Violetta Anastasiadou
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View article: Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)—a European cohort study
Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)—a European cohort study Open
View article: The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)
The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS) Open
This study demonstrated that PHTS patients have high second primary cancer risks, which is driven by breast cancer in females. Hence, identifying patients with PHTS before or at first primary cancer diagnosis is essential to enable potenti…
View article: <scp>YME1L1</scp> Dysfunction Associated With 3‐Methylglutaconic Aciduria
<span>YME1L1</span> Dysfunction Associated With 3‐Methylglutaconic Aciduria Open
3‐methylglutaconic aciduria (3‐MGCA) is a biochemical finding in a diverse group of inherited metabolic disorders. Conditions manifesting 3‐MGCA are classified into two major categories, primary and secondary. Primary 3‐MGCAs involve two i…
View article: Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing
Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing Open
Spontaneous pregnancy loss commonly occurs during the first trimester and can be caused by various factors including chromosomal abnormalities and submicroscopic aberrations. After the first trimester, the etiology of most pregnancy losses…
View article: Insulin-Like Growth Factor-1 (IGF-1) Deficiency and Metabolic-Dysfunction-Associated Steatotic Liver Disease in a Young Patient
Insulin-Like Growth Factor-1 (IGF-1) Deficiency and Metabolic-Dysfunction-Associated Steatotic Liver Disease in a Young Patient Open
View article: A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics
A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics Open
Methylmalonic aciduria and homocystinuria, CblC type, is an inborn error of intracellular vitamin B12 (cobalamin) metabolism caused, in the majority of cases, by mutations in the MMACHC gene. Five Cypriot patients (four males and on…
View article: Inherited metabolic disorders in Cyprus
Inherited metabolic disorders in Cyprus Open
View article: Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS) Open
Females with PTEN Hamartoma Tumor Syndrome (PHTS) have breast cancer risks up to 76%. This study assessed associations between breast cancer and lifestyle in European female adult PHTS patients. Data were collected via patient questionnair…
View article: Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies Open
Voltage-gated sodium channels (VGSCs) are responsible for the initiation and propagation of action potentials in the brain and muscle. Pathogenic variants in genes encoding VGSCs have been associated with severe disorders including epilept…
View article: Inherited Metabolic Disorders in Cyprus
Inherited Metabolic Disorders in Cyprus Open
View article: GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing Open
View article: Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort Open
View article: Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome Open
Background PTEN Hamartoma Tumor Syndrome (PHTS) is a rare syndrome with a broad phenotypic spectrum, including increased risks of breast (BC, 67%-78% at age 60 years), endometrial (EC, 19%-28%), and thyroid cancer (TC, 6%-38%). Current ris…
View article: The Landscape of Mucopolysaccharidosis in Southern and Eastern European Countries: A Survey from 19 Specialistic Centers.
The Landscape of Mucopolysaccharidosis in Southern and Eastern European Countries: A Survey from 19 Specialistic Centers. Open
Background: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans. Impaired lysosomal degradation causes cell dysfunction l…
View article: The rare DNA ligase IV syndrome: A case report
The rare DNA ligase IV syndrome: A case report Open
View article: Two unrelated individuals carrying rare mosaic deletions in <i>TCF4</i> gene
Two unrelated individuals carrying rare mosaic deletions in <i>TCF4</i> gene Open
Pitt–Hopkins syndrome (PTHS; MIM #610954) is a rare neurodevelopmental disorder first described in 1978 (Pitt & Hopkins, 1978), with a distinctive phenotype including facial dysmorphias, global developmental delay, severe intellectual disa…
View article: <i><scp>BRCA1</scp></i> and <i><scp>BRCA2</scp></i> mutation testing in Cyprus; a population based study
<i><span>BRCA1</span></i> and <i><span>BRCA2</span></i> mutation testing in Cyprus; a population based study Open
This paper presents the largest study in Cyprus evaluating the frequency and distribution of BRCA1 / 2 mutations in a high risk patient cohort. Deleterious mutations in the BRCA1 / 2 genes were identified in 68 of the 527 patients tested (…
View article: A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder
A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder Open
Approximately 10-15% of intellectual disability (ID) cases are caused by genetic aberrations affecting chromosome X, a condition termed X-linked ID (XLID). Examination by whole-exome sequencing of two male siblings with microcephaly and su…