Sökning: "co-segregation"

Visar resultat 1 - 5 av 6 avhandlingar innehållade ordet co-segregation.

  1. 1. Genome Variation in Human Populations : Exploring the Effects of Demographic History and the Potential for Mapping of Complex Traits

    Författare :Åsa Johansson; Ulf Gyllensten; Marta Alarcon; Andrew Clark; Uppsala universitet; []
    Nyckelord :Genetics; genetics; evolution; microsatellie; SNP; selection; linkage disequilibrium; haplotype; Genetik;

    Sammanfattning : A major challenge in human genetics is to understand the genetic variation underlying common diseases. In this thesis, I focus on forces creating differences between individuals and genomic regions, methods for characterizing genomic variation, and the association between genomic and phenotypic variation. LÄS MER

  3. 2. Genetic characterization of families with von Willebrand disease

    Författare :Elsa Lanke; Malmö Klinisk koagulationsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mutation; bleeding; coagulation; von Willebrand disease; genetics;

    Sammanfattning : von Willebrand disease (VWD) is the most common hereditary bleeding disorder. It is caused by quantitative and/or qualitative defects of the von Willebrand factor (VWF). The severity of the disease can vary considerably, as can the hereditary patterns. LÄS MER

  4. 3. Heredity in Parkinson's disease. From rare mutations to common genetic risk factors

    Författare :Andreas Puschmann; Sektion IV; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Parkinson s disease; parkinsonism; genetics; alpha-synuclein; SNCA duplicaion; SNCA triplication; LRRK2; PARKIN; PARK2; VPS35; EIF4G1; rare variants; digenic inheritance; heritability;

    Sammanfattning : This study investigated genetic causes of Parkinson's disease (PD) and parkinsonism in southern Sweden. The extensive Lister Family with parkinsonism caused by duplications and triplications of the gene for alpha-synuclein (SNCA) was studied. Clinical, genetic and genealogical data were compiled and evaluated. LÄS MER

  5. 4. Atomistic modeling of interfaces in WC-Co cemented carbides

    Författare :Martin Petisme; Chalmers tekniska högskola; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; analytic bond order potentials; weing; WC-Co; grain boundary sliding; grain boundaries; density functional theory; molecular dynamics; interfaces; cemented carbides;

    Sammanfattning : Grain and phase boundaries are crucial in understanding the properties of real materials. In this thesis, interfaces in WC–Co cemented carbide are modeled atomistically using density functional theory (DFT) and analytic interatomic potentials. LÄS MER

  7. 5. Genomic and dental investigations of individuals and families with non-syndromic cleft lip and/ or cleft palate, Van der Woude and popliteal pterygium syndromes

    Författare :Marie Pegelow; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Van der Woude syndrome (VWS) is the most common oral cleft syndrome, accounting for two percent of all cleft lip and/or cleft palate (CL/P) cases. The main characteristics of VWS are lip pits (LP), cleft lip (CL), cleft lip and palate (CLP), cleft palate (CP) and/or hypodontia (H). LÄS MER