Sökning: "Eva-lena Stattin"

Hittade 2 avhandlingar innehållade orden Eva-lena Stattin.

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

    Författare :Eva-Lena Stattin; Göran Roos; Niklas Dahl; Jaakko Ignatius; Umeå universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  3. 2. Familial thoracic aortic aneurysms and dissections : studies on genotype and phenotype

    Författare :Matias Hannuksela; Bo Carlberg; Bengt Johansson; Eva-Lena Stattin; Anders Gottsäter; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Thoracic aorta; familial aortic aneurysm; familial aortic dissection; genetics; aortic stiffness;

    Sammanfattning : Background: Thoracic aortic aneurysms and dissections (TAAD) have a genetic component with an estimated 20-25% of the patients having a positive family history. An aneurysm often precedes a dissection. Acute aortic dissections are associated with high mortality and morbidity, even when operated on. LÄS MER