Sökning: "genetic diagnostic test"

Visar resultat 1 - 5 av 25 avhandlingar innehållade orden genetic diagnostic test.

  1. 1. Exploring genetic diversity in natural and domestic populations through next generation sequencing

    Författare :Nima Rafati; Leif Andersson; Carl-Johan Rubin; Alvaro Martinez Bario; Craig Primmer; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Ecological adaptation; seasonal reproduction; Atlantic herring; domestication; speciation; rabbit; skeletal atavism; Shetland ponies; NGS; SMRT sequencing; genome; transcriptome; assembly; structural variation; genetic diversity; HCE; TSHR; SHOX; CRLF2;

    Sammanfattning : Studying genetic diversity in natural and domestic populations is of major importance in evolutionary biology. The recent advent of next generation sequencing (NGS) technologies has dramatically changed the scope of these studies, enabling researchers to study genetic diversity in a whole-genome context. LÄS MER

  3. 2. Gestational Diabetes Mellitus in North India. Prevalence, Diagnostic Criteria, Pathophysiological Aspects and Genetic and Non-Genetic Origin in the State of Punjab

    Författare :Geeti Puri Arora; diabetes och endokrinologi Genomik; []
    Nyckelord :Gestational dabetes mellitus; oral glucose tolerance test; type 2 diabetes; prevalence; diagnostic criteria; genetic variant; ethnic groups; insulin secretion; insulin resistance;

    Sammanfattning : Gestational diabetes mellitus(GDM) defines an unhealthy state of hyperglycaemia that develops in response to an otherwise normal physiological adaptive insulin resistance state during pregnancy. However, the exact plasma glucose levels differentiating the unhealthy GDM state from a normal pregnancy is unknown, and relies upon arbitrary cut off criteria based on associations with adverse health outcomes in mother and child. LÄS MER

  4. 3. Autoantibodies and genetic variation in rheumatoid arthritis : aspects on susceptibility and disease course

    Författare :Alf Kastbom; Thomas Skogh; Peter Söderkvist; Alex Karlsson-Parra; Linköpings universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Rheumatoid arthritis; autoantibodies; single-nucleotide polymorphisms; disease course; Rheumatology; Reumatologi;

    Sammanfattning : Rheumatoid arthritis (RA) is an autoimmune disease characterized by chronic inflammation and subsequent destruction of synovial joints. Although its causes remain largely unknown, a substantial genetic contribution is known to exist. LÄS MER

  5. 4. Charting the Genetic Landscape and Clonal Architectures of Pheochromocytoma

    Författare :Joakim Crona; Peyman Björklund; Felix Beuschlein; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : Genotypic and phenotypic inter patient heterogeneity characterize pheochromocytoma and paraganglioma (PPGL). Up to 60% of PPGL are associated with either somatic or germline mutations in at least 14 established disease causing genes. LÄS MER

  7. 5. Autosomal Dominant Leukodystrophy with Autonomic Symptoms and Rippling Muscle Disease : Translational Studies of Two Neurogenetic Diseases

    Författare :Jimmy Sundblom; Anja Smits; Raili Raininko; Niklas Dahl; Klas Kullander; Åsa Fex-Svenningsen; Marianne de Visser; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Inborn genetic diseases; Leukoencephalopathies; Lamin type B; Muscular disease; Caveolin 3; Neurology; Neurologi;

    Sammanfattning : There is a large variety of diseases caused by single-gene mutations. Although most of these conditions are rare, together they impose a significant burden to the population. LÄS MER