Read more about the article The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
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The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.

Abstract GM1 gangliosidosis is a lysosomal storage disorder caused by deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration, and in its most severe infantile form, it leads to…

Continue ReadingThe Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
Read more about the article Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability.
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Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability.

Abstract A mosaic karyotype consisting of a 45,X cell line and a second cell line containing a normal or an abnormal Y chromosome is relatively common and is associated with…

Continue ReadingIdentification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability.
Read more about the article Ulnar neuropathy at Guyon’s canal: electrophysiological and surgical findings.
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Ulnar neuropathy at Guyon’s canal: electrophysiological and surgical findings.

Abstract Published correlations between electrophysiological and surgical findings are relatively rare in cases of ulnar nerve compression at the wrist, compared to the more common compression of the ulnar nerve…

Continue ReadingUlnar neuropathy at Guyon’s canal: electrophysiological and surgical findings.
Read more about the article Future chelation monotherapy and combination therapy strategies in thalassemia and other conditions. comparison of deferiprone, deferoxamine, ICL670, GT56-252, L1NAll and starch deferoxamine polymers.
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Future chelation monotherapy and combination therapy strategies in thalassemia and other conditions. comparison of deferiprone, deferoxamine, ICL670, GT56-252, L1NAll and starch deferoxamine polymers.

Abstract Deferiprone (L1), and appropriate combinations with deferoxamine (DFO), can be used effectively for the treatment of thalassemia and other transfusional iron loading conditions. A number of experimental iron chelators…

Continue ReadingFuture chelation monotherapy and combination therapy strategies in thalassemia and other conditions. comparison of deferiprone, deferoxamine, ICL670, GT56-252, L1NAll and starch deferoxamine polymers.
Read more about the article Green turtle (Chelonia mydas) foraging and nesting aggregations in the Caribbean and Atlantic: impact of currents and behavior on dispersal.
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Green turtle (Chelonia mydas) foraging and nesting aggregations in the Caribbean and Atlantic: impact of currents and behavior on dispersal.

Abstract Although significant amounts of research have been dedicated to increasing the knowledge of the life history of green turtles (Chelonia mydas), large gaps exist in our understanding of juvenile…

Continue ReadingGreen turtle (Chelonia mydas) foraging and nesting aggregations in the Caribbean and Atlantic: impact of currents and behavior on dispersal.
Read more about the article Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population.
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Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population.

Abstract Mutations in the GJB2 (connexin-26) gene are responsible for more than half of all cases of prelingual recessive inherited non-syndromic deafness in Europe. One specific mutation 35delG, accounts for…

Continue ReadingDetermination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population.
Read more about the article The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues.
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The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues.

Abstract The interface between assisted reproductive technologies (ART) and genetics comprises several sensitive and important issues that affect infertile couples, families with severe genetic diseases, potential children, professionals in ART…

Continue ReadingThe interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues.
Read more about the article Neuromyotonia and limbic encephalitis sera target mature Shaker-type K+ channels: subunit specificity correlates with clinical manifestations.
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Neuromyotonia and limbic encephalitis sera target mature Shaker-type K+ channels: subunit specificity correlates with clinical manifestations.

Abstract Autoantibodies to Shaker-type (Kv1) K+ channels are now known to be associated with three syndromes. Peripheral nerve hyperexcitability is the chief manifestation of acquired neuromyotonia; the combination of neuromyotonia…

Continue ReadingNeuromyotonia and limbic encephalitis sera target mature Shaker-type K+ channels: subunit specificity correlates with clinical manifestations.
Read more about the article Sandfly fever virus outbreak in Cyprus.
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Sandfly fever virus outbreak in Cyprus.

Abstract A major outbreak of febrile syndrome occurred during 2002 among the Greek Army forces in Cyprus. Serological and molecular investigations revealed that the causative agent was a Sicilian-like phlebovirus.…

Continue ReadingSandfly fever virus outbreak in Cyprus.