Search for dissertations about: "genetic variant"

Showing result 11 - 15 of 332 swedish dissertations containing the words genetic variant.

  2. 11. Haemophilia B - Diagnostic Insights, Genetic Aspects and Clinical Outcomes

    Author : Kristina Kihlberg; Institutionen för translationell medicin; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Coagulation factor IX; Haemophilia B; Haemophilia A; F9 variant; Assay discrepancy; Chromogenic assay; One-stage assay; Bleeding disorders; Quality of life; Immune tolerance induction; Non-neutralising antibodies; Inhibitors; Treatment Adherence; Arthropathy;

    Abstract : Haemophilia B (HB) is a rare inherited bleeding disorder caused by the deficiency of coagulation factor IX (FIX). The major clinical issues are bleedings, often targeting the joints, and the development of neutralising antibodies, i.e. inhibitors, to the FIX replacement therapy. READ MORE

  4. 12. Genetics of type 2 diabetes and the metabolic syndrome

    Author : Mia Klannemark; Malmö Institutionen för kliniska vetenskaper; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; diabetology; secreting systems; Endocrinology; PDE3B; PPARG; LPL; metabolic syndrome; diabetes; genetic; HSL; UCP2; Endokrinologi; sekretion; diabetologi;

    Abstract : Type 2 diabetes and the metabolic syndrome are highly prevalent disorders with severe complications such as cardiovascular disease. The aetiology of type 2 diabetes and the metabolic syndrome is not known, but the interaction between genetic factors and environmental triggers is important. READ MORE

  5. 13. Functional Role of Genetic Polymorphisms Associated with Systemic Lupus Erythematosus

    Author : Sara E Löfgren; Ulf Gyllensten; Jan Hillert; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; autoimmunity; systemic lupus erythematosus; genetic association; single nucleotide polymorphism; IRF5; CD226; miR-146a; Medical Science; Medicinsk vetenskap; Medical Genetics; Medicinsk genetik;

    Abstract : Systemic lupus erythematosus (SLE) is a chronic and complex autoimmune disorder characterized by a failure in the mechanism of self-tolerance and production of autoantibodies, potentially affecting any organ in the body. The genetic factors behind the disease have been extensively studied in the past years and to date a list of more than 30 loci have been associated with SLE. READ MORE

  6. 14. Breast cancer in young women. Aspects of heredity and contralateral disease

    Author : Annelie Augustinsson; LUCC: Lunds universitets cancercentrum; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Breast cancer; Early-onset; Genetic counseling; Genetic testing; BRCA1 and BRCA2; Contralateral breast cancer; Breast cancer; Early-onset; Genetic counseling; Genetic testing; BRCA1 and BRCA2; Contralateral breast cancer;

    Abstract : Breast cancer is the most commonly diagnosed cancer among women in Sweden, as well as worldwide. In Sweden, 8,288 women were diagnosed with invasive breast cancer in 2019, out of whom approximately 1.5% were younger than 35 years of age. READ MORE

  7. 15. Genetic studies of colorectal cancer

    Author : Johanna Skoglund; Karolinska Institutet; Karolinska Institutet; []
    Keywords : colorectal cancer; linkage analysis; TGFBR1; case-control study; meta-analysis;

    Abstract : Colorectal cancer is the third most commonly diagnosed cancer worldwide with an incidence rate of over 1 million cases per year. A genetic contribution has been suggested to be involved in around 35% of all colorectal cancer cases. READ MORE