Detalhe da pesquisa
1.
Mechanisms and therapeutic implications of hypermutation in gliomas.
Nature
; 580(7804): 517-523, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32322066
2.
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.
J Med Genet
; 61(2): 158-162, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37775264
3.
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
Genes Chromosomes Cancer
; 62(4): 210-222, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36502525
4.
Performance of Next-Generation Sequencing for the Detection of Microsatellite Instability in Colorectal Cancer With Deficient DNA Mismatch Repair.
Gastroenterology
; 161(3): 814-826.e7, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33992635
5.
Methylation Tolerance-Based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome.
Gastroenterology
; 157(2): 421-431, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30998989
6.
Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.
Gastric Cancer
; 22(4): 899-903, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30515673
7.
HSP110 T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancer.
J Med Genet
; 53(6): 377-84, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26831756
8.
Inflammatory/juvenile-like polyps in neurofibromatosis type 1 associated with epithelial dysplasia.
Virchows Arch
; 484(5): 865-868, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38396165
9.
Next-Generation-Sequencing on fine needle aspirates in neck recurrence of thyroid cancers.
Eur Thyroid J
; 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38236745
10.
Complete resection of ulcerating, infiltrative, voluminous differentiated thyroid carcinoma.
Eur Thyroid J
; 11(2)2022 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35113038
11.
Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data.
Eur J Hum Genet
; 30(10): 1187-1190, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35277653
12.
Detection of BRAFV600E by digital PCR on fine-needle aspirate enables rapid initiation of dabrafenib and trametinib in unresectable anaplastic thyroid carcinoma.
Eur J Endocrinol
; 187(3): K33-K38, 2022 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35900324
13.
Evaluation of two new highly multiplexed PCR assays as an alternative to next-generation sequencing for IDH1/2 mutation detection.
Mol Oncol
; 16(22): 3916-3926, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36062346
14.
Possible Primary Thyroid Nuclear Protein in Testis Carcinomas with NSD3::NUTM1 Translocation Revealed by RNA Sequencing: A Report of Two Cases.
Thyroid
; 32(10): 1271-1276, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35880417
15.
Low-Coverage Whole Genome Sequencing of Cell-Free DNA From Immunosuppressed Cancer Patients Enables Tumor Fraction Determination and Reveals Relevant Copy Number Alterations.
Front Cell Dev Biol
; 9: 661272, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34710202
16.
Concordance Between Tumor and Germline BRCA Status in High-Grade Ovarian Carcinoma Patients in the Phase III PAOLA-1/ENGOT-ov25 Trial.
J Natl Cancer Inst
; 113(7): 917-923, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33372675
17.
IDH-wildtype lower-grade diffuse gliomas: the importance of histological grade and molecular assessment for prognostic stratification.
Neuro Oncol
; 23(6): 955-966, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33173941
18.
Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring.
Eur J Hum Genet
; 28(11): 1624-1628, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32678338
19.
Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic.
Eur J Med Genet
; 63(12): 104098, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33186762
20.
Identification of Positively and Negatively Selected Driver Gene Mutations Associated With Colorectal Cancer With Microsatellite Instability.
Cell Mol Gastroenterol Hepatol
; 6(3): 277-300, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30116770