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 Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.
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Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.

Abstract Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in one of three genes: PKD1 on chromosome 16 accounts for approximately 85% of cases whereas PKD2 on chromosome…

Continue ReadingGerminal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.
Read more about the article Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.
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Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.

Abstract Loss of heterozygosity (LOH) is a molecular phenomenon that denotes the loss of one of the two alleles at a specific locus. It is frequently associated with tumour suppressor…

Continue ReadingLoss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.
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…

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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.