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 Greek Cypriot allele and genotype frequencies for Amplitype PM-DQA1 and D1S80 loci.
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Greek Cypriot allele and genotype frequencies for Amplitype PM-DQA1 and D1S80 loci.

Abstract A sample from the Greek Cypriot population was typed at seven forensically important PCR-based loci: LDLR, GYPA, HBGG, D7S8, GC, HLA-DQA1, and D1S80. The results showed that all loci…

Continue ReadingGreek Cypriot allele and genotype frequencies for Amplitype PM-DQA1 and D1S80 loci.
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 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.