Now showing items 1-3 of 3

    • Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. 

      Young, Terri; Rozen, Steven; Souma, Tomokazu; Tompson, Stuart W; Thomson, Benjamin R; Siggs, Owen M; Kizhatil, Krishnakumar; ... (35 authors) (The Journal of clinical investigation, 2016-07)
      Primary congenital glaucoma (PCG) is a devastating eye disease and an important cause of childhood blindness worldwide. In PCG, defects in the anterior chamber aqueous humor outflow structures of the eye result in elevated ...
    • Angiopoietin-1 is required for Schlemm's canal development in mice and humans. 

      Azmanov, Dimitar N; Bradfield, Yasmin S; Craig, Jamie E; Feng, Liang; Finzi, Simone; Hewitt, Alex W; Javadiyan, Shari; ... (26 authors) (The Journal of clinical investigation, 2017-12)
      Primary congenital glaucoma (PCG) is a leading cause of blindness in children worldwide and is caused by developmental defects in 2 aqueous humor outflow structures, Schlemm's canal (SC) and the trabecular meshwork. We previously ...
    • Detectable clonal mosaicism from birth to old age and its relationship to cancer. 

      Wei, Qingyi; Laurie, Cathy C; Laurie, Cecelia A; Rice, Kenneth; Doheny, Kimberly F; Zelnick, Leila R; McHugh, Caitlin P; ... (73 authors) (Nature genetics, 2012-05-06)
      We detected clonal mosaicism for large chromosomal anomalies (duplications, deletions and uniparental disomy) using SNP microarray data from over 50,000 subjects recruited for genome-wide association studies. This detection ...