Search for dissertations about: "osteogenesis imperfecta"

Showing result 1 - 5 of 6 swedish dissertations containing the words osteogenesis imperfecta.

  2. 1. 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

  4. 2. Living with osteogenesis imperfecta

    Author : Veronica Balkefors; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Osteogenesis Imperfecta (OI) is a hereditary connective tissue disorder with fragility of the bones as the dominant symptom. There is no cure for OI, but symptoms are treated with medical, orthopaedic and physiotherapy methods. The disease group is very heterogeneous and knowledge about adults living with the milder forms, type I or IV is limited. READ MORE

  5. 3. Clinical, histopathologic and genetic diagnosis in osteogenesis imperfecta and dentinogenesis imperfecta

    Author : Barbro Malmgren; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Agenesis; DSPP gene; histopathology; impaction; inherited disorders; teeth;

    Abstract : The aims of this thesis were to investigate (1) dental aberrations in a large sample of unrelated patients with different types and forms of OI, (2) degree of dentin dysplasia in relation to type and form of OI and clinical, radiographic, and microscopic manifestations and type of DI, and (3) genotypes and phenotypes in two families with DI type II with special reference to clinical, radiographic, and histopathologic manifestations. In study I, morphological and clinical variation in the expression of DI within one family was described. READ MORE

  6. 4. Prevalence of dentinogenesis imperfecta and dental aberrations related to genetic findings in osteogenesis imperfecta

    Author : Kristofer Andersson; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous connective tissue disorder, mainly caused by mutations in COL1A1 and COL1A2, the genes encoding collagen type I. The cardinal symptoms include bone fragility and varying degrees of growth retardation. READ MORE

  7. 5. Bisphosphonate treatment of children and adolescents with osteogenesis imperfecta : effects on clinical symptoms and bone turnover

    Author : Eva Åström; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Background: Osteogenesis imperfecta (OI) is a group of genetic diseases with a wide spectrum of severity, ranging from very mild bone fragility to lethal forms. Without treatment the more severe forms have multiple fractures leading to progressive bone deformities with extreme shortness, frequent skeletal pain and immobilisation. READ MORE