Sökning: "genetic knowledge"

Visar resultat 11 - 15 av 614 avhandlingar innehållade orden genetic knowledge.

  1. 11. Genetic Screening in Patients Suspected of Inherited Bleeding Disorders

    Författare :Marcus Fager Ferrari; Malmö Klinisk koagulationsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Bleeding; Inherited Bleeding Disorders; Platelet Dysfunction; Thrombocytopenia; Genetic Screening; High-Throughput Sequencing; STX11; STXBP2; UNC13D; FGB; COL1A1; COL3A1; COL5A1; COL5A2; GNE; Sialic Acid; Oseltamivir;

    Sammanfattning : Inherited bleeding disorders constitute a heterogeneous group of genetic diseases, affecting virtually all major components of the hemostatic system. The diagnostics are potentially complex, and a high proportion of patients remain without a conclusive diagnosis following work-up. LÄS MER

  3. 12. Genetic variants and the risk of type 2 diabetes

    Författare :Anna Jonsson; diabetes och endokrinologi Genomik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; insulin secretion; Type 2 diabetes; genome-wide association studies; genetic association;

    Sammanfattning : Type 2 diabetes is rapidly increasing worldwide thereby posing a severe burden on individual and public health. Although this increase can be ascribed to both genetic and environmental factors, until 2007, the genetic factors have been largely restricted to a few candidate genes based upon our limited knowledge of the pathogenesis of the disease. LÄS MER

  4. 13. Search for Type 2 Diabetes Susceptibility Genes Using Multiple Approaches

    Författare :Cecilia Lindgren; Malmö Institutionen för kliniska vetenskaper; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; single nucleotide polymorphism SNP ; transmission-disequilibrium test TDT ; genetic variation; single strand conformational polymorphism SSCP ; gene expression; insulin; glucose; genome-wide scan; linkage; genetic association; Type 2 diabetes; early onset diabetes EOD ; sekretion; diabetologi; Endokrinologi; diabetology; Endocrinology; secreting systems; signal-to-noise ratio SNR ;

    Sammanfattning : Type 2 diabetes mellitus is a multifactorial disorder characterized by chronic hyperglycemia resulting from pancreatic dysfunction and insulin resistance. It is a common disorder with a complex pattern of inheritance, likely to reflect the influence of multiple genetic and environmental factors on the diabetes risk. LÄS MER

  5. 14. Dynamics of inbreeding and genetic rescue in a small population

    Författare :Malin Hasselgren; Karin Norén; Carles Vilà; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; inbreeding; inbreeding depression; genetic rescue; fitness; genomics; conservation genetics; mutational load; arctic fox; pedigree; gene flow; zoologisk ekologi; Animal Ecology;

    Sammanfattning : Isolation at small population size can reduce individual fitness and impede population growth caused by inbreeding and genetic drift (i.e. inbreeding depression). Inbreeding depression can however be circumvented by gene flow from unrelated individuals through masking of recessive deleterious alleles and contribute to population persistence (i. LÄS MER

  7. 15. Genomic dynamics over contemporary time frames in wild salmonid populations

    Författare :Sara Kurland; Linda Laikre; Kathryn Elmer; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Conservation genomics; genetic monitoring; whole-genome sequencing; metapopulation; salmonid; brown trout; effective population size; Pool-seq; genetic connectivity; intraspecific diversity; sympatric populations; populationsgenetik; Population Genetics;

    Sammanfattning : Genetic diversity is the foundation of all biological variation. An approach for sustainable use and protection of genetic diversity is continuous sampling over space and time, i.e. monitoring. LÄS MER