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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Acting senior researcher Phone: Schizophrenia risk from complex variation of complement component 4. Tu ir tavo genai.
Molekulārās ģenētikas zinātniskā laboratorija | RSU
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity. Novel ANO5 mutation c. Considering specific clinical features as evidence of pathogenic copy number variants.
Human genetics and disease mechanisms. CNV analysis in the Lithuanian population. Am J Hum Genet 97, — Familial variables as predictors of psychological maladjustment in Lithuanian children with phenylketonuria.
Investigation of interaction of smoked dietary products with gut microbiome. Y chromosome and mitochondrial DNA variation and the origin of Lithuanians. Molecular Basis of Cystic Fibrosis in Lithuania: Recombinant chromosome 14 due to maternal pericentric inversion.
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes. PCDH18 — A new candidate gene for intellectual disability?
Physiological Genomics 48, — Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness.
Molekulārās ģenētikas zinātniskā laboratorija
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Biological insights from schizophrenia-associated genetic loci. Mosaic chromosome 21 abnormality in the patient with syndromic cleft lip and cleft palate.
Severe neurological symptoms conceal inheritable disorder caused by partial deficiency of kucinskzs phosphoribosyltransferase as Lesch Nyhan syndrome variant – The first case detected in Lithuania. Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance components analysis. Following the genetic studies on diabetes, we first engaged the studies of T2D pharmacogenomics and drug action mechanisms, establishing prospective cohort of T2D patients more than patients at this moment and doing several small clinical studies.
Genetikos ir genomikos pagrindai. Clinical and molecular characterisation of Osteogenesis imperfecta in patients from Lithuania.
BMC Med Genet Email alerts New issue alert. Genetic Variation and Genomic Origin of Lithuanians. European Journal of Human Genetics.
Latvian Biomedical Research and Study Centre – Directions and labs
Human mitochondrial DNA control region sequence variations in Lithuanian population. Ilze ElbereMSc. Citing articles via Web of Science Array CGH analysis of a cohort of Russian patients with intellectual disability. Our goal is to identify molecular characteristics that are determining tumorigenesis and differentiation of pituitary adenomas as well as progression, aggressiveness and recurrence of tumours.
Clinical and molecular characterization of a second case of 7p It is further planned to use health care medical information for the research of other multifactorial diseases as well.
GRP75 overexpression rescues frataxin deficiency genetioa mitochondrial phenotypes in Friedreich Ataxia cellular models. In previous years, we have done several candidate gene and replication research projects, in purpose to study genetic predisposition of such multifactorial diseases, like diabetes, cardiovascular and endocrine diseases as well as various metabolic parameters.