Read more about the article Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy.
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Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy.

Abstract Although there is good experimental data that utrophin, the autosomal analog of dystrophin, can ameliorate the phenotype in dystrophinopathies, there is scant evidence from human data to support this…

Continue ReadingNaturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy.
Read more about the article Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
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Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.

Abstract To determine the phenotypic and cellular expression of two novel connexin32 (Cx32) mutations causing X-linked Charcot-Marie-Tooth disease (CMT1X). The authors evaluated several members of two families with CMT1X clinically,…

Continue ReadingPhenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
Read more about the article Sandfly fever virus outbreak in Cyprus.
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Sandfly fever virus outbreak in Cyprus.

Abstract A major outbreak of febrile syndrome occurred during 2002 among the Greek Army forces in Cyprus. Serological and molecular investigations revealed that the causative agent was a Sicilian-like phlebovirus.…

Continue ReadingSandfly fever virus outbreak in Cyprus.
Read more about the article Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.
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Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.

Abstract The spectrum of distal renal tubular acidosis (dRTA) includes a genetically heterogeneous group of inherited conditions of both autosomal-dominant and recessive mode of inheritance. The basic defect is linked…

Continue ReadingMolecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.
Read more about the article Tuberous sclerosis successfully treated with levetiracetam monotherapy: 18 months of follow-up.
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Tuberous sclerosis successfully treated with levetiracetam monotherapy: 18 months of follow-up.

Abstract We present the case of a boy with tuberous sclerosis who was referred for evaluation and treatment of his intractable epileptic seizures, having failed multiple anti-epileptic drug trials. He…

Continue ReadingTuberous sclerosis successfully treated with levetiracetam monotherapy: 18 months of follow-up.
Read more about the article Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom.
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Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom.

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Abstract

Continue ReadingCystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom.
Read more about the article Genetic insight into Mediterranean chukar (Alectoris chukar, Galliformes) populations inferred from mitochondrial DNA and RAPD markers.
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Genetic insight into Mediterranean chukar (Alectoris chukar, Galliformes) populations inferred from mitochondrial DNA and RAPD markers.

Abstract The chukar (Alectoris chukar, Galliformes) is one of the most important game birds as it is widely distributed and hunted over the whole of its range. The aim of…

Continue ReadingGenetic insight into Mediterranean chukar (Alectoris chukar, Galliformes) populations inferred from mitochondrial DNA and RAPD markers.
Read more about the article Multiscale morphological analysis of the atherosclerotic carotid plaque.
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Multiscale morphological analysis of the atherosclerotic carotid plaque.

Abstract The aim of this paper was to investigate the usefulness of multiscale morphological analysis in the assessment of atherosclerotic carotid plagues. Ultrasound images were recorded from 137 asymptomatic and…

Continue ReadingMultiscale morphological analysis of the atherosclerotic carotid plaque.
Read more about the article Genetic structure of Dagestan populations: a study of 11 Alu insertion polymorphisms.
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Genetic structure of Dagestan populations: a study of 11 Alu insertion polymorphisms.

Abstract We examined genetic variation in nine populations of Dagestan using 11 autosomal Alu insertion polymorphisms to investigate the genetic structure of indigenous groups and to assess their genetic relationship…

Continue ReadingGenetic structure of Dagestan populations: a study of 11 Alu insertion polymorphisms.