Read more about the article High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss.
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High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss.

Abstract Mutations in the GJB2 (Connexin 26) gene are responsible for more than half of all cases of prelingual, recessive, inherited, nonsyndromic deafness in Europe. This paper presents a mutation…

Continue ReadingHigh frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss.
Read more about the article Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus.
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Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus.

Abstract 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 mutational analysis of…

Continue ReadingContribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus.

Pathways and genes differentially expressed in the motor cortex of patients with sporadic amyotrophic lateral sclerosis.

Abstract Amyotrophic lateral sclerosis (ALS) is a fatal disorder caused by the progressive degeneration of motoneurons in brain and spinal cord. Despite identification of disease-linked mutations, the diversity of processes…

Continue ReadingPathways and genes differentially expressed in the motor cortex of patients with sporadic amyotrophic lateral sclerosis.
Read more about the article Levetiracetam in three cases of progressive myoclonus epilepsy.
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Levetiracetam in three cases of progressive myoclonus epilepsy.

Abstract We present three unrelated cases of genetically confirmed progressive myoclonic epilepsy of the Unverricht-Lundborg type who were treated with Levetiracetam as adjunctive therapy for their myoclonus. All cases responded…

Continue ReadingLevetiracetam in three cases of progressive myoclonus epilepsy.
Read more about the article A new amino-acid substitution in acetylcholinesterase 1 confers insecticide resistance to Culex pipiens mosquitoes from Cyprus.
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A new amino-acid substitution in acetylcholinesterase 1 confers insecticide resistance to Culex pipiens mosquitoes from Cyprus.

Abstract In insects, selection of insecticide-insensitive acetylcholinesterase (AChE) is a very common resistance mechanism. Mosquitoes possess both AChE1 and AChE2 enzymes and insensitivity is conferred by single amino-acid changes located…

Continue ReadingA new amino-acid substitution in acetylcholinesterase 1 confers insecticide resistance to Culex pipiens mosquitoes from Cyprus.
Read more about the article Synthesis, characterization, and evaluation as transfection reagents of ampholytic star copolymers: effect of star architecture.
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Synthesis, characterization, and evaluation as transfection reagents of ampholytic star copolymers: effect of star architecture.

Abstract Five star polymers based on the positively ionizable hydrophilic 2-(dimethylamino)ethyl methacrylate (DMAEMA) and the hydrophobic but hydrolyzable tetrahydropyranyl methacrylate (THPMA) were prepared by group-transfer polymerization (GTP) using ethylene glycol…

Continue ReadingSynthesis, characterization, and evaluation as transfection reagents of ampholytic star copolymers: effect of star architecture.
Read more about the article Ancient DNA forces reconsideration of evolutionary history of Mediterranean pygmy elephantids.
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Ancient DNA forces reconsideration of evolutionary history of Mediterranean pygmy elephantids.

Abstract During the Pleistocene pygmy elephantids, some only a quarter of their ancestors' size, were present on Mediterranean islands until about 10,000 years ago (y.a.). Using a new methodology for…

Continue ReadingAncient DNA forces reconsideration of evolutionary history of Mediterranean pygmy elephantids.
Read more about the article Epileptic seizures followed by nonepileptic manifestations: a video-EEG diagnosis.
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Epileptic seizures followed by nonepileptic manifestations: a video-EEG diagnosis.

Abstract To present and discuss a case of a woman who for many years was presumed to have nonepileptic seizures (NES), but proved to actually have both electrical and non-electrical…

Continue ReadingEpileptic seizures followed by nonepileptic manifestations: a video-EEG diagnosis.
Read more about the article Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization.
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Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization.

Abstract Array-based genome-wide screening methods were recently introduced to clinical practice in order to detect small genomic imbalances that may cause severe genetic disorders. The continuous advancement of such methods…

Continue ReadingDetection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization.
Read more about the article Noninvasive prenatal diagnostic assay for the detection of beta-thalassemia.
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Noninvasive prenatal diagnostic assay for the detection of beta-thalassemia.

Abstract The development of a noninvasive method for detection of beta-thalassemia in the population of Cyprus is based on the detection of paternally inherited single nucleotide polymorphisms (SNPs) as well…

Continue ReadingNoninvasive prenatal diagnostic assay for the detection of beta-thalassemia.