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 Underexpression of the apolipoprotein E2 and E4 alleles in the Greek Cypriot population of Cyprus.
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Underexpression of the apolipoprotein E2 and E4 alleles in the Greek Cypriot population of Cyprus.

Abstract Apolipoprotein E (APOE) plays an important role in the multifactorial etiology of both cardiovascular disease and Alzheimer's disease. Polymerase chain reaction (PCR) was used to investigate the APOE gene…

Continue ReadingUnderexpression of the apolipoprotein E2 and E4 alleles in the Greek Cypriot population of Cyprus.
Read more about the article Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus.
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Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus.

Abstract Sandhoff disease occurs in the Christian Maronite community in Cyprus, a community that established over a thousand years ago. Nowadays, this community comprises less than 1% of the whole…

Continue ReadingMutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus.
Read more about the article Dystrophinopathy presenting as congenital muscular dystrophy.
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Dystrophinopathy presenting as congenital muscular dystrophy.

Abstract We report a 3 1/2-year-old boy with congenital hypotonia, calf pseudohypertrophy, markedly delayed motor milestones and joint contractures. He was initially diagnosed to have congenital muscular dystrophy on the…

Continue ReadingDystrophinopathy presenting as congenital muscular dystrophy.
Read more about the article Thalassemia intermedia in two patients with Hb Lepore-beta zero-thalassemia (Frameshift codon 8, -AA).
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Thalassemia intermedia in two patients with Hb Lepore-beta zero-thalassemia (Frameshift codon 8, -AA).

Abstract

Continue ReadingThalassemia intermedia in two patients with Hb Lepore-beta zero-thalassemia (Frameshift codon 8, -AA).
Read more about the article 23rd ENMC Workshop on Rare Neuromuscular Diseases. 4-6 June, Baarn, The Netherlands.
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23rd ENMC Workshop on Rare Neuromuscular Diseases. 4-6 June, Baarn, The Netherlands.

Abstract

Continue Reading23rd ENMC Workshop on Rare Neuromuscular Diseases. 4-6 June, Baarn, The Netherlands.
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.