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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Finally we are interested in elaboration the mechanisms of metabolic regulation and its interplay with inflammatory processes of adipose tissue as well as patient stem cell derived models of diabetes including the characterisation of existing and new drugs. These alleles were found respectively in only 2 or 1. Vilniaus universitetas,85 p. Ilze Izabella DinduneBSc. Physiological Genomics 48, — BMC Musculoskelet Disord Recombinant chromosome 14 due to maternal pericentric inversion.

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies.

Kučinskas Vaidutis

Considering specific clinical features as evidence of pathogenic copy number variants. A new single gene kucinskass on 2q A European Spectrum of Pharmacogenomic Biomarkers: Down syndrome as a result of a 3: Nova Science Publishers,p.


Mathematical model of pharmacokinetics for personalized optimization of metformin therapy. A case of lysinuric protein intolerance presenting with hepatosplenomegaly. Population genetics of Lithuanians.

Latvian Biomedical Research and Study Centre – Directions and labs

Cytogenetic prenatal diagnosis in Lithuanian human genetics centre: Highly polymorphic microsatellites IRI3. Taking advantages of Biobank developments and established collaborations with hospitals and medical doctors we aim to perform omics based research on number of proprietary directions involving identification of new disease and therapy related biomarkers and drug targets as well as their characterisation using cell and animal model systems followed by possible clinical validation and development of diagnostics and therapies.

LysGlu mutation causes acampomelic campomelic dysplasia: Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: Valentin Haecker kucinsias his examination of the phenotype. Ethnic variation in the mitochondrial targeting sequence polymorphism of MnSOD.

Human anotocephaly aprosopus, acrania-synotia in the Vilnius anatomical collection. Familial Distal Monosomy genettika Vilniaus universitetas, Medicinos fakultetas,p. Genetic Variation and Genomic Origin of Lithuanians. Nat Neurosci 19, — Citing articles via Web of Science Duplication of segment 1p21 following paternal insertional translocation, ins 6;1 q25;p Helvijs Niedra Laboratory assistant Phone: High frequency of the c. Environmental releases of radioactivity and the incidence of thyroid disease at the Ignalina Nuclear Power Plant.


Am J Hum Genet 97, — A View from the North—East. Identification of novel mutations in the COL1A1 gene.

Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients. Vilniaus universiteto leidykla,95 p. Birth Defects Research Part A: Ilona MandrikaMSc. Research Directions and labs. GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich Ataxia cellular models.

Molekulārās ģenētikas zinātniskā laboratorija

Balkan Journal of Medical Genetics 19 2 Phenylketonuria mutations and linked haplotypes in the Lithuanian population: A novel de novo 1. Secondly, we are performing the studies on pathogenesis of pituitary tumors and identification of molecular biomarkers for prediction of tumor development and therapy efficiency.

Gimimo data ir vieta: Sign In or Create an Account. Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

Mental retardation and autism associated with recurrent 16p