Read more about the article Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1.
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Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1.

Abstract We describe a large Cypriot family with an interstitial type of nephropathy, inherited as an autosomal dominant trait that led to end stage renal failure between 51 to 78…

Continue ReadingMedullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1.
Read more about the article Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease.
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Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease.

Abstract There is a group of inherited cystic nephropathies that are characterized by juvenile onset recessive inheritance (familial juvenile nephronophthisis, FJN) or by adult onset dominant inheritance (medullary cystic disease,…

Continue ReadingChromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease.
Read more about the article Rare beta-thalassemia alleles in the Greek and Greek Cypriot populations.
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Rare beta-thalassemia alleles in the Greek and Greek Cypriot populations.

Abstract

Continue ReadingRare beta-thalassemia alleles in the Greek and Greek Cypriot populations.
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 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 Case for the panel. An unusual, common (?) finding in skeletal muscle biopsies.
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Case for the panel. An unusual, common (?) finding in skeletal muscle biopsies.

Abstract

Continue ReadingCase for the panel. An unusual, common (?) finding in skeletal muscle biopsies.
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.