Genetika citogenetika. (B). Klinikinė genetika (B). Medicinos. Žmogaus ir . Po-Ru Loh, Bhatia G, Gusev A, Kucinskas V, Kucinskiene ZA et al. Kučinskas V. Genetika. Šviesa, , p. ISBN 3. Langlois S, Brock JA, Wilson RD, Audibert F,. Brock JA, Carroll J, Cartier L, Gagnon A. Abstract. The chemokine receptor CCR5 is encoded by the CMKBR5 gene located on the p region of human chromosome 3, and constitutes the major.
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Genetic diversity within the RW phenylketonuria mutation lineages in Europe. Environmental releases of radioactivity and the incidence of thyroid disease at the Ignalina Nuclear Power Plant.
Molekulārās ģenētikas zinātniskā laboratorija | RSU
New DNA polymorphisms define ethnically distinct haplotypes in the human transferrin receptor gene. Ilona MandrikaKudinskas. Because of that, we have been able to recruit most of the registered pituitary adenoma patients in Latvia.
Recombinant chromosome 14 due to maternal pericentric inversion. Gimimo data ir vieta: BMC Musculoskelet Disord Investigation of interplay between multiple determinants influencing response to metformin: LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Geneitka Distal Monosomy 5p Recurrent fetal syndromic spina bifida associated with 3q A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome Terminal deletion kucinsks chromosome 18q in apatient with multiple congenital malformations including mental retardation.
BMC Res Notes 8. LysGlu mutation causes acampomelic campomelic dysplasia: Highly polymorphic microsatellites IRI3.
CF identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia. Rihards Saksis Laboratory assistant Phone: Phenylketonuria mutations and linked haplotypes in the Lithuanian population: Continuing the successful collaborations, like population structure and schizophrenia research consortium, we have engaged in studies of genetic factors in Helicobacter pylori infection project manager Voter J.
Down syndrome as a result of a 3: Ethnic variation in the mitochondrial targeting sequence polymorphism of MnSOD. Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.
Besides that, we are obtaining and studying pituitary adenoma stem-like cell cultures, in order to analyse their origin and differentiation as well as to create pituitary adenoma cell model, in which we could independently evaluate genegika effectiveness and molecular maker dynamics. Origin of the most common pah mutation RW in the Lithuanian population.
Acting senior researcher Phone: Clinical and molecular characterization of a second case of 7p Tu ir tavo genai.
Latvian Biomedical Research and Study Centre – Directions and labs
In these studies, we have found and published associations between several diseases and various genetic factors. Molecular Basis of Cystic Fibrosis in Lithuania: Vilniaus universitetas,85 p. European Journal of Human Genetics. Genetikos ir genomikos pagrindai.
Alpha-Mannosidosis presenting with two different clinical phenotypes. Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.
Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania. Projektas finansuojamas Vilniaus universiteto. ABCA4 disease progression and a proposed strategy for gene therapy.