Sökning: "Lisbeth Tranebjærg"

Hittade 2 avhandlingar innehållade orden Lisbeth Tranebjærg.

  1. 1. Clinical and Genetic Studies of Hearing Impairment

    Författare :Carina Frykholm; Ulla Friberg; Hans-Christian Larsen; Niklas Dahl; Marie-Louise Bondeson; Lisbeth Tranebjaerg; Uppsala universitet; []
    Nyckelord :Otorhinolaryngology; NF2; array-CGH; Meniere’s disease; PIK3C2G; X-linked; progressive; hearing impairment; Otorhinolaryngologi;

    Sammanfattning : Monogenic disorders offer a possibility for studies of genetic disturbances in hearing impairment—a knowledge which could be essential for development of future treatment options. In this thesis, the underlying genetic disturbances in neurofibromatosis 2 (NF2) and familial Meniere’s disease (FMD) were evaluated, and familial X-linked hearing impairment was described from a clinical point of view. LÄS MER

  3. 2. Familial amyloidosis with polyneuropathy : studies of genetic factors modifying the phenotype of the disease

    Författare :Malin Olsson; Ole B Suhr; Lisbeth Tranebjærg; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Familial amyloid polyneuropathy; Amyloidosis; Transthyretin; Allele Frequency; Mitochondria; parent-of-origin; MicroRNA; Single Nucleotide Polymorphism; 3 Untranslated Regions genetics; Medical genetics; Medicinsk genetik; Clinical genetics; Klinisk genetik; genetik; Genetics; klinisk genetik; Clinical Genetics; medicin; Medicine;

    Sammanfattning : Background. Familial Amyloidosis with Polyneuropathy (FAP) is an autosomal dominantly inherited systemic amyloid disease. The disease is caused by mutations in the transthyretin (TTR) gene, where close to 100 different amyloidogenic mutations have been identified. LÄS MER