Read more about the article Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms.
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Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms.

Abstract beta-Thalassemia is one of the most common autosomal recessive single-gene disorders in Cyprus. Development of a noninvasive prenatal diagnostic (NIPD) assay for beta-thalassemia is based mostly on the detection…

Continue ReadingArrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms.
Read more about the article Differential orbicularis oculi involvement in neuromuscular junction dysfunction.
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Differential orbicularis oculi involvement in neuromuscular junction dysfunction.

Abstract Single-fiber electromyography is a sensitive electrophysiological method for the determination of neuromuscular dysfunction. Normative values for stimulated single-fiber electromyography have been reported for the orbicularis oculi (OOc) with no…

Continue ReadingDifferential orbicularis oculi involvement in neuromuscular junction dysfunction.
Read more about the article 2005 poliovirus eradication: poliovirus presence in Cyprus 2 years after.
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2005 poliovirus eradication: poliovirus presence in Cyprus 2 years after.

Abstract The last case of polio in Cyprus caused by a wild-type poliovirus occurred in 1995. Since then Cyprus belongs to the countries considered poliovirus-free by the WHO. The aim…

Continue Reading2005 poliovirus eradication: poliovirus presence in Cyprus 2 years after.
Read more about the article Mutant polycystin-2 induces proliferation in primary rat tubular epithelial cells in a STAT-1/p21-independent fashion accompanied instead by alterations in expression of p57KIP2 and Cdk2.
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Mutant polycystin-2 induces proliferation in primary rat tubular epithelial cells in a STAT-1/p21-independent fashion accompanied instead by alterations in expression of p57KIP2 and Cdk2.

Abstract Autosomal Dominant Polycystic Kidney Disease (ADPKD) is characterized by the formation of multiple fluid-filled cysts that destroy the kidney architecture resulting in end-stage renal failure. Mutations in genes PKD1…

Continue ReadingMutant polycystin-2 induces proliferation in primary rat tubular epithelial cells in a STAT-1/p21-independent fashion accompanied instead by alterations in expression of p57KIP2 and Cdk2.
Read more about the article Ten-year mortality from Creutzfeldt-Jakob disease in Cyprus.
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Ten-year mortality from Creutzfeldt-Jakob disease in Cyprus.

Abstract We report the mortality from sporadic Creutzfeldt-Jakob disease in Cyprus for a 10-year surveillance period (1995-2004). In that time, 5 cases were identified out of a population of 749,000,…

Continue ReadingTen-year mortality from Creutzfeldt-Jakob disease in Cyprus.
Read more about the article Prevalent genotypes of Toxoplasma gondii in pregnant women and patients from Crete and Cyprus.
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Prevalent genotypes of Toxoplasma gondii in pregnant women and patients from Crete and Cyprus.

Abstract Molecular genotyping has been used to characterize Toxoplasma gondii strains into the three clonal lineages known as types I, II, and III. To characterize T. gondii strains from Greece…

Continue ReadingPrevalent genotypes of Toxoplasma gondii in pregnant women and patients from Crete and Cyprus.
Read more about the article COL4A3/COL4A4 mutations link familial hematuria and focal segmental glomerulosclerosis. glomerular epithelium destruction via basement membrane thinning?
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COL4A3/COL4A4 mutations link familial hematuria and focal segmental glomerulosclerosis. glomerular epithelium destruction via basement membrane thinning?

Abstract The recent description of multiple gene defects in hereditary podocytopathies and in hereditary glomerular basement membrane diseases has dramatically improved the current state of our knowledge on the renal…

Continue ReadingCOL4A3/COL4A4 mutations link familial hematuria and focal segmental glomerulosclerosis. glomerular epithelium destruction via basement membrane thinning?
Read more about the article The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype.
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The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype.

Abstract Fras1 and the structurally related proteins Frem1, Frem2, and Frem3, comprise a novel family of extracellular matrix proteins, which localize in a similar fashion underneath the lamina densa of…

Continue ReadingThe Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype.
Read more about the article Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype.
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Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype.

Abstract Carriers of apparently balanced translocations are usually phenotypically normal; however in about 6% of de novo cases, an abnormal phenotype is present. In the current study we investigated 12…

Continue ReadingCryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype.
Read more about the article Isoenzymatic characterization of Phlebotomus papatasi (Diptera: Psychodidae) of the Marrakech area, Morocco.
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Isoenzymatic characterization of Phlebotomus papatasi (Diptera: Psychodidae) of the Marrakech area, Morocco.

Abstract This study reports the genetic characterization of urban and rural populations of Phlebotomus (Phlebotomus) papatasi Scopoli (Diptera: Psychodidae) in Marrakech, Morocco. Using isoenzymatic analysis, four Moroccan populations were compared…

Continue ReadingIsoenzymatic characterization of Phlebotomus papatasi (Diptera: Psychodidae) of the Marrakech area, Morocco.