Sökning: "Phenotype"

Visar resultat 1 - 5 av 1731 avhandlingar innehållade ordet Phenotype.

  1. 1. Studies of ulcerative colitis with concomitant primary sclerosing cholangitis : Beyond the clinical phenotype

    Författare :Johan Vessby; Marie Carlson; Maria Lampinen; Mikael Åberg; Fredrik Rorsman; Björn Lindkvist; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; IBD; PSC; ulcerative colitis; PSC-UC; immunology; eosinophils; T cells; tissue factor; proteomics; Medicinsk vetenskap; Medical Science;

    Sammanfattning : Inflammatory bowel disease (IBD) is a group of chronically relapsing immune-related disorders, engaging the gastrointestinal tract. Symptoms vary depending on inflammatory phenotype, but may include diarrhoea, bowel pain and weight loss. The two most common entities are Crohn's disease and ulcerative colitis (UC). LÄS MER

  3. 2. Genetic investigations of four neurological disorders : From phenotype to mutation

    Författare :Anna Sillén; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatrics; genetic disease; chromosome; microsatellite; linkage analysis; mutation; Pediatrik; Paediatric medicine; Pediatrisk medicin; klinisk genetik; Clinical Genetics;

    Sammanfattning : More than 5000, more or less rare, genetic diseases are known in man. A genetic disease is in most casesinherited from one generation to the next, and is caused by a change in the genetic code, a mutation. LÄS MER

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

    Författare :Vesna Ponjavic; Lund Oftalmologi; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  5. 4. Clinical expressions of juvenile hereditary retinal degenerations and macular dystrophies: Electrophysiological and genetic studies

    Författare :Louise Eksandh; Lund Oftalmologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Oftalmologi; Ophtalmology; Rod-monochromacy; Stargardt disease; Juvenile X-linked retinoschisis; Spielmeyer-Vogt disease; Best disease; multifocal-ERG; EOG; full-field ERG; Phenotype; genotype;

    Sammanfattning : Hereditary retinal degenerations are the most frequent reason for severe visual handicap among young people in Scandinavia today. In the six papers included in this thesis the phenotypic expressions, with emphasis on the electrophysiological findings, of five different juvenile hereditary retinal degenerations are described. LÄS MER

  7. 5. Osteogenesis Imperfecta : Genetic and Therapeutic Studies

    Författare :Katarina Lindahl; Östen Ljunggren; Andreas Kindmark; Carl-Johan Rubin; David Sillence; Uppsala universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER