Read more about the article How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
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How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?

Abstract The X-linked form of Charcot-Marie-Tooth disease (CMT1X) is the second most common form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive weakness, atrophy, and…

Continue ReadingHow do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
Read more about the article Is suppression of cyst growth in PKD enough to preserve renal function?: STAT6 inhibition is a novel promising target.
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Is suppression of cyst growth in PKD enough to preserve renal function?: STAT6 inhibition is a novel promising target.

Abstract The autosomal dominant form of polycystic kidney disease (ADPKD) is one of the most frequent monogenic disorders and the most frequent among inherited kidney disorders. In fact it has…

Continue ReadingIs suppression of cyst growth in PKD enough to preserve renal function?: STAT6 inhibition is a novel promising target.
Read more about the article Homocysteine levels and MTHFR polymorphisms in young patients with acute myocardial infarction: a case control study.
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Homocysteine levels and MTHFR polymorphisms in young patients with acute myocardial infarction: a case control study.

Abstract Increased levels of homocysteine are known to be associated with coronary artery disease (CAD). The most common form of genetic hyperhomocysteinemia results from MTHFR polymorphisms. To examine the role…

Continue ReadingHomocysteine levels and MTHFR polymorphisms in young patients with acute myocardial infarction: a case control study.
Read more about the article Morphology and phylogeny of Reticulitermes sp. (Isoptera, Rhinotermitidae) from Cyprus.
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Morphology and phylogeny of Reticulitermes sp. (Isoptera, Rhinotermitidae) from Cyprus.

Abstract Taxonomy and phylogeny of termites of the genus Reticulitermes in central and eastern Mediterranean lands are poorly understood, partly due to insufficient sampling. This study aims to contribute to…

Continue ReadingMorphology and phylogeny of Reticulitermes sp. (Isoptera, Rhinotermitidae) from Cyprus.
Read more about the article Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications.
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Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications.

Abstract Non-invasive prenatal diagnosis (NIPD) has substantial medical importance as it targets the development of safer and more effective methods to avoid the risk of fetal loss associated with currently…

Continue ReadingNon-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications.
Read more about the article A new method for non-invasive prenatal diagnosis of Down syndrome using MeDIP real time qPCR.
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A new method for non-invasive prenatal diagnosis of Down syndrome using MeDIP real time qPCR.

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Abstract During the last decade, the area of non-invasive prenatal diagnosis (NIPD) has rapidly evolved. Several methodological approaches have been presented and demonstrated a proof of concept for the NIPD…

Continue ReadingA new method for non-invasive prenatal diagnosis of Down syndrome using MeDIP real time qPCR.
Read more about the article The 5th International Conference on Alzheimer’s Disease and related disorders in the Middle East, 15-17 May 2009, Limassol Cyprus.
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The 5th International Conference on Alzheimer’s Disease and related disorders in the Middle East, 15-17 May 2009, Limassol Cyprus.

Abstract Alzheimer's disease is growing in prevalence worldwide. Though many Western countries have developed programs of surveillance and care around Alzheimer's disease and dementia, certain regions of the world are…

Continue ReadingThe 5th International Conference on Alzheimer’s Disease and related disorders in the Middle East, 15-17 May 2009, Limassol Cyprus.
Read more about the article A single nucleotide polymorphism in the acetyl-coenzyme A acyltransferase 2 (ACAA2) gene is associated with milk yield in Chios sheep.
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A single nucleotide polymorphism in the acetyl-coenzyme A acyltransferase 2 (ACAA2) gene is associated with milk yield in Chios sheep.

Abstract The objective of this work was to identify single nucleotide polymorphisms (SNP) in the ovine acetyl-coenzyme A acyltransferase 2 (ACAA2) gene and investigate their association with milk production traits.…

Continue ReadingA single nucleotide polymorphism in the acetyl-coenzyme A acyltransferase 2 (ACAA2) gene is associated with milk yield in Chios sheep.
Read more about the article Reconstruction of paternal genotypes over multiple breeding seasons reveals male green turtles do not breed annually.
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Reconstruction of paternal genotypes over multiple breeding seasons reveals male green turtles do not breed annually.

Abstract For species of conservation concern, knowledge of key life-history and demographic components, such as the number and sex ratio of breeding adults, is essential for accurate assessments of population…

Continue ReadingReconstruction of paternal genotypes over multiple breeding seasons reveals male green turtles do not breed annually.
Read more about the article Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy.
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Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy.

Abstract Arrhythmogenic cardiomyopathy (AC) is characterised by myocardial fibrofatty tissue infiltration and presents with palpitations, ventricular arrhythmias, syncope and sudden cardiac death. AC is associated with mutations in genes encoding…

Continue ReadingGeographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy.