Read more about the article A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.
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A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.

Abstract To determine the genetic basis of autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) in a Cypriot family, we ascertained and studied a large, four-generation kindred in which all participating family…

Continue ReadingA novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.
Read more about the article A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.
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A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.

Abstract Distal hereditary motor neuronopathies (dHMNs) form a heterogeneous group of rare disorders characterized by distal weakness and wasting in the limbs with no significant sensory involvement. Harding has classified…

Continue ReadingA novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.
Read more about the article Ribozyme and peptide-nucleic acid-based gene therapy.
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Ribozyme and peptide-nucleic acid-based gene therapy.

Abstract The recent discovery that RNA can act as a catalyst, apart from carrying genetic information, has given a new dimension to the field of gene therapy and has come…

Continue ReadingRibozyme and peptide-nucleic acid-based gene therapy.
Read more about the article Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.
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Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.

Abstract Mutations in three different genes, PKD1, PKD2 and PKD3, can cause a very similar clinical picture of the autosomal dominant form of polycystic kidney disease (ADPKD). Apparently, mutations in…

Continue ReadingAutosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.
Read more about the article Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.
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Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.

Abstract In the last 15 years, four patients with the infantile form of Sandhoff disease were diagnosed in four different families in Cyprus (population 703,000, birth rate 1.7%). Three of…

Continue ReadingSandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.
Read more about the article Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.
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Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.

Abstract

Continue ReadingSegregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.
Read more about the article Hb Bart’s levels in cord blood and alpha-thalassemia mutations in Cyprus.
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Hb Bart’s levels in cord blood and alpha-thalassemia mutations in Cyprus.

Abstract The purpose of this study was to examine the frequency of alpha-thalassemia in the population of Cyprus using cord blood samples. The levels of Hb Bart's were compared with…

Continue ReadingHb Bart’s levels in cord blood and alpha-thalassemia mutations in Cyprus.
Read more about the article Presence of diverse human immunodeficiency virus type 1 viral variants in Cameroon.
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Presence of diverse human immunodeficiency virus type 1 viral variants in Cameroon.

Abstract Phylogenetic analysis of the gp41 region of 123 HIV-1-seropositive specimens from Cameroon showed that 89 were subtype A (71% of these sequences were IbNg-like), 12 (10%) were subtype D,…

Continue ReadingPresence of diverse human immunodeficiency virus type 1 viral variants in Cameroon.
Read more about the article The prevalence of factor V R506Q mutation-Leiden among apparently healthy Lebanese.
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The prevalence of factor V R506Q mutation-Leiden among apparently healthy Lebanese.

Abstract Resistance to activated protein C (APC) degradation caused by a specific point mutation in the factor V (FV) gene, FV:R506Q or FV-Leiden, which replaces Arg506 with Gln at the…

Continue ReadingThe prevalence of factor V R506Q mutation-Leiden among apparently healthy Lebanese.
Read more about the article Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.
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Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.

Abstract Mutations in the PKD1 gene account for approximately 85% of cases with autosomal dominant polycystic kidney disease (ADPKD1; MIM# 601313), which is considered one of the most frequent monogenic…

Continue ReadingScreening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.