Search for dissertations about: "genetics short stature"

Found 2 swedish dissertations containing the words genetics short stature.

  2. 1. Clinical and genetic studies of three inherited skeletal disorders

    Author : Eva-Lena Stattin; Göran Roos; Niklas Dahl; Jaakko Ignatius; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; skeletal disorders; osteochondritis dissecans; ACAN-gene; multiple epiphyseal dysplasia; brachydactyly type A1; IHH-gene; Medical genetics; Medicinsk genetik; klinisk genetik; Clinical Genetics;

    Abstract : Mutations in genes of importance for cartilage development may lead to skeletal malformations, chondroskeletal dysfunction and increased susceptibility to degenerative joint disease. Characterization of these mutations and identification of molecular pathways for the corresponding gene products have contributed to our understanding of mechanisms regulating skeletal patterning, endochondral ossification and joint formation. READ MORE

  4. 2. Localization of five human genes by clinical and molecular genetic methods

    Author : Mihailo Vujic; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Larsen syndrome; LRS1; Multiple hereditary exostoses; EXT2; Best macular dystrophy; VMD2; Noonan syndrome; NS3; Tripeptidyl peptidase-2; TPP2;

    Abstract : Four of the research projects reported in this thesis start from the gene effects observed in clinical practice. Finding a disease causing gene is challenging, exciting and beneficial for the patient, the family and for the society. READ MORE