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1.
Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier.
Muscle Nerve
; 2024 Jun 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-38855810
2.
CanVaS: Documenting the genetic variation spectrum of Greek cancer patients.
Hum Mutat
; 42(9): 1081-1093, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34174131
3.
One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.
J Med Genet
; 57(1): 53-61, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31300551
4.
BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects.
Int J Cancer
; 147(5): 1334-1342, 2020 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32022259
5.
Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.
Hum Mutat
; 40(5): 631-648, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30851065
6.
PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk.
J Hum Genet
; 64(8): 767-773, 2019 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-31089269
7.
Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer.
Breast Cancer Res Treat
; 169(1): 105-113, 2018 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-29335925
8.
Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece.
J Hum Genet
; 63(11): 1149-1158, 2018 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-30111881
9.
Characterization and prevalence of two novel CHEK2 large deletions in Greek breast cancer patients.
J Hum Genet
; 63(8): 877-886, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29785007
10.
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
Breast Cancer Res
; 18(1): 112, 2016 11 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27836010
11.
Epidemiological and clinicopathological characteristics of BRCA-positive and BRCA-negative breast cancer patients in Greece.
J BUON
; 20(4): 978-84, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26416046
12.
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
Carcinogenesis
; 35(5): 1012-9, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24325915
13.
Extending the clinical phenotype associated with biallelic NTHL1 germline mutations.
Clin Genet
; 94(6): 588-589, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30248171
14.
Molecular profile and clinical features of patients with gliomas using a broad targeted next generation-sequencing panel.
Oncol Lett
; 25(1): 38, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36589665
15.
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Clin Cancer Res
; 29(16): 3037-3050, 2023 08 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-37449874
16.
Physicians' experience, practice and education, on genetic testing and genetic counseling: a nationwide survey study in Greece.
Fam Cancer
; 21(4): 479-487, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35067824
17.
CHEK2 Pathogenic Variants in Greek Breast Cancer Patients: Evidence for Strong Associations with Estrogen Receptor Positivity, Overuse of Risk-Reducing Procedures and Population Founder Effects.
Cancers (Basel)
; 13(9)2021 Apr 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-33925588
18.
Follow-up of tissue genomics in BRCA1/2 carriers who underwent prophylactic surgeries.
Breast Cancer
; 28(6): 1367-1382, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-34304347
19.
Pathology of BRCA1- and BRCA2-associated Breast Cancers: Known and Less Known Connections.
Clin Breast Cancer
; 20(2): 152-159, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31980407
20.
Prevalence and founder effect of the BRCA1 p.(Val1833Met) variant in the Greek population, with further evidence for pathogenicity and risk modification.
Cancer Genet
; 237: 90-96, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31447071