Read more about the article Variation in the number of FMR1 microsatellite repeats in three subgroups of the Hellenic population.
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Variation in the number of FMR1 microsatellite repeats in three subgroups of the Hellenic population.

Abstract Microsatellites have been used for human evolution and origin studies by comparing their frequency, diversity, and allele size. In this study we report the analysis of three microsatellite loci,…

Continue ReadingVariation in the number of FMR1 microsatellite repeats in three subgroups of the Hellenic population.
Read more about the article Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease.
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Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease.

Abstract There is a group of inherited cystic nephropathies that are characterized by juvenile onset recessive inheritance (familial juvenile nephronophthisis, FJN) or by adult onset dominant inheritance (medullary cystic disease,…

Continue ReadingChromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease.
Read more about the article FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population.
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FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population.

Abstract Mutations at FRAXA and FRAXE loci are due to expansions of a CGG trinucleotide repeat and are characterized by mental retardation. Here we report a pilot screening survey by…

Continue ReadingFRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population.
Read more about the article Rare beta-thalassemia alleles in the Greek and Greek Cypriot populations.
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Rare beta-thalassemia alleles in the Greek and Greek Cypriot populations.

Abstract

Continue ReadingRare beta-thalassemia alleles in the Greek and Greek Cypriot populations.
Read more about the article Familial discrete subaortic stenosis.
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Familial discrete subaortic stenosis.

Abstract Discrete subaortic stenosis (DSS) accounts for 8 to 20% of all cases of congenital left ventricular outflow tract obstruction. There have been few scattered reports of left ventricular obstructive…

Continue ReadingFamilial discrete subaortic stenosis.
Read more about the article A new factor V gene polymorphism (His 1254 Arg) present in subjects of african origin mimics the R2 polymorphism (His 1299 Arg)
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A new factor V gene polymorphism (His 1254 Arg) present in subjects of african origin mimics the R2 polymorphism (His 1299 Arg)

Abstract

Continue ReadingA new factor V gene polymorphism (His 1254 Arg) present in subjects of african origin mimics the R2 polymorphism (His 1299 Arg)
Read more about the article The heterozygous 20210 G/A prothrombin genotype is associated with early venous thrombosis in inherited thrombophilias and is not increased in frequency in artery disease.
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The heterozygous 20210 G/A prothrombin genotype is associated with early venous thrombosis in inherited thrombophilias and is not increased in frequency in artery disease.

Abstract A genetic variation in the 3'-untranslated region of the prothrombin mRNA (20210 G/A) has recently been reported to be associated with elevated plasma prothrombin levels and with an increased…

Continue ReadingThe heterozygous 20210 G/A prothrombin genotype is associated with early venous thrombosis in inherited thrombophilias and is not increased in frequency in artery disease.
Read more about the article Gene polymorphism at position -308 of the tumor necrosis factor alpha promotor is not associated with disease progression in multiple sclerosis patients.
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Gene polymorphism at position -308 of the tumor necrosis factor alpha promotor is not associated with disease progression in multiple sclerosis patients.

Abstract Tumor necrosis factor-alpha (TNFalpha) is a pluripotent proinflammatory cytokine and is thought to play an important role in the inflammatory process of multiple sclerosis (MS). A G-->A transition in…

Continue ReadingGene polymorphism at position -308 of the tumor necrosis factor alpha promotor is not associated with disease progression in multiple sclerosis patients.
Read more about the article Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.
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Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.

Abstract To identify and to characterize functionally the mutational basis of congenital myasthenic syndromes (CMS) linked to chromosome 17p.A total of 37 patients belonging to 13 CMS families, 9 of…

Continue ReadingChromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.