Search for dissertations about: "genetic variant"

Showing result 6 - 10 of 332 swedish dissertations containing the words genetic variant.

  2. 6. Genetic characterisation of Meningococci

    Author : Paula Mölling; Anders Sjöstedt; Linköpings universitet; []
    Keywords : MEDICINE; MEDICIN;

    Abstract : Meningococci (Mc) are one of the major causes of meningitis and septicaemia throughout the world. Non-culture diagnostic methods are recognised as important tools for optimal laboratory confirmation of Me infections, due in part to the increased use of preadmission antibiotics. READ MORE

  4. 7. Biochemical and genetic markers after subarachnoid haemorrhage

    Author : Ludvig Z Csajbok; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; subarachnoid haemorrhage; biochemical marker; genetic marker; outcome;

    Abstract : ABSTRACT Background: Subarachnoid haemorrhage is a devastating disease with high morbidity and mortality despite novel treatment options are available. There are no established methods to measure the brain damage occurring due to the bleed and its complications and to predict early neurological outcome of the disease. READ MORE

  5. 8. Genetic Risk Factors for Cervical Carcinoma in situ

    Author : Anna Beskow; Peter L Stern; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Cervical carcinoma; human papillomavirus; viral load; long-term infection; HLA class II; p53; E6 variant; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Abstract : Oncogenic human papillomaviruses (HPVs) are implicated in 99.7 % of cervical cancer cases but require the co-operation of other factors. To investigate potential genetic risk factors we have typed the HLA class II DRB1 and DQB1 loci in 478 women diagnosed with cervical carcinoma in situ and in 608 age-matched controls. READ MORE

  6. 9. Genetic variants and the risk of type 2 diabetes

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

    Abstract : 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. READ MORE

  7. 10. Genetic Screening in Patients Suspected of Inherited Bleeding Disorders

    Author : Marcus Fager Ferrari; Malmö Klinisk koagulationsmedicin; []
    Keywords : 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;

    Abstract : 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. READ MORE