Read more about the article Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus.
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Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus.

Abstract The expansion of the trinucleotide repeat (CGG)n in successive generations through maternal meiosis is the cause of fragile X syndrome. Analysis of CA repeat polymorphisms flanking the FMR-1 gene…

Continue ReadingEvidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus.
Read more about the article A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia.
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A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia.

Abstract Two novel mutations Q363X and D365E were identified in the low-density lipoprotein receptor gene in a Cypriot patient with heterozygous familial hypercholesterolemia. Restriction enzyme analysis of the index case…

Continue ReadingA double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia.
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 Global epidemiology of hemoglobin disorders.
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Global epidemiology of hemoglobin disorders.

Abstract Thalassemias and the hemoglobinopathies such as Hemoglobins S, C and E, are now a global problem. They have spread through migration from their native areas in the Mediterranean, Africa…

Continue ReadingGlobal epidemiology of hemoglobin disorders.
Read more about the article Congenital myasthenic syndrome. (CMS) type Ia. Clinical and genetic diversity.
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Congenital myasthenic syndrome. (CMS) type Ia. Clinical and genetic diversity.

Abstract

Continue ReadingCongenital myasthenic syndrome. (CMS) type Ia. Clinical and genetic diversity.
Read more about the article Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients.
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Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients.

Abstract The presence of Y chromosome sequences in Turner syndrome (TS) patients may predispose them to gonadoblastoma formation with an estimated risk of 15-25%. The aim of this study was…

Continue ReadingDetection and incidence of cryptic Y chromosome sequences in Turner syndrome patients.