Read more about the article Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK.
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Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK.

Abstract The application of the amplification refractory mutation system (ARMS) to the detection of individual beta-thalassaemia mutations in heterozygous parents and "at risk" fetuses has been assessed in Indian and…

Continue ReadingRapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK.
Read more about the article Problems in the control of genetic disorders.
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Problems in the control of genetic disorders.

Abstract Preventive genetics services based on population screening are now an integral part of maternal and child health programmes. New developments in DNA technology, ultrasound scanning, and assay of factors…

Continue ReadingProblems in the control of genetic disorders.
Read more about the article Beta thalassaemia mutations in Turkish Cypriots.
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Beta thalassaemia mutations in Turkish Cypriots.

Abstract Using oligonucleotide hybridisation or restriction endonuclease analysis, we have characterised the molecular defect in 94 patients with thalassaemia major and four with thalassaemia intermedia of Turkish Cypriot descent. We…

Continue ReadingBeta thalassaemia mutations in Turkish Cypriots.
Read more about the article Mild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes.
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Mild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes.

Abstract Through the procedure of gene amplification combined with hybridization to synthetic 19 base pair (bp) oligonucleotide probes, it has been possible to identify nine different mutations in the DNA…

Continue ReadingMild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes.
Read more about the article Molecular genetic detection of Xp21 muscular dystrophy carriers in Cyprus.
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Molecular genetic detection of Xp21 muscular dystrophy carriers in Cyprus.

Abstract Multiplex Polymerase Chain Reaction (PCR) for 18 different exons of the dystrophin gene was used to characterize the mutations in 29 Cypriot families with Duchenne or Becker Muscular Dystrophy.…

Continue ReadingMolecular genetic detection of Xp21 muscular dystrophy carriers in Cyprus.
Read more about the article Cystic fibrosis patients from the Black Sea region: the 1677delTA mutation.
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Cystic fibrosis patients from the Black Sea region: the 1677delTA mutation.

Abstract A 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among CF chromosomes worldwide, was found to be a relatively common cause of…

Continue ReadingCystic fibrosis patients from the Black Sea region: the 1677delTA mutation.
Read more about the article Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families.
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Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families.

Abstract Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic…

Continue ReadingPresymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families.
Read more about the article Genetics-based machine learning for the assessment of certain neuromuscular disorders.
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Genetics-based machine learning for the assessment of certain neuromuscular disorders.

Abstract Clinical electromyography (EMG) provides useful information for the diagnosis of neuromuscular disorders. The utility of artificial neural networks (ANN's) in classifying EMG data trained with backpropagation or Rohonen's self-organizing…

Continue ReadingGenetics-based machine learning for the assessment of certain neuromuscular disorders.
Read more about the article The distribution of the ABO and Rhesus blood groups (phenotype and allele frequencies) in the populations of Cyprus.
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The distribution of the ABO and Rhesus blood groups (phenotype and allele frequencies) in the populations of Cyprus.

Abstract The distribution of ABO and Rhesus blood groups in the populations of Cyprus have been studied in 47,759 individuals (about 8% of the Greek-Cypriot population). The data were classified…

Continue ReadingThe distribution of the ABO and Rhesus blood groups (phenotype and allele frequencies) in the populations of Cyprus.