Read more about the article Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.
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Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.

Abstract An autosomal dominant distal form of spinal muscular atrophy mainly affecting the upper limbs with a mean age of onset of 17 years has been identified in a large…

Continue ReadingMapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.
Read more about the article Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families.
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Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families.

Abstract Polycystic kidney disease is an inherited heterogeneous disorder that affects approximately 1:1000 Europeans. It is characterized mainly by the formation of cysts in the kidney that lead to end-stage…

Continue ReadingGenetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families.
Read more about the article alpha-Thalassaemia in the population of Cyprus.
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alpha-Thalassaemia in the population of Cyprus.

Abstract We have determined the alpha-thalassaemia (alpha-thal) determinants in 78 patients with Hb H disease from Cyprus; 25 were Turkish Cypriots and 53 were Greek Cypriots. Four deletional and three…

Continue Readingalpha-Thalassaemia in the population of Cyprus.
Read more about the article Weak evidence for allelic association in the cypriot PKD1 population.
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Weak evidence for allelic association in the cypriot PKD1 population.

Abstract

Continue ReadingWeak evidence for allelic association in the cypriot PKD1 population.
Read more about the article Novel cystic fibrosis mutation associated with mild disease in Cypriot patients.
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Novel cystic fibrosis mutation associated with mild disease in Cypriot patients.

Abstract Cyprus is an island in the eastern Mediterranean basin inhabited by people of Caucasian extraction, mostly Greek-Cypriots. The most common inherited disease among Caucasians is cystic fibrosis (CF). Although…

Continue ReadingNovel cystic fibrosis mutation associated with mild disease in Cypriot patients.
Read more about the article Evaluation of the genotoxicity potential (by Mutatox test) of ten pesticides found as water pollutants in Cyprus.
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Evaluation of the genotoxicity potential (by Mutatox test) of ten pesticides found as water pollutants in Cyprus.

Abstract Ten pesticides: aldicarb, aldicard sulfone, aldicarb oxide, carbofuran, propoxur, methomyl, diuron, linuron, alachlor and parathion-methyl, found as water pollutants in Cyprus, were evaluated for their genotoxicity potential with the…

Continue ReadingEvaluation of the genotoxicity potential (by Mutatox test) of ten pesticides found as water pollutants in Cyprus.
Read more about the article Beta thalassaemia.
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Beta thalassaemia.

Abstract

Continue ReadingBeta thalassaemia.
Read more about the article Expression studies of delta-globin gene alleles associated with reduced hemoglobin A2 levels in Greek Cypriots.
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Expression studies of delta-globin gene alleles associated with reduced hemoglobin A2 levels in Greek Cypriots.

Abstract We previously identified five delta-globin gene alleles associated with reduced hemoglobin (Hb) A2 (Trifillis, P., Ioannou, P., Schwartz, E., and Surrey, S. (1991) Blood 78, 3298-3305). We have now…

Continue ReadingExpression studies of delta-globin gene alleles associated with reduced hemoglobin A2 levels in Greek Cypriots.
Read more about the article Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual.
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Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual.

Abstract During the past few years we have been testing the hypothesis that Cyprus may have been spared many severe cystic fibrosis (CF) cases but not cystic fibrosis transmembrane conductance…

Continue ReadingDescription of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual.
Read more about the article New coagulation factor V gene polymorphisms define a single and infrequent haplotype underlying the factor V Leiden mutation in Mediterranean populations and Indians.
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New coagulation factor V gene polymorphisms define a single and infrequent haplotype underlying the factor V Leiden mutation in Mediterranean populations and Indians.

Abstract Two novel polymorphisms were identified in the factor V gene by direct sequencing of intronic areas. One of them, located in intron 9, is the marker closest to the…

Continue ReadingNew coagulation factor V gene polymorphisms define a single and infrequent haplotype underlying the factor V Leiden mutation in Mediterranean populations and Indians.