Search for dissertations about: "Phenotype"

Showing result 1 - 5 of 1450 swedish dissertations containing the word Phenotype.

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

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Anna Sillén; Uppsala universitet.; [1997]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatrics; genetic disease; chromosome; microsatellite; linkage analysis; mutation; Pediatrik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Paediatric medicine; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Pediatrisk medicin; klinisk genetik; Clinical Genetics;

    Abstract : 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. READ MORE

  2. 2. Phenotypes and genotypes in families with hereditary tapetoretinal degenerations

    University dissertation from Ophthalmology (Lund), Lund University

    Author : Vesna Ponjavic; [1997]
    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

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

    University dissertation from Department of Ophthalmology, Lund University

    Author : Louise Eksandh; [2001]
    Keywords : 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;

    Abstract : 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. READ MORE

  4. 4. Osteogenesis Imperfecta Genetic and Therapeutic Studies

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Katarina Lindahl; Uppsala universitet.; [2013]
    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; Medicinsk genetik; Medical Genetics;

    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

  5. 5. A genomic approach to smooth muscle differentiation and diversity

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Sven Nelander; Göteborgs universitet.; Gothenburg University.; [2005]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Keywords: smooth muscle; phenotype; transcriptional regulation; differentiation; transcriptome; microarray; computational prediction; co-expression network; regulatory sequence analysis; gene module; gene battery;

    Abstract : Smooth muscle cells (SMCs) are a broad class of contractile cells that are found in a number of organs systems, including the vasculature, the urogenital system, the bronchi and the gastrointestinal tract. The two main functions exerted by SMCs are to provide contractile force and to synthesize structural components of the extracellular matrix. READ MORE