Detalhe da pesquisa
1.
Insertion of an SVA element in MSH2 as a novel cause of Lynch syndrome.
Genes Chromosomes Cancer
; 60(8): 571-576, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33822432
2.
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
3.
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
4.
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
5.
Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy.
Front Genet
; 14: 1226766, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37795243
6.
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.
Eur J Hum Genet
; 31(1): 97-104, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36253531
7.
Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome.
Hum Mutat
; 33(7): 1051-5, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22461402
8.
Comprehensive genetic analysis of seven large families with mismatch repair proficient colorectal cancer.
Genes Chromosomes Cancer
; 49(6): 539-48, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20222047
9.
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
Hum Mutat
; 31(5): 578-87, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20186688
10.
Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.
Hum Mutat
; 30(1): 107-14, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18693280
11.
Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.
Fam Cancer
; 7(4): 319-30, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18415027
12.
RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing.
Eur J Hum Genet
; 26(8): 1143-1150, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706640
13.
Cancer Risks for PMS2-Associated Lynch Syndrome.
J Clin Oncol
; 36(29): 2961-2968, 2018 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30161022
14.
A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer.
BMC Cancer
; 7: 6, 2007 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-17222328
15.
Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.
PLoS One
; 11(6): e0157381, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27300758
16.
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.
Mol Genet Genomic Med
; 3(4): 327-45, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26247049
17.
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
J Clin Oncol
; 33(4): 319-25, 2015 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25512458
18.
Analysis and interpretation of RNA splicing alterations in genes involved in genetic disorders.
Methods Mol Biol
; 867: 49-63, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22454054
19.
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
Eur J Cancer
; 47(7): 965-82, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21376568
20.
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).
Gastroenterology
; 130(2): 312-22, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16472587