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 Kleine-Levin syndrome. Report of a case and review of the literature.
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The Kleine-Levin syndrome. Report of a case and review of the literature.

Abstract Kleine-Levin syndrome is a rare self-limited disorder which usually affects adolescent males and is characterized by episodic hypersomnia, increased appetite, and behavioral/psychiatric disturbances. Individuals are normal between the attacks.…

Continue ReadingThe Kleine-Levin syndrome. Report of a case and review of the literature.
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.
Read more about the article Immunohistochemical versus molecular detection of RAK antigens in breast cancer.
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Immunohistochemical versus molecular detection of RAK antigens in breast cancer.

Abstract RAK antigens p120, p42, and p25 exhibit molecular and immunological similarity to the proteins encoded by HIV-1 and are expressed by 95% of breast and gynecological cancer cases in…

Continue ReadingImmunohistochemical versus molecular detection of RAK antigens in breast cancer.
Read more about the article Gene expression and function of FMRFamide-related neuropeptides in the snail Lymnaea.
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Gene expression and function of FMRFamide-related neuropeptides in the snail Lymnaea.

Abstract FMRFamide and a large family of related peptides (FaRPs) have been identified in every major metazoan phylum examined, including chordates. In the pulmonate snail Lymnaea this family of neuropeptides…

Continue ReadingGene expression and function of FMRFamide-related neuropeptides in the snail Lymnaea.
Read more about the article Ultrastructural pathology of the heart in patients with beta-thalassaemia major.
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Ultrastructural pathology of the heart in patients with beta-thalassaemia major.

Abstract Patients with beta-thalassaemia major frequently suffer from hypersiderosis which leads to hemochromatosis of major organs such as the heart and liver. Little information exists about the ultrastructural pathology of…

Continue ReadingUltrastructural pathology of the heart in patients with beta-thalassaemia major.