Detalhe da pesquisa
1.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gastroenterology
; 164(4): 579-592.e8, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586540
2.
Is HLA type a possible cancer risk modifier in Lynch syndrome?
Int J Cancer
; 152(10): 2024-2031, 2023 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214792
3.
The Different Immune Profiles of Normal Colonic Mucosa in Cancer-Free Lynch Syndrome Carriers and Lynch Syndrome Colorectal Cancer Patients.
Gastroenterology
; 162(3): 907-919.e10, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34863788
4.
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
Hum Mutat
; 43(1): 85-96, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34816535
5.
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
6.
Sequencing-based microsatellite instability testing using as few as six markers for high-throughput clinical diagnostics.
Hum Mutat
; 41(1): 332-341, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31471937
7.
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Genet Med
; 22(12): 2081-2088, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32773772
8.
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Hum Mutat
; 40(5): 649-655, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740824
9.
Analysis of human ES cell differentiation establishes that the dominant isoforms of the lncRNAs RMST and FIRRE are circular.
BMC Genomics
; 19(1): 276, 2018 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29678151
10.
Three molecular pathways model colorectal carcinogenesis in Lynch syndrome.
Int J Cancer
; 143(1): 139-150, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29424427
11.
Response to 'Cutaneous squamous cell carcinoma is associated with Lynch syndrome: widening the spectrum of Lynch syndrome-associated tumours'.
Br J Dermatol
; 186(5): 913-914, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35322414
12.
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.
NPJ Precis Oncol
; 8(1): 119, 2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38789506
13.
Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors.
Front Oncol
; 13: 1147591, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37143941
14.
Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report.
Front Oncol
; 13: 1195814, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37664053
15.
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.
Biomolecules
; 12(10)2022 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36291559
16.
Detection of Microsatellite Instability in Colonoscopic Biopsies and Postal Urine Samples from Lynch Syndrome Cancer Patients Using a Multiplex PCR Assay.
Cancers (Basel)
; 14(15)2022 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35954501
17.
How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies.
Cancers (Basel)
; 13(3)2021 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33499123
18.
A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo.
Nat Genet
; 52(2): 146-159, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32060489
19.
Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia.
Leuk Lymphoma
; 64(1): 217-220, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36272172
20.
A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours.
PLoS One
; 13(8): e0203052, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30157243