Search Results - "Ferak, Vladimir"
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Population genetic data for 16 STR loci in Slovakia
Published in Legal medicine (Tokyo, Japan) (01-09-2018)“…•Significant difference in allele frequency found in comparison with four geographically related populations.•No linkage disequilibrium observed between two…”
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The Western and Eastern Roots of the Saami—the Story of Genetic “Outliers” Told by Mitochondrial DNA and Y Chromosomes
Published in American journal of human genetics (01-04-2004)“…The Saami are regarded as extreme genetic outliers among European populations. In this study, a high-resolution phylogenetic analysis of Saami genetic heritage…”
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High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots
Published in American journal of human genetics (01-11-2000)“…Alkaptonuria (AKU) is an autosomal recessive disorder caused by the deficiency of homogentisate 1,2 dioxygenase (HGO) activity. AKU shows a very low prevalence…”
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Reconstructing the Population History of European Romani from Genome-wide Data
Published in Current biology (18-12-2012)“…The Romani, the largest European minority group with approximately 11 million people [1], constitute a mosaic of languages, religions, and lifestyles while…”
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A counter-clockwise northern route of the Y-chromosome haplogroup N from Southeast Asia towards Europe
Published in European journal of human genetics : EJHG (01-02-2007)“…A large part of Y chromosome lineages in East European and East Asian human populations belong to haplogroup (hg) NO, which is composed of two sister clades…”
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Phylogeography of Y-Chromosome Haplogroup I Reveals Distinct Domains of Prehistoric Gene Flow in Europe
Published in American journal of human genetics (2004)“…To investigate which aspects of contemporary human Y-chromosome variation in Europe are characteristic of primary colonization, late-glacial expansions from…”
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Lactase Haplotype Diversity in the Old World
Published in American journal of human genetics (01-01-2001)“…Lactase persistence, the genetic trait in which intestinal lactase activity persists at childhood levels into adulthood, varies in frequency in different human…”
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Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
Published in Journal of medical genetics (01-04-1999)“…Primary congenital glaucoma (PCG) is an autosomal recessive eye disease that occurs at an unusually high frequency in the ethnic isolate of Roms (Gypsies) in…”
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A counter-clockwise northern route of the Y-chromosome haplogroup N from Southeast Asia towards Europe
Published in European journal of human genetics : EJHG (01-02-2007)“…A large part of Y chromosome lineages in East European and East Asian human populations belong to haplogroup (hg) NO, which is composed of two sister clades…”
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Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia
Published in Human heredity (01-01-1998)“…The autosomal recessive form of primary congenital glaucoma (gene symbol GLC3) has been recently mapped to two different loci, GLC3A (at 2p21), and GLC3B (at…”
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Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in Europe
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Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation
Published in Human mutation (1995)“…Cystic fibrosis (CF) is caused by mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) that codes for a cAMP-regulated…”
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Lactase haplotype diversity in the Old World
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Y chromatin frequency in white blood cells of newborn males
Published in Journal of perinatal medicine (1980)“…The frequency of fluorescent Y chromatin bodies was studied in white blood cells of 30 newborn males during the first 5 days of life. No significant day-to-day…”
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PKU in Slovakia : mutation screening and haplotype analysis
Published in Human genetics (1995)“…The restriction fragment length polymorphism haplotypes and seven common mutations in the phenylalanine hydroxylase gene were analysed in 49 unrelated Slovak…”
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