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 C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families.
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C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families.

Abstract Microscopic haematuria is the presenting symptom of several conditions, either heritable or acquired. A well-recognized familial condition is Alport syndrome, either of X-linked or autosomal recessive inheritance, as well…

Continue ReadingC3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families.
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 The complex history of the olive tree: from Late Quaternary diversification of Mediterranean lineages to primary domestication in the northern Levant.
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The complex history of the olive tree: from Late Quaternary diversification of Mediterranean lineages to primary domestication in the northern Levant.

Abstract The location and timing of domestication of the olive tree, a key crop in Early Mediterranean societies, remain hotly debated. Here, we unravel the history of wild olives (oleasters),…

Continue ReadingThe complex history of the olive tree: from Late Quaternary diversification of Mediterranean lineages to primary domestication in the northern Levant.
Read more about the article A minimal set of SNPs for the noninvasive prenatal diagnosis of β-thalassaemia.
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A minimal set of SNPs for the noninvasive prenatal diagnosis of β-thalassaemia.

Abstract β-thalassaemia is one of the commonest autosomal recessive single-gene disorders worldwide. Prenatal tests use invasive methods, posing a risk for the pregnancy itself. Development of a noninvasive prenatal diagnostic…

Continue ReadingA minimal set of SNPs for the noninvasive prenatal diagnosis of β-thalassaemia.
Read more about the article Incidence of end-stage renal disease in the Turkish-Cypriot population of Northern Cyprus: a population based study.
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Incidence of end-stage renal disease in the Turkish-Cypriot population of Northern Cyprus: a population based study.

Abstract This is the first report of the incidence and causes of end-stage renal disease (ESRD) of the Turkish-Cypriot population in Northern Cyprus. Data were collected over eight consecutive years…

Continue ReadingIncidence of end-stage renal disease in the Turkish-Cypriot population of Northern Cyprus: a population based study.
Read more about the article Turkish perspective of Jervell and Lange-Nielsen syndrome.
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Turkish perspective of Jervell and Lange-Nielsen syndrome.

Abstract

Continue ReadingTurkish perspective of Jervell and Lange-Nielsen syndrome.
Read more about the article EFNS review on the role of muscle biopsy in the investigation of myalgia.
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EFNS review on the role of muscle biopsy in the investigation of myalgia.

Abstract Myalgia, defined as any pain perceived in muscle, is very common in the general population and a frequent cause for referral to neurologists, rheumatologists and internists in general. It…

Continue ReadingEFNS review on the role of muscle biopsy in the investigation of myalgia.
Read more about the article Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP-qPCR methodology.
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Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP-qPCR methodology.

Abstract The goal of this study is to evaluate the amount of free fetal DNA (ffDNA), total DNA, and 'fetal fraction' found in maternal plasma and whether these influence the…

Continue ReadingVariability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP-qPCR methodology.
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.