Sökning: "complete linkage"

Visar resultat 6 - 10 av 39 avhandlingar innehållade orden complete linkage.

  1. 6. Mitochondrial and chromosomal genomics in type 2 diabetes

    Författare :Avinash Abhyankar; Genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; adaptive evolution; nuclear-mitochondrial interaction; linkage analysis; QTL; phylogenetic analysis; congenic; type 2 diabetes; GK rat;

    Sammanfattning : Understanding the mechanisms of complex polygenic diseases like type 2 diabetes (T2D) is as complex as their nature. Cellular processes involved in glucose homeostasis need high and reliable energy supply. Mitochondria are the major energy producers in mammalian cells. LÄS MER

  3. 7. Clinical and genetic aspects on cluster headache

    Författare :Christina Sjöstrand; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Cluster headache; natural history; familial CH; atypical CH; genetics; association; linkage; gene expression;

    Sammanfattning : Cluster headache (CH), a primary neurovascular headache syndrome, is characterized by recurrent, unilateral, short-lasting attacks of excruciating pain in the temporal region. The pain is considered one of the most severe pain conditions known to humans. LÄS MER

  4. 8. Welander distal myopathy : clinical and genetic studies

    Författare :Gabrielle Åhlberg; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Welander distal myopathy; neurogenic component; rimmed vacuoles; linkage; chromosome 2p13; candidate genes; common founder; homozygous form; variable clinical expression;

    Sammanfattning : Distal myopathies are a group of muscular disorders described in many countries with different inheritance patterns and variable progression rates. Welander distal myopathy (WDM) is characterised by autosomal dominant inheritance, late onset and distal distribution of muscular weakness. Most cases originate from the middle parts of Sweden. LÄS MER

  5. 9. Progressive familial intrahepatic cholestasis : clinical, biochemical, genetic and histopathological aspects

    Författare :Henrik Arnell; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Progressive familial intrahepatic cholestasis PFIC ; genetic linkage analysis; ABCB11; immunohistochemistry; partial external biliary diversion PEBD ; nuclear scintigraphy; fibrosis; histological regress;

    Sammanfattning : In the early 1980's, most cases of neonatal cholestasis (often referred to as neonatal hepatitis) remained unexplained. By today, many of these diseases have been characterized in detail. LÄS MER

  7. 10. Eczema in childhood and adolescence

    Författare :Emma Johansson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Background: Eczema (atopic dermatitis) is an itchy inflammatory skin disease that affects many children and adolescents. Eczema associated with IgE antibodies is called atopic eczema (AE), while other eczema is called nonatopic eczema (non-AE). Having a filaggrin (FLG) mutation is associated with increased risk for eczema. LÄS MER