Search for dissertations about: "genotype"

Showing result 6 - 10 of 697 swedish dissertations containing the word genotype.

  2. 6. Bleeding tendency and health-related quality of life in carriers of haemophilia

    Author : Anna Olsson; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Carriers of haemophilia; Bleeding; SF-36; Thrombin generation; Genotype;

    Abstract : Haemophilia A and B are X-linked disorders caused by impaired synthesis of coagulation factors VIII and IX, respectively. Women who carry the haemophilia trait have about 50 % of normal factor levels. READ MORE

  4. 7. Phenotypes and genotypes in families with hereditary tapetoretinal degenerations

    Author : Vesna Ponjavic; Lund Oftalmologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; peripherin.; rhodopsin; cone-rod dystrophy; retinitis pigmentosa; choroideremia; central areolar choroidal dystrophy; mutation screening; full-field electroretinography; Phenotype; genotype; Ophtalmology; Oftalmologi;

    Abstract : The purpose of the study was to characterise the phenotype with emphasis on electroretinography in four different types of hereditary retinal degeneration and to correlate it to a genotype when possible. Two methods were used: full-field electroretinography for objective assessment of retinal function and mutation screening of blood samples for detection of gene alterations. READ MORE

  5. 8. Osteogenesis Imperfecta : Genetic and Therapeutic Studies

    Author : Katarina Lindahl; Östen Ljunggren; Andreas Kindmark; Carl-Johan Rubin; David Sillence; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; OI; BMD; Genotype; Phenotype; Pharmaco-genetics; Bisphosphonate; Therapy; Gene-therapy; Mutation; Collagen; Collagen type I; Allele-specific silencing; siRNA; RNAi; COL1A1; COL1A2; Stroke; C-propeptide; Mineralization; Heterozygous disadvantage; Genetics; Genetik; Medicin; Medicine; Medical Genetics; Medicinsk genetik;

    Abstract : Osteogenesis imperfecta (OI) is a heterogeneous disease of connective tissue, the cardinal symptom being fractures and severity ranging from mild to lethal. Dominant mutations in collagen I, encoded by COL1A1 and COL1A2, cause >90% of cases. READ MORE

  6. 9. Identification of new disease mechanisms and treatments for type 2 diabetes based on genetic variants and gene expression networks

    Author : Annika Axelsson; Diabetes - öpatofysiologi; []
    Keywords : Type 2 diabetes; insulin; ADRA2A; genotype; gene network analysis; SOX5; drug repositioning; sulforaphane; clinical study; typ 2-diabetes; insulin; ADRA2A; genotyp; gennätverksanalys; SOX5; sulforafan; klinisk studie;

    Abstract : Improved understanding of the disease mechanisms underlying type 2 diabetes (T2D) is needed, and so are new treatments.A new T2D risk variant was recently identified in ADRA2A, which encodes the α2A-adrenergic receptor. READ MORE

  7. 10. Approaches to Pharmacological Treatment and Gene Therapy of Cystic Fibrosis

    Author : Anca Dragomir; Godfried M. Roomans; Robert Dormer; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Anatomy; airway epithelium; colchicine; cystic fibrosis; chloride transport; genotype; heparin; phenotype; transfection; X-ray microanalysis; Anatomi; Anatomy; Anatomi;

    Abstract : Cystic fibrosis (CF) is the most common lethal genetic disease in the white population. It is due to mutations in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR), a protein that functions mainly as a cAMP-activated chloride channel. READ MORE