance, risk reduction and therapy in Lynch syndrome patients]. / Empfehlungen zur Früherkennung, Risikoreduktion, Überwachung und Therapie bei Patienten mit Lynch-Syndrom.
Z Gastroenterol
; 57(11): 1309-1320, 2019 Nov.
Artículo
en Alemán
| MEDLINE | ID: mdl-31739377
20.
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
Int J Cancer
; 143(11): 2800-2813, 2018 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29987844