Read more about the article Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus.
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Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus.

Abstract In Cyprus, no data are yet available on the frequencies of clinically diagnosed FH patients. Further, until now, familial hypercholesterolaemia in Cyprus had not been studied at the molecular…

Continue ReadingGeographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus.
Read more about the article Molecular characterization of beta-thalassemia in Syria.
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Molecular characterization of beta-thalassemia in Syria.

Abstract This study concerns the determination of beta-thalassemia alleles and other hemoglobin variants in 82 patients from Syria. We have characterized 146 chromosomes and found 17 different beta-thalassemia mutations, and…

Continue ReadingMolecular characterization of beta-thalassemia in Syria.
Read more about the article Case for the panel. An unusual, common (?) finding in skeletal muscle biopsies.
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Case for the panel. An unusual, common (?) finding in skeletal muscle biopsies.

Abstract

Continue ReadingCase for the panel. An unusual, common (?) finding in skeletal muscle biopsies.
Read more about the article Oxcarbazepine versus carbamazepine treatment and induction of serum lipid abnormalities.
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Oxcarbazepine versus carbamazepine treatment and induction of serum lipid abnormalities.

Abstract Long-term treatment with carbamazepine is associated with many metabolic changes, including elevations in serum cholesterol, high-density lipoprotein, low-density lipoprotein, and triglyceride levels. Oxcarbazepine has been reported to be a…

Continue ReadingOxcarbazepine versus carbamazepine treatment and induction of serum lipid abnormalities.
Read more about the article Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.
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Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.

Abstract Polycystic kidney disease (ADPKD) is a condition with an autosomal dominant mode of inheritance and adult onset. Two forms of the disease, ADPKD1 and ADPKD2, caused by mutations in…

Continue ReadingGenetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.
Read more about the article Utilization of properties of natural catalytic RNA to design and synthesize functional ribozymes.
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Utilization of properties of natural catalytic RNA to design and synthesize functional ribozymes.

Abstract

Continue ReadingUtilization of properties of natural catalytic RNA to design and synthesize functional ribozymes.
Read more about the article Distal hereditary motor neuronopathy of the Jerash type.
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Distal hereditary motor neuronopathy of the Jerash type.

Abstract A novel form of autosomal recessive distal hereditary motor neuronopathy (distal HMN) is reported. The presence of pyramidal signs within the early stages of the disease with persistence of…

Continue ReadingDistal hereditary motor neuronopathy of the Jerash type.
Read more about the article Gene polymorphism at position -308 of the tumor necrosis factor alpha promotor is not associated with disease progression in multiple sclerosis patients.
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Gene polymorphism at position -308 of the tumor necrosis factor alpha promotor is not associated with disease progression in multiple sclerosis patients.

Abstract Tumor necrosis factor-alpha (TNFalpha) is a pluripotent proinflammatory cytokine and is thought to play an important role in the inflammatory process of multiple sclerosis (MS). A G-->A transition in…

Continue ReadingGene polymorphism at position -308 of the tumor necrosis factor alpha promotor is not associated with disease progression in multiple sclerosis patients.
Read more about the article Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.
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Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.

Abstract To identify and to characterize functionally the mutational basis of congenital myasthenic syndromes (CMS) linked to chromosome 17p.A total of 37 patients belonging to 13 CMS families, 9 of…

Continue ReadingChromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.
Read more about the article Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus.
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Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus.

Abstract The objectives of this study were to evaluate a novel semiquantitative application of the bioluminescence test for screening newborns for Duchenne muscular dystrophy (DMD) and to use this technique…

Continue ReadingNeonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus.