Detalhe da pesquisa
1.
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Lancet Oncol
; 25(5): 668-682, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38552658
2.
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Clin Chem
; 70(5): 737-746, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531023
3.
Using comprehensive genomic and functional analyses for resolving genotype-phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study.
Hum Genet
; 142(4): 563-576, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36790526
4.
Germline-driven replication repair-deficient high-grade gliomas exhibit unique hypomethylation patterns.
Acta Neuropathol
; 140(5): 765-776, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32895736
5.
Position paper: Challenges and specific strategies for constitutional mismatch repair deficiency syndrome in low-resource settings.
Pediatr Blood Cancer
; 67(8): e28309, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32472748
6.
Preclinical vascular alterations in obese adolescents detected by Laser-Doppler Flowmetry technique.
Nutr Metab Cardiovasc Dis
; 30(2): 306-312, 2020 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31653517
7.
Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD).
Neuropathol Appl Neurobiol
; 49(1): e12862, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36341503
8.
Mid-regional-pro-adrenomedullin plasma levels are increased in obese adolescents.
Eur J Nutr
; 55(3): 1255-60, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26018656
9.
Passaged Articular Chondrocytes From the Superficial Zone and Deep Zone Can Regain Zone-Specific Properties After Redifferentiation.
Am J Sports Med
; 52(4): 1075-1087, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38419462
10.
Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome.
NPJ Precis Oncol
; 8(1): 110, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38773265
11.
Combined Immunotherapy Improves Outcome for Replication-Repair-Deficient (RRD) High-Grade Glioma Failing Anti-PD-1 Monotherapy: A Report from the International RRD Consortium.
Cancer Discov
; 14(2): 258-273, 2024 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37823831
12.
Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.
bioRxiv
; 2023 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36824744
13.
Efficacy of Nivolumab in Pediatric Cancers with High Mutation Burden and Mismatch Repair Deficiency.
Clin Cancer Res
; 29(23): 4770-4783, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37126021
14.
Genomic Microsatellite Signatures Identify Germline Mismatch Repair Deficiency and Risk of Cancer Onset.
J Clin Oncol
; 41(4): 766-777, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36240479
15.
Nuclear damage in peripheral lymphocytes of obese and overweight Italian children as evaluated by the gamma-H2AX focus assay and micronucleus test.
FASEB J
; 25(2): 685-93, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21068397
16.
Germline Biallelic Mismatch Repair Deficiency in Childhood Glioblastoma and Implications for Clinical Management.
Neurol India
; 70(2): 772-774, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35532657
17.
Peripheral Arterial Tonometry (EndoPAT)-measured Endothelial Dysfunction in Migraine with Aura children.
Acta Biomed
; 92(S4): e2021345, 2022 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35441605
18.
Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency.
Nat Med
; 28(1): 125-135, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34992263
19.
Endoglin Level Is Critical for Cartilage Tissue Formation In Vitro by Passaged Human Chondrocytes.
Tissue Eng Part A
; 27(17-18): 1140-1150, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33323019
20.
DNA Polymerase and Mismatch Repair Exert Distinct Microsatellite Instability Signatures in Normal and Malignant Human Cells.
Cancer Discov
; 11(5): 1176-1191, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33355208