Detalhe da pesquisa
1.
Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome.
Genes Chromosomes Cancer
; 63(5): e23237, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38722212
2.
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Am J Hum Genet
; 108(9): 1692-1709, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34375587
3.
Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.
Mod Pathol
; 36(9): 100240, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37307877
4.
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
5.
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
6.
The coding microsatellite mutation profile of PMS2-deficient colorectal cancer.
Exp Mol Pathol
; 122: 104668, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34302852
7.
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
8.
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
9.
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Am J Hum Genet
; 108(11): 2206, 2021 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34739836
10.
Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2.
Gastroenterology
; 155(3): 844-851, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29758216
11.
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Genet Med
; 21(12): 2706-2712, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31204389
12.
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report.
Hered Cancer Clin Pract
; 17: 28, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31636762
13.
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
Hum Mutat
; 37(11): 1162-1179, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27435373
14.
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
Genet Med
; 18(4): 405-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26110232
15.
MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome.
J Mol Diagn
; 26(2): 106-114, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38061582
16.
PMS2-associated Lynch syndrome: Past, present and future.
Front Oncol
; 13: 1127329, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36895471
17.
The diverse molecular profiles of lynch syndrome-associated colorectal cancers are (highly) dependent on underlying germline mismatch repair mutations.
Crit Rev Oncol Hematol
; 163: 103338, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34044097
18.
Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Eur J Cancer
; 148: 124-133, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33743481
19.
A PMS2-specific colorectal surveillance guideline.
Genet Med
; 17(8): 684, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26240978
20.
Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy.
Eur J Hum Genet
; 28(2): 222-230, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31527860