Read more about the article Genetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia.
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Genetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia.

Abstract Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder primarily caused by mutants in the CYP21A2 gene. Heterozygosity for CYP21A2 mutations in females increases their risk of clinically…

Continue ReadingGenetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia.
Read more about the article Investigation of SCA10 in the Cypriot population: further exclusion of SCA dynamic repeat mutations.
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Investigation of SCA10 in the Cypriot population: further exclusion of SCA dynamic repeat mutations.

Abstract Autosomal dominant cerebellar ataxias (ADCAs) encompass a heterogeneous group of rare diseases that affect the cerebellum and its connections. The most common forms have been associated with dynamic mutations…

Continue ReadingInvestigation of SCA10 in the Cypriot population: further exclusion of SCA dynamic repeat mutations.
Read more about the article KIF1Bβ transports dendritically localized mRNPs in neurons and is recruited to synapses in an activity-dependent manner.
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KIF1Bβ transports dendritically localized mRNPs in neurons and is recruited to synapses in an activity-dependent manner.

Abstract KIF1Bβ is a kinesin-like, microtubule-based molecular motor protein involved in anterograde axonal vesicular transport in vertebrate and invertebrate neurons. Certain KIF1Bβ isoforms have been implicated in different forms of…

Continue ReadingKIF1Bβ transports dendritically localized mRNPs in neurons and is recruited to synapses in an activity-dependent manner.
Read more about the article Intraperitoneal melatonin is not neuroprotective in the G93ASOD1 transgenic mouse model of familial ALS and may exacerbate neurodegeneration.
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Intraperitoneal melatonin is not neuroprotective in the G93ASOD1 transgenic mouse model of familial ALS and may exacerbate neurodegeneration.

Abstract In amyotrophic lateral sclerosis (ALS) reactive oxygen species and apoptosis are implicated in disease pathogenesis. Melatonin with its anti-oxidant and anti-apoptotic properties is expected to ameliorate disease phenotype. The…

Continue ReadingIntraperitoneal melatonin is not neuroprotective in the G93ASOD1 transgenic mouse model of familial ALS and may exacerbate neurodegeneration.
Read more about the article Reconstruction of the evolutionary dynamics of hepatitis C virus subtypes in Montenegro and the Balkan region.
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Reconstruction of the evolutionary dynamics of hepatitis C virus subtypes in Montenegro and the Balkan region.

Abstract More than 20 million hepatitis C virus (HCV) carriers live in the countries of the Eastern Mediterranean. We determined HCV genotype distribution among chronically infected patients in Montenegro and…

Continue ReadingReconstruction of the evolutionary dynamics of hepatitis C virus subtypes in Montenegro and the Balkan region.
Read more about the article High carrier frequency of 21-hydroxylase deficiency in Cyprus.
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High carrier frequency of 21-hydroxylase deficiency in Cyprus.

Abstract Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder caused by mutations in the CYP21A2 gene. The carrier frequency of CYP21A2 mutations has…

Continue ReadingHigh carrier frequency of 21-hydroxylase deficiency in Cyprus.
Read more about the article A novel oral nutraceutical formula of omega-3 and omega-6 fatty acids with vitamins (PLP10) in relapsing remitting multiple sclerosis: a randomised, double-blind, placebo-controlled proof-of-concept clinical trial.
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A novel oral nutraceutical formula of omega-3 and omega-6 fatty acids with vitamins (PLP10) in relapsing remitting multiple sclerosis: a randomised, double-blind, placebo-controlled proof-of-concept clinical trial.

Abstract To assess whether three novel interventions, formulated based on a systems medicine therapeutic concept, reduced disease activity in patients with relapsing-remitting multiple sclerosis (MS) who were either treated or…

Continue ReadingA novel oral nutraceutical formula of omega-3 and omega-6 fatty acids with vitamins (PLP10) in relapsing remitting multiple sclerosis: a randomised, double-blind, placebo-controlled proof-of-concept clinical trial.
Read more about the article Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
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Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.

Abstract β-Thalassaemia is one of the most common autosomal recessive single-gene disorder worldwide, with a carrier frequency of 12% in Cyprus. Prenatal tests for at risk pregnancies use invasive methods…

Continue ReadingNext generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
Read more about the article Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.
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Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.

Abstract Array Comparative Genomic Hybridization analysis is replacing postnatal chromosomal analysis in cases of intellectual disabilities, and it has been postulated that it might also become the first-tier test in…

Continue ReadingImplementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.
Read more about the article 263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.
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263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.

Abstract Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes. It is mainly characterized by severe intellectual disability, overbreathing, a…

Continue Reading263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.