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Visar resultat 1 - 5 av 53 avhandlingar som matchar ovanstående sökkriterier.

  1. 1. Hereditary risk factors for stroke in humans - Association studies with emphasis on familial and genotypic factors

    Författare :Håkan Lövkvist; Lund Neurologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; allelic association; candidate genes; case-control; family history; ischemic stroke; polymorphisms.;

    Sammanfattning : Background Stroke is a serious vascular disorder that comprises intracerebral hemorrhages, subarachnoid hemorrhages and ischemic stroke (IS). The etiology of stroke, including hereditary components induced by cellular mechanisms, is therefore a research field of vital importance. LÄS MER

  3. 2. Genetic studies of diabetes in northern Sweden

    Författare :Sofia Mayans; Dan Holmberg; Mats Eliasson; Outi Vaarala; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Diabetes; families; genetic; association; SNP; linkage; TCF7L2; CTLA-4; Calpain-10; Medical genetics; Medicinsk genetik;

    Sammanfattning : Diabetes mellitus represents a group of metabolic disorders caused by both environmental and genetic factors. The two most common forms of diabetes are type 2 diabetes (T2D) and type 1 diabetes (T1D). T2D is associated with obesity and the disease is caused by insulin resistance and pancreatic b-cell dysfunction. LÄS MER

  4. 3. Dissecting the Genetic Basis of Systemic Lupus Erythematosus : The Pursuit of Functional Variants

    Författare :Angélica María Delgado Vega; Ulf Gyllensten; Marta E. Alarcon-Riquelme; Jane Worthington; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Systemic Lupus Erythematosus; SLE; Genetic Mapping; Association Studies; Functional Variants; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Systemisk Lupus Erythematosus; SLE; Genetik; Genetisk Association; Funktionella Varianter; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Lupus Eritematoso Sistémico; LES; Estudios de Asociación Genética; Variantes Funcionales; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Medical Genetics; Medicinsk genetik; Medical Science; Medicinsk vetenskap;

    Sammanfattning : Systemic lupus erythematosus (SLE) is a chronic and systemic autoimmune disease that primarily affects women during the childbearing years. SLE is characterized by the production of autoantibodies against nucleic acids and their interacting proteins. LÄS MER

  5. 4. Genetic studies of two inherited human phenotypes : Hearing loss and monoamine oxidase activity

    Författare :Jorune Balciuniene; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; linkage analysis; hearing loss; digenic inheritance; allelic association; monoamine oxidase; human genetic diversity; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : This thesis focuses on the identification of genetic factors underlying two inherited human phenotypes: hearing loss and monoamine oxidase activity. Non-syndromic hearing loss segregating in a Swedish family was tested for linkage to 13 previously reported candidate loci for hearing disabilities. LÄS MER

  7. 5. Novel statistical methods for genome-wide association summary statistics

    Författare :Zheng Ning; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : A general objective of genetic studies is to understand the genetic basis of complex traits such as height, body mass index (BMI), disease endpoints, etc. Such researches have been facilitated due to the completion of the human genome project and developments of high-throughput technologies. LÄS MER