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…

Continue ReadingUltrastructural diagnosis of mitochondrial encephalomyopathies revisited.
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.
Read more about the article Typing of sandflies from Greece and Cyprus by DNA polymorphism of 18S rRNA gene.
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Typing of sandflies from Greece and Cyprus by DNA polymorphism of 18S rRNA gene.

Abstract A simple and reliable technique was developed to distinguish Phlebotomine sandflies by restriction fragment length polymorphism of PCR-amplified (PCR-RFLP) 18S rDNAs. Seven morphologically identified sandflies species from several localities…

Continue ReadingTyping of sandflies from Greece and Cyprus by DNA polymorphism of 18S rRNA gene.
Read more about the article Molecular analysis of the full-length genome of HIV type 1 subtype I: evidence of A/G/I recombination.
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Molecular analysis of the full-length genome of HIV type 1 subtype I: evidence of A/G/I recombination.

Abstract Phylogenetic analysis of partial env sequences of HIV-1 isolates from Cyprus and Greece suggested the existence of a distinct subtype of the virus, designated as I. We examined whether…

Continue ReadingMolecular analysis of the full-length genome of HIV type 1 subtype I: evidence of A/G/I recombination.
Read more about the article Genetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population.
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Genetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population.

Abstract In order to identify genetic factors governing expansion of the CGG repeat in the FMR1 gene and to determine what predisposes or causes a normal stable allele to change…

Continue ReadingGenetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population.
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 A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.

Abstract To determine the genetic basis of autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) in a Cypriot family, we ascertained and studied a large, four-generation kindred in which all participating family…

Continue ReadingA novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.