Search details
1.
Lynch Syndrome Genetics and Clinical Implications.
Gastroenterology
; 164(5): 783-799, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36706841
2.
PMS2 expression decrease causes severe problems in mismatch repair.
Hum Mutat
; 40(7): 904-907, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30946512
3.
Mlh1 deficiency in normal mouse colon mucosa associates with chromosomally unstable colon cancer.
Carcinogenesis
; 39(6): 788-797, 2018 05 28.
Article
in English
| MEDLINE | ID: mdl-29701748
4.
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.
Hum Mutat
; 38(1): 64-77, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27629256
5.
Disorders of DNA repair mechanisms and their clinical significance.
Duodecim
; 133(3): 259-5, 2017.
Article
in English
| MEDLINE | ID: mdl-29205024
6.
Assessing how reduced expression levels of the mismatch repair genes MLH1, MSH2, and MSH6 affect repair efficiency.
Hum Mutat
; 35(9): 1123-7, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24924810
7.
Mitotic abnormalities precede microsatellite instability in lynch syndrome-associated colorectal tumourigenesis.
EBioMedicine
; 103: 105111, 2024 Apr 06.
Article
in English
| MEDLINE | ID: mdl-38583260
8.
Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity.
Cancer Res Commun
; 3(3): 361-370, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36875157
9.
Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.
Hum Mutat
; 33(8): 1294-301, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22581703
10.
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
Hum Mutat
; 33(12): 1647-55, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-22753075
11.
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
Hum Mutat
; 32(1): 107-15, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21120944
12.
The first functional study of MLH3 mutations found in cancer patients.
Genes Chromosomes Cancer
; 47(9): 803-9, 2008 Sep.
Article
in English
| MEDLINE | ID: mdl-18521850
13.
DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.
EBioMedicine
; 39: 280-291, 2019 Jan.
Article
in English
| MEDLINE | ID: mdl-30578081
14.
Mechanisms of pathogenicity in human MSH2 missense mutants.
Hum Mutat
; 29(11): 1355-63, 2008 Nov.
Article
in English
| MEDLINE | ID: mdl-18951462
15.
Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.
Int J Cancer
; 123(3): 720-4, 2008 Aug 01.
Article
in English
| MEDLINE | ID: mdl-18470917
16.
Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).
Hum Mutat
; 28(7): 683-93, 2007 Jul.
Article
in English
| MEDLINE | ID: mdl-17370310
17.
Conditional nuclear localization of hMLH3 suggests a minor activity in mismatch repair and supports its role as a low-risk gene in HNPCC.
Oncol Rep
; 17(2): 351-4, 2007 Feb.
Article
in English
| MEDLINE | ID: mdl-17203173
18.
Western diet enhances intestinal tumorigenesis in Min/+ mice, associating with mucosal metabolic and inflammatory stress and loss of Apc heterozygosity.
J Nutr Biochem
; 39: 126-133, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27833053
19.
Western Diet Deregulates Bile Acid Homeostasis, Cell Proliferation, and Tumorigenesis in Colon.
Cancer Res
; 77(12): 3352-3363, 2017 06 15.
Article
in English
| MEDLINE | ID: mdl-28416481
20.
The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC.
Int J Oncol
; 28(1): 149-53, 2006 Jan.
Article
in English
| MEDLINE | ID: mdl-16327991