Detalhe da pesquisa
1.
Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.
Hum Mutat;
43(9): 1249-1258, 2022 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35451539
2.
Induction of mismatch repair deficiency, compromised DNA damage signaling and compound hypermutagenesis by a dietary mutagen in a cell-based model for Lynch syndrome.
Carcinogenesis;
43(2): 160-169, 2022 03 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34919656
3.
Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer.
Genes Chromosomes Cancer;
2020 Jul 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32615015
4.
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.
Genet Med;
22(5): 847-856, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31965077
5.
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
6.
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
7.
Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.
Proc Natl Acad Sci U S A;
110(23): 9403-8, 2013 Jun 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23690608
8.
Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.
Mol Carcinog;
54(7): 513-22, 2015 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24302565
9.
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
Hum Mutat;
34(11): 1477-80, 2013 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24027009
10.
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
Hum Mutat;
33(3): 488-94, 2012 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22102614
11.
Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.
Hum Mutat;
33(12): 1617-25, 2012 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22833534
12.
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
Hum Mutat;
33(12): 1647-55, 2012 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22753075
13.
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
Hum Mutat;
31(3): 247-53, 2010 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20020535
14.
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Front Genet;
11: 798, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32849802
15.
Response to: Design of a core classification process for DNA mismatch repair variations of a priori unknown functional significance.
Hum Mutat;
34(6): 923-4, 2013 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23554108
16.
Adjuvant Treatment for POLE Proofreading Domain-Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues.
Clin Cancer Res;
24(13): 3197-3203, 2018 07 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29559562
17.
Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.
Mol Genet Genomic Med;
2(4): 352-5, 2014 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25077178
18.
DNA mismatch repair: from biophysics to bedside.
DNA Repair (Amst);
38: 1-2, 2016 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26777339