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 Analysis of delta-globin gene mutations in Greek cypriots.
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Analysis of delta-globin gene mutations in Greek cypriots.

Abstract We recently described four delta-globin gene mutations in Greek Cypriots studied by polymerase chain reaction (PCR) amplification and automated fluorescence-based DNA sequence analysis (Blood 78:3298, 1991). Selective restriction enzyme…

Continue ReadingAnalysis of delta-globin gene mutations in Greek cypriots.
Read more about the article Prenatal diagnosis for beta-thalassemia by PCR from single chorionic villus.
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Prenatal diagnosis for beta-thalassemia by PCR from single chorionic villus.

Abstract

Continue ReadingPrenatal diagnosis for beta-thalassemia by PCR from single chorionic villus.
Read more about the article New hereditary malformation syndrome of unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects.
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New hereditary malformation syndrome of unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects.

Abstract We report on a new syndrome characterized by specific and striking facial abnormalities, arthrogrypotic skeletal deformities, and neuromuscular and sensory defects in a large Greek Cypriot family. The hereditary…

Continue ReadingNew hereditary malformation syndrome of unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects.
Read more about the article Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis.
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Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis.

Abstract We developed a method for the detection of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) carriers. The method is based on the quantitative analysis of the products…

Continue ReadingDetection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis.
Read more about the article The beta-thalassaemia mutations in the population of Cyprus.
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The beta-thalassaemia mutations in the population of Cyprus.

Abstract We have identified the beta-thalassaemia alleles in nearly all known Turkish Cypriot beta-thalassaemia homozygotes and in over 700 Greek Cypriot beta-thalassaemia heterozygotes living on the island of Cyprus. The…

Continue ReadingThe beta-thalassaemia mutations in the population of Cyprus.
Read more about the article Beta-thalassaemia mutations and the underlying beta gene cluster haplotypes in the Greek population.
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Beta-thalassaemia mutations and the underlying beta gene cluster haplotypes in the Greek population.

Abstract The polymorphic sites across the beta gene cluster (restriction haplotypes) in association with specific thalassaemic mutations were analyzed in representative samples of normal and thalassaemic Greeks in comparison to…

Continue ReadingBeta-thalassaemia mutations and the underlying beta gene cluster haplotypes in the Greek population.
Read more about the article Identification of two distinct amplifications of the esterase B locus in Culex pipiens (L.) mosquitoes from Mediterranean countries.
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Identification of two distinct amplifications of the esterase B locus in Culex pipiens (L.) mosquitoes from Mediterranean countries.

Abstract Two new highly active esterases were detected by starch electrophoretic studies in Culex pipiens mosquitoes from the area of Montpellier (France) and from Cyprus. We demonstrate here that both…

Continue ReadingIdentification of two distinct amplifications of the esterase B locus in Culex pipiens (L.) mosquitoes from Mediterranean countries.
Read more about the article delta F508 cystic fibrosis mutation appears very infrequently in the Greek-Cypriot community of Cyprus.
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delta F508 cystic fibrosis mutation appears very infrequently in the Greek-Cypriot community of Cyprus.

Abstract

Continue Readingdelta F508 cystic fibrosis mutation appears very infrequently in the Greek-Cypriot community of Cyprus.
Read more about the article Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.
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Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.

Abstract The molecular basis of most beta-thalassemia syndromes has been defined, while the spectrum of mutations causing delta-thalassemia is not well characterized. In an attempt to identify such mutations, the…

Continue ReadingIdentification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.