Read more about the article Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability.
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Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability.

Abstract This study presents the first large, population-based molecular investigation of the fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic populations of Greece and Cyprus. The aims…

Continue ReadingMolecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability.
Read more about the article Isolation and characterization of two novel organophosphate resistance mechanisms in Culex pipiens from Cyprus.
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Isolation and characterization of two novel organophosphate resistance mechanisms in Culex pipiens from Cyprus.

Abstract Two novel mechanisms of organophosphate resistance were isolated and characterized from a population of Culex pipiens L. from Cyprus. Two strains, one expressing the novel, highly active esterases A5…

Continue ReadingIsolation and characterization of two novel organophosphate resistance mechanisms in Culex pipiens from Cyprus.
Read more about the article An isolate of human immunodeficiency virus type 1 originally classified as subtype I represents a complex mosaic comprising three different group M subtypes (A, G, and I).
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An isolate of human immunodeficiency virus type 1 originally classified as subtype I represents a complex mosaic comprising three different group M subtypes (A, G, and I).

Abstract Full-length reference clones and sequences are currently available for eight human immunodeficiency virus type 1 (HIV-1) group M subtypes (A through H), but none have been reported for subtypes…

Continue ReadingAn isolate of human immunodeficiency virus type 1 originally classified as subtype I represents a complex mosaic comprising three different group M subtypes (A, G, and I).
Read more about the article Geneticization: the Cyprus paradigm.
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Geneticization: the Cyprus paradigm.

Abstract Geneticization is a broad term referring to several related processes such as a spreading tendency to use a genetic model of disease explanation, a growing influence of genetics in…

Continue ReadingGeneticization: the Cyprus paradigm.
Read more about the article Genetic screening and ethics: European perspectives.
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Genetic screening and ethics: European perspectives.

Abstract Analysis and comparison of genetic screening programs shows that the extent of development of programs varies widely across Europe. Regional variations are due not only to genetic disease patterns…

Continue ReadingGenetic screening and ethics: European perspectives.
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.