Browsing Clinical Medicine (Scholarly Publications) by Subject "Genetic"

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  • Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland. 

    Little, Mark; Cormican, S.; Connaughton, D.M.; Kennedy, C.; Murray, S.; Živná, M.; Kmoch, S.; Fennelly, N.K.; O'Kelly, P.; Benson, K.A.; Conlon, E.T.; Cavalleri, G.; Foley, C.; Doyle, B.; Dorman, A.; Lavin, P.; Kidd, K.; Bleyer, A.J.; Conlon, P.J. (2019)
    Introduction: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare genetic cause of renal impairment resulting from mutations in the MUC1, UMOD, HNF1B, REN, and SEC61A1 genes. Neither the national or ...

  • TNXB mutations can cause vesicoureteral reflux. 

    LAVIN, PETER (2013)
    Primary vesicoureteral reflux (VUR) is the most common congenital anomaly of the kidney and the urinary tract, and it is a major risk factor for pyelonephritic scarring and CKD in children. Although twin studies support ...