Detalhe da pesquisa
1.
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
2.
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Am J Hum Genet
; 108(10): 1907-1923, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34597585
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Can abnormal chromatin folding cause high-penetrance cancer predisposition?
Physiol Genomics
; 54(10): 380-388, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36036457
9.
Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort.
Clin Genet
; 96(6): 579-584, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31432501
10.
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.
Am J Med Genet A
; 176(1): 151-155, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130637
11.
Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers.
Reprod Biomed Online
; 35(4): 372-378, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28711302
12.
Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.
J Natl Cancer Inst
; 116(4): 580-587, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38060262
13.
Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement.
Breast
; 73: 103620, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38096711
14.
Direct-to-consumer misleading information on cancer risks calls for an urgent clarification of health genetic testing performed by commercial companies.
Eur J Cancer
; 132: 100-103, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32335476
15.
Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know.
Front Genet
; 10: 895, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31616476
16.
Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.
Eur J Hum Genet
; 26(11): 1597-1602, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967336