Detalhe da pesquisa
1.
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
2.
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene.
J Med Genet
; 59(2): 180-188, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33436523
3.
Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.
Int J Mol Sci
; 23(13)2022 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35806449
4.
Genetic testing results in Slovenian male breast cancer cohort indicate the BRCA2 7806-2A > G founder variant could be associated with higher male breast cancer risk.
Breast Cancer Res Treat
; 188(3): 811-820, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33891299
5.
Bilateral Disease Common Among Slovenian CHEK2-Positive Breast Cancer Patients.
Ann Surg Oncol
; 28(5): 2561-2570, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33030641
6.
Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation.
Genet Med
; 18(11): 1102-1110, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27031083
7.
A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5.
BMC Med Genet
; 15: 21, 2014 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-24517234
8.
Challenges in the management of operable triple-negative breast cancer in a survivor of the B-cell acute lymphoblastic leukemia: a case report.
Front Oncol
; 14: 1404706, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38817905
9.
A Population-Based Study of Patients With Small Cell Carcinoma of the Ovary, Hypercalcemic Type, Encompassing a 30-Year Period.
Arch Pathol Lab Med
; 148(3): 299-309, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37270804
10.
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS).
Cancers (Basel)
; 16(5)2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38473316
11.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
HGG Adv
; 5(2): 100273, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38297832
12.
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome.
J Natl Cancer Inst
; 115(1): 93-103, 2023 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36171661
13.
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
medRxiv
; 2023 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37808847
14.
Medullary Thyroid Carcinoma and Associated Endocrinopathies in Slovenia from 1995 to 2021.
Life (Basel)
; 12(7)2022 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35888179
15.
Bilateral parotid glands aplasia: a case report and literature review.
Oral Radiol
; 38(3): 423-429, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35076829
16.
BAP1-defficient breast cancer in a patient with BAP1 cancer syndrome.
Breast Cancer
; 29(5): 921-927, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35381901
17.
Real-World Data on Detection of Germline and Somatic Pathogenic/Likely Pathogenic Variants in BRCA1/2 and Other Susceptibility Genes in Ovarian Cancer Patients Using Next Generation Sequencing.
Cancers (Basel)
; 14(6)2022 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35326583
18.
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.
Eur J Med Genet
; 65(12): 104632, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270489
19.
New Approach for Detection of Normal Alternative Splicing Events and Aberrant Spliceogenic Transcripts with Long-Range PCR and Deep RNA Sequencing.
Biology (Basel)
; 10(8)2021 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34439939
20.
Trends and timing of risk-reducing mastectomy uptake in unaffected BRCA1 and BRCA2 carriers in Slovenia.
Eur J Surg Oncol
; 47(8): 1900-1906, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33812767