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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Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania. 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. Functional characterization of the ZEB2 regulatory landscape.
Mosaic chromosome 21 abnormality in the patient with syndromic cleft lip and cleft palate. 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.
Research Directions and labs.
Kucinsks characterization of northeastern Italian population isolates in the context of broader European genetic diversity. PCDH18 — A new candidate gene for intellectual disability? Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
European Journal of Medical Genetics 60— Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance components analysis.
Latvijas biomedicīnas pētījumu un studiju centrs – Virzieni un grupas
Gimimo data ir vieta: Highly polymorphic microsatellites IRI3. A case of lysinuric protein intolerance presenting with hepatosplenomegaly. European Journal of Human Genetics. A novel de novo 1.
Severe neurological symptoms conceal inheritable disorder caused by partial deficiency of hypoxanthine-guanine phosphoribosyltransferase as Lesch Nyhan syndrome variant – The first case detected in Lithuania. Human genetics and disease mechanisms. Range of clinical severity and previously not described symptoms. Rihards Saksis Laboratory assistant Phone: Researches are based on cohort more than patients at this momentthat has been deliberately collected since yearinvolving major medical institutions in Latvia – Pauls Stradins Clinical University Hospital and Riga East Clinical University Hospital.
Clinical and Molecular Analysis. Clinical, cytogenetic and molecular study of a case of ring chromosome LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. A European Spectrum of Pharmacogenomic Biomarkers: PAH gene mutations identified in Lithuania.
Kaspars MegnisMSc. Cytogenetic prenatal diagnosis in Lithuanian human genetics centre: Relatives with Opposite Chromosome Constitutions, rec 10 dup 10p inv 10 p Mitochondrial lineages in the Roma.
Human anotocephaly aprosopus, acrania-synotia in the Vilnius anatomical collection. Alpha-Mannosidosis presenting with two different clinical phenotypes. Clinical and molecular characterisation of Osteogenesis imperfecta in kucibskas from Lithuania.
Close mobile search navigation Article navigation. Because of that, we have been able to recruit most of the registered pituitary adenoma patients in Latvia. New DNA polymorphisms define ethnically distinct haplotypes in the human transferrin receptor gene.
Molekulārās ģenētikas zinātniskā laboratorija
Monografijos kartu su kitais autoriais: 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. Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness. Results of Mass Neonatal Screening in Lithuania.