Browsing by Subject "Hearing Loss"

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    • Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis. 

      Malone, Andrew F; Phelan, Paul J; Hall, Gentzon; Cetincelik, Umran; Homstad, Alison; Alonso, Andrea S; Jiang, Ruiji; ... (20 authors) (Kidney Int, 2014-12)
      Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes, including inherited genetic defects, with significant proteinuria being the predominant clinical finding at presentation. Mutations in ...

    • Rare variants create synthetic genome-wide associations. 

      Dickson, Samuel P; Wang, Kai; Krantz, Ian; Hakonarson, Hakon; Goldstein, David B (PLoS Biol, 2010-01-26)
      Genome-wide association studies (GWAS) have now identified at least 2,000 common variants that appear associated with common diseases or related traits (http://www.genome.gov/gwastudies), hundreds of which have been convincingly ...