Detalhe da pesquisa
1.
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
2.
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees.
J Med Genet
; 61(3): 284-288, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37748860
3.
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
4.
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clin Genet
; 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38424388
5.
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency.
J Med Genet
; 60(7): 679-684, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36411031
6.
APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
J Med Genet
; 60(5): 460-463, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270768
7.
Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication.
J Med Genet
; 60(12): 1206-1209, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37263769
8.
MSH3: a confirmed predisposing gene for adenomatous polyposis.
J Med Genet
; 60(12): 1198-1205, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37402566
9.
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
10.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Lancet Oncol
; 24(1): 91-106, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36436516
11.
First report of medulloblastoma in a patient with MUTYH-associated polyposis.
Neuropathol Appl Neurobiol
; 49(4): e12929, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37524406
12.
Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood.
Clin Genet
; 104(1): 107-113, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36974006
13.
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
J Med Genet
; 59(4): 318-327, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33622763
14.
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants.
J Med Genet
; 59(12): 1189-1195, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36038258
15.
Co-occurrence of germline BRCA1 and CDH1 pathogenic variants.
J Med Genet
; 58(6): 357-361, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576655
16.
Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation.
Breast Cancer Res
; 23(1): 79, 2021 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34344426
17.
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
18.
Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.
Genet Med
; 22(9): 1533-1541, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32424176
19.
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers.
Genet Med
; 22(9): 1524-1532, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32398773
20.
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
Genet Med
; 22(10): 1653-1666, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32665703