Detalhe da pesquisa
1.
A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.
Genet Med
; 25(3): 100348, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36571464
2.
A decade of RAD51C and RAD51D germline variants in cancer.
Hum Mutat
; 43(3): 285-298, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34923718
3.
Langerhans cell histiocytosis presenting as Crohn's disease: a case report.
Int J Colorectal Dis
; 33(10): 1501-1504, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29737419
4.
Clinical follow-up and breast and ovarian cancer screening of true BRCA1/2 noncarriers: a qualitative investigation.
Genet Med
; 18(6): 627-34, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26540155
5.
Atypical ADPKD Due to a DNAJB11 Pathogenic Variant: An Educational Case Report.
Can J Kidney Health Dis
; 10: 20543581231203054, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37867501
6.
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.
Genes (Basel)
; 14(2)2023 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833203
7.
Genetic Dissection of Primary Aldosteronism in a Patient With MEN1 and Ipsilateral Adrenocortical Carcinoma and Adenoma.
J Clin Endocrinol Metab
; 108(1): 26-32, 2022 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36179244
8.
Amyloid Deposits in a Functionally Unicuspid Stenotic Aortic Valve.
CJC Open
; 4(12): 1069-1073, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36562019
9.
Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.
Genes (Basel)
; 13(4)2022 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456503
10.
The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population.
Cancers (Basel)
; 14(9)2022 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35565380
11.
Whether, when, how, and how much? General public's and cancer patients' views about the disclosure of genomic secondary findings.
BMC Med Genomics
; 14(1): 167, 2021 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34174888
12.
Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.
NPJ Breast Cancer
; 7(1): 109, 2021 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34433815
13.
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.
Genome Med
; 13(1): 186, 2021 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861889
14.
Small adrenal incidentaloma becoming an aggressive adrenocortical carcinoma in a patient carrying a germline APC variant.
Endocrine
; 68(1): 203-209, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32088909