Search Results - "Hadjisavvas, A"
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1
Assessment of melanoma candidate genes in a meta‐analysis of 16 534 melanoma cases
Published in Journal of the European Academy of Dermatology and Venereology (01-10-2019)Get full text
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2
BRCA1 and BRCA2 mutation testing in Cyprus; a population based study
Published in Clinical genetics (01-04-2017)“…This paper presents the largest study in Cyprus evaluating the frequency and distribution of BRCA1/2 mutations in a high risk patient cohort. Deleterious…”
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Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X
Published in Neurology (14-02-2006)“…To determine the phenotypic and cellular expression of two novel connexin32 (Cx32) mutations causing X-linked Charcot-Marie-Tooth disease (CMT1X). The authors…”
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Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus
Published in Clinical genetics (01-02-2007)“…In Cyprus, the prevalence of breast cancer associated with BRCA1 and BRCA2 mutations in young women is unknown. In this study, we present the results of…”
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5
PR23 BRCA mutations and breast cancer in young women in Cyprus
Published in Breast (Edinburgh) (01-11-2014)Get full text
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Novel germline mutations in the APC gene of Cypriot patients with familial and sporadic adenomatous polyposis
Published in Clinical genetics (01-05-2006)“…Familial adenomatous polyposis (FAP) is one of the two commonest familial syndromes that predispose to colorectal cancer. FAP is caused by mutations in the…”
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7
Morphological Methods in the Diagnosis of Mitochondrial Encephalomyopathies: The Role of Electron Microscopy
Published in Ultrastructural pathology (01-05-2005)“…Mitochondrial encephalomyopathies (MEs) encompass a heterogeneous group of disorders that frequently present a diagnostic challenge to clinicians…”
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8
149P Associations between the 313-SNP polygenic risk score and breast cancer risk in women from Crete
Published in Annals of oncology (01-05-2022)Get full text
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9
Distinct Reproductive Risk Profiles for Intrinsic-Like Breast Cancer Subtypes: Pooled Analysis of Population-Based Studies
Published in JNCI : Journal of the National Cancer Institute (08-12-2022)“…Reproductive factors have been shown to be differentially associated with risk of estrogen receptor (ER)-positive and ER-negative breast cancer. However, their…”
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Immobilized Ag-nanoparticles (iNPs) for environmental applications: Elucidation of immobilized silver-induced inhibition mechanism of Escherichia coli
Published in Journal of environmental chemical engineering (01-10-2021)“…Although silver nanoparticles (AgNPs) appear to be promising for certain medical/pharmaceutical applications, they present significant disadvantages when it…”
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BRCA1 germline mutations in Cypriot breast cancer patients from 26 families with family history
Published in Anticancer research (01-09-2001)“…Germline mutations in the BRCA1 gene are causative for a variable number of hereditary breast/ovarian cancers. The data presented in this study are based on…”
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A comparative morphological study in 33 cases of respiratory chain encephalomyopathies
Published in Acta myologica (01-09-2003)“…Mitochondrial encephalomyopathies (ME) are clinically and genetically heterogeneous syndromes ranging from pure myopathies to complex multisystem disorders…”
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Correlation Between Morphology, Immunohistochemistry and Molecular Pathology in Hereditary and Sporadic Breast Cancer Cases
Published in Ultrastructural pathology (01-07-2002)“…Breast cancer still represents a serious health problem and is currently the most frequent malignancy in the female population in developed countries. In…”
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14
Proteomic analysis in lupus mice identifies Coronin-1A as a potential biomarker for lupus nephritis
Published in Arthritis research & therapy (18-06-2020)“…Approximately 50% of systemic lupus erythematosus (SLE) patients develop nephritis, which is among the most severe and frequent complications of the disease…”
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BRCA1 Mutation Analysis in 27 Cypriot Families with High Risk of Hereditary Breast and Ovarian Cancer
Published in Disease markers (01-01-1999)Get full text
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16
The Role of Electron Microscopy in the Diagnosis of Nonneoplastic Muscle Diseases
Published in Ultrastructural pathology (1997)“…Accurate diagnosis of muscle disease is dependent on a careful clinical examination followed by the appropriate laboratory investigations, which in a…”
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A mutant complement factor H-related 5 protein is associated with familial C3 glomerulonephritis
Published in Molecular immunology (01-09-2009)Get full text
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Short Report: Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus
Published in Clinical genetics (01-02-2007)“…In Cyprus, the prevalence of breast cancer associated with BRCA1 and BRCA2 mutations in young women is unknown. In this study, we present the results of…”
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O-4. The effects of CMT1X mutations in myelinating cells
Published in Acta myologica (01-07-2009)Get full text
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Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer
Published in BMC cancer (07-09-2004)“…Germline mutations in BRCA1 and BRCA2 predispose to breast and ovarian cancer. A multitude of mutations have been described and are found to be scattered…”
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