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 Hyperbaric oxygen for a thalassaemic leg ulcer.
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Hyperbaric oxygen for a thalassaemic leg ulcer.

Abstract A thalassaemic ulcer in a male Greek Cypriot patient, resistant to standard medical treatment, was treated using hyperbaric oxygen in a recompression chamber. The patient breathed 100% oxygen by…

Continue ReadingHyperbaric oxygen for a thalassaemic leg ulcer.
Read more about the article Novel trinucleotide deletion in Fabry’s disease.
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Novel trinucleotide deletion in Fabry’s disease.

Abstract We describe the molecular characterization of a novel, in-frame deletion that is located in exon 7 of the alpha-galactosidase A gene in a patient with Fabry's disease. The 3-bp…

Continue ReadingNovel trinucleotide deletion in Fabry’s disease.
Read more about the article Safety and feasibility of liver-directed ex vivo gene therapy for homozygous familial hypercholesterolemia.
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Safety and feasibility of liver-directed ex vivo gene therapy for homozygous familial hypercholesterolemia.

Abstract The purpose of this report was to provide detailed information on the safety and feasibility of surgical procedures associated with the first ex vivo liver-directed gene therapy trial for…

Continue ReadingSafety and feasibility of liver-directed ex vivo gene therapy for homozygous familial hypercholesterolemia.
Read more about the article Moderate reduction of beta-globin gene transcript by a novel mutation in the 5′ untranslated region: a study of its interaction with other genotypes in two families.
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Moderate reduction of beta-globin gene transcript by a novel mutation in the 5′ untranslated region: a study of its interaction with other genotypes in two families.

Abstract We have identified two individuals of Greek Cypriot origin with thalassemia intermedia. Molecular analysis has shown that each individual is a compound heterozygote for a previously described beta zero…

Continue ReadingModerate reduction of beta-globin gene transcript by a novel mutation in the 5′ untranslated region: a study of its interaction with other genotypes in two families.
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 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 Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease.
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Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease.

Abstract Mutations in the PKD1 gene on the short arm of chromosome 16 account for 85%-90% of polycystic kidney disease patients in the Caucasian population. After the recent characterization of…

Continue ReadingDetection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease.