Now showing items 1-3 of 3

    • 7p22.1 microduplication syndrome: Refinement of the critical region. 

      Ronzoni, L; Grassi, FS; Pezzani, L; Tucci, A; Baccarin, M; Esposito, S; Milani, D (2017-02)
      7p22.1 microduplication syndrome is mainly characterized by developmental and speech delay, craniofacial dysmorphisms and skeletal abnormalities. The minimal critical region includes two OMIM genes: ACTB and RNF216. Here, ...
    • Melamine Impairs Renal and Vascular Function in Rats. 

      Tian, XY; Wong, WT; Lau, CW; Wang, Y-X; Cheang, WS; Liu, J; Lu, Y; Huang, H; Xia, Y; Chen, ZY (2016-06-21)
      Melamine incident, linked to nephrotoxicity and kidney stone in infants previously exposed to melamine-contaminated milk products, was unprecedentedly grave in China in 2008 as little was known about the mechanistic process ...
    • SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. 

      Li, M; Li, Y; Weeks, O; Mijatovic, V; Teumer, A; Huffman, JE; Tromp, G; Fuchsberger, C; Gorski, M; Lyytikäinen, L-P (2017-03)
      Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations ...