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…

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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.
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.
Read more about the article Ultrastructural diagnosis of mitochondrial encephalomyopathies revisited.
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Ultrastructural diagnosis of mitochondrial encephalomyopathies revisited.

Abstract Mitochondrial encephalomyopathies (MEs) are a heterogeneous group of multisystem disorders with extreme variability in clinical phenotype. Due to their complex nature, accurate diagnosis requires a coordinated approach, based on…

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Read more about the article Thin glomerular basement membranes in patients with hematuria and minimal change disease.
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Thin glomerular basement membranes in patients with hematuria and minimal change disease.

Abstract A detailed morphometric analysis of glomerular basement membrane (GBM) thickness was carried out on biopsies from 16 patients exhibiting normal histology and unremarkable immunofluorescence. Eleven of these patients presented…

Continue ReadingThin glomerular basement membranes in patients with hematuria and minimal change disease.