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.
Read more about the article Exercise-induced ventricular arrhythmias and sudden cardiac death in a family.
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Exercise-induced ventricular arrhythmias and sudden cardiac death in a family.

Abstract Members of a family have been investigated because of three sudden deaths among them. Two young sisters, aged 12 and 16, died suddenly while swimming and running, while their…

Continue ReadingExercise-induced ventricular arrhythmias and sudden cardiac death in a family.
Read more about the article Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity.
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Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity.

Abstract Familial infantile myasthenia is an autosomal recessive disorder, recently classified as congenital myasthenic syndrome type Ia. Onset of symptoms is at birth to early childhood with significant myasthenic weakness…

Continue ReadingMapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity.