Search Results - "FERAK, V"

Deep common ancestry of Indian and western-Eurasian mitochondrial DNA lineages by Kivisild, T., Bamshad, M.J., Kaldma, K., Metspalu, M., Metspalu, E., Reidla, M., Laos, S., Parik, J., Watkins, W.S., Dixon, M.E., Papiha, S.S., Mastana, S.S., Mir, M.R., Ferak, V., Villems, R.

“…About a fifth of the human gene pool belongs largely either to Indo-European or Dravidic speaking people inhabiting the Indian peninsula. The ‘Caucasoid share’…”
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Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma by Plášilová, Martina, Stoilov, Ivaylo, Sarfarazi, Mansoor, Kádasi, Ludovít, Feráková, Eva, Ferák, Vladimír

“…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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Novel mutations in the homogentisate- 1,2-dioxygenase gene identified in Slovak patients with alkaptonuria by ZATKOVA, A

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High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL) by Minárik, G, Ferák, V, Feráková, E, Ficek, A, Poláková, H, Kádasi, L

“…Mutations in the GJB2 gene (connexin 26) represent a major cause of autosomal recessive non-syndromic hearing loss (NSHL) worldwide. In most Caucasian…”
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Identification of the deletions in the UGT1A1 gene of the patients with Crigler-Najjar syndrome type I from Slovakia by Zmetáková, I, Ferák, V, Minárik, G, Ficek, A, Poláková, H, Feráková, E, Kádasi, L

“…Crigler-Najjar syndrome type I (CN I) is a rare autosomal recessive disorder due to hepatic dysfunction of uridine diphospho-glucuronosyltransferase (UGT)…”
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Deletion ΔF508 and haplotype analysis of CFTR gene region in Slovak CF patients by KADASI, L, GECZ, J, MATUSEK, J, KRIVUSOVA, T, FERAK, V, DEVOTO, M, HRUSKOVIC, J, ROMEO, G

“…Analysis of a sample of 50 unrelated cystic fibrosis (CF) patients and 46 nuclear families from Slovakia (Czechoslovakia) by the polymerase chain reaction and…”
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TaqI digestion of PCR product increases the informativity of St14 VNTR for the diagnosis of hemophilia A by Saksova, L, Gecz, J, Kadasi, L, Ferak, V

“…Recently, a pair of PCR primers have been described that make it possible to amplify a highly polymorphic VNTR locus DX552 (St14). PCR products range in size…”
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Lactase Haplotype Diversity in the Old World by Hollox, Edward J., Poulter, Mark, Zvarik, Marek, Ferak, Vladimir, Krause, Amanda, Jenkins, Trefor, Saha, Nilmani, Kozlov, Andrew I., Swallow, Dallas M.

“…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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Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia by Plásilová, M, Feráková, E, Kádasi, L, Poláková, H, Gerinec, A, Ott, J, Ferák, V

“…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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Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset by Gencik, A, Gencikova, A, Ferák, V

“…This paper presents some characteristics of the population genetics of primary congenital glaucoma in Slovakia. The overall incidence in Slovakia is 1:10,500,…”
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PKU in Slovakia : mutation screening and haplotype analysis by KADASI, L, POLAKOVA, H, FERAKOVA, E, HUDECOVA, S, BOHUSOVA, T, SZOMOLAYOVA, I, STRNOVA, J, HRUSKOVIC, I, MOSCHONAS, N. K, FERAK, V

“…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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Population genetic aspects of primary congenital glaucoma. II. Fitness, parental consanguinity, founder effect by Ferák, V, Gencik, A, Gencikova, A

“…This paper deals with some other population genetic aspects associated with the incidence of a type of primary congenital glaucoma that occurs very frequently…”
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Haplotype analysis of the CFTR gene region and the proportion of delta F508 deletion in Slovak patients with cystic fibrosis by Kádasi, L, Gécz, J, Krivusová, T, Matúsek, J, Ferák, V

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A unique RFLP haplotype at the phenylalanine hydroxylase locus in Czechoslovak Gypsies with phenylketonuria by Feráková, E, Ferák, V, Kádasi, L, Poláková, H, Hejcmanová, L, Pijacková, A

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Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis by Hamosh, A, Rosenstein, B J, Nash, E, Curristin, S M

“…Cystic fibrosis is the most common lethal autosomal recessive childhood disorder in the white population, occurring in approximately 1 in 2500 live births 1 …”
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High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots by ZATKOVA, Andrea, BELTRAN VALERO DE BERNABE, Daniel, POLAKOVA, Helena, ZVARIK, Marek, FERAKOVA, Eva, BOSAK, Vladimir, FERAK, Vladimir, KADASI, Udovit, RODRIGUEZ DE CORDOBA, Santiago

“…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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Are population-genetic mechanisms responsible for clustering of cases of Creutzfeldt-Jakob disease? by Ferak, V, Kroupova, Z, Mayer, V

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Random and non-random component of inbreeding coefficient in localities with high incidence of alkaptonuria in Slovakia (author's transl) by Srsen, S, Ferák, V, Koska, L, Kaprálik, I

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Analysis of some biological parameters in a population living within the effective range of a power station, concerning possible genetic risk (author's transl) by Gencík, A, Ferák, V, Murínová, M, Chovan, E

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Frequency of cystic fibrosis mutations and associated haplotype distribution in Slovak CF patients by Puliti, A, Orriols, J J, Ronchetto, P, Fenu, L, Devoto, M, Romeo, G, Kadasi, L, Gecz, J, Ferak, V

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