Search for dissertations about: "PIK3C2G"

Found 2 swedish dissertations containing the word PIK3C2G.

  2. 1. Positional Cloning of Disease Causing Genes : A Genetic Study of Obesity, Ichthyosis Prematurity Syndrome and Meniere's Disease

    Author : Joakim Klar; Niklas Dahl; Catharina Larsson; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Positional cloning; Obesity; Ichthyosis; Meniere’s disease; RORa; PIK3C2G; Genetik; Clinical genetics; Klinisk genetik;

    Abstract : Positional cloning is a method to identify genes from their position in the genome without prior knowledge about function. We used this approach to investigate the basis for three distinct genetic disorders; Obesity, Ichthyosis Prematurity Syndrome and Meniere's disease. READ MORE

  4. 2. Clinical and Genetic Studies of Hearing Impairment

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

    Abstract : 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. READ MORE