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316 related items for PubMed ID: 19076289

  • 1. Phenotype and genotype of Dent's disease in three Chinese boys.
    Li P, Huang JP.
    Nephrology (Carlton); 2009 Apr; 14(2):139-42. PubMed ID: 19076289
    [Abstract] [Full Text] [Related]

  • 2. Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study.
    Tosetto E, Ghiggeri GM, Emma F, Barbano G, Carrea A, Vezzoli G, Torregrossa R, Cara M, Ripanti G, Ammenti A, Peruzzi L, Murer L, Ratsch IM, Citron L, Gambaro G, D'angelo A, Anglani F.
    Nephrol Dial Transplant; 2006 Sep; 21(9):2452-63. PubMed ID: 16822791
    [Abstract] [Full Text] [Related]

  • 3. Truncating mutations in the chloride/proton ClC-5 antiporter gene in Seven Jewish Israeli families with Dent's 1 disease.
    Dinour D, Davidovitz M, Levin-Iaina N, Lotan D, Cleper R, Weissman I, Knecht A, Holtzman EJ.
    Nephron Clin Pract; 2009 Sep; 112(4):c262-7. PubMed ID: 19546586
    [Abstract] [Full Text] [Related]

  • 4. Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease.
    Igarashi T, Inatomi J, Ohara T, Kuwahara T, Shimadzu M, Thakker RV.
    Kidney Int; 2000 Aug; 58(2):520-7. PubMed ID: 10916075
    [Abstract] [Full Text] [Related]

  • 5. Renal chloride channel, CLCN5, mutations in Dent's disease.
    Cox JP, Yamamoto K, Christie PT, Wooding C, Feest T, Flinter FA, Goodyer PR, Leumann E, Neuhaus T, Reid C, Williams PF, Wrong O, Thakker RV.
    J Bone Miner Res; 1999 Sep; 14(9):1536-42. PubMed ID: 10469281
    [Abstract] [Full Text] [Related]

  • 6. Evidence for genetic heterogeneity in Dent's disease.
    Hoopes RR, Raja KM, Koich A, Hueber P, Reid R, Knohl SJ, Scheinman SJ.
    Kidney Int; 2004 May; 65(5):1615-20. PubMed ID: 15086899
    [Abstract] [Full Text] [Related]

  • 7. [Clinical and genetic analysis of Dent' s disease in 6 Chinese children with low molecular weight proteinuria].
    Zhu BZ, Li P, Huang JP.
    Zhonghua Er Ke Za Zhi; 2010 May; 48(5):329-33. PubMed ID: 20654030
    [Abstract] [Full Text] [Related]

  • 8. Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.
    Thakker RV.
    Kidney Int; 2000 Mar; 57(3):787-93. PubMed ID: 10720930
    [Abstract] [Full Text] [Related]

  • 9. Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant.
    Ludwig M, Waldegger S, Nuutinen M, Bökenkamp A, Reissinger A, Steckelbroeck S, Utsch B.
    Kidney Blood Press Res; 2003 Mar; 26(3):176-84. PubMed ID: 12886045
    [Abstract] [Full Text] [Related]

  • 10. Molecular and clinical studies of Dent's disease in Japan: biochemical examination and renal ultrasonography do not predict carrier state.
    Matsuyama T, Awazu M, Oikawa T, Inatomi J, Sekine T, Igarashi T.
    Clin Nephrol; 2004 Apr; 61(4):231-7. PubMed ID: 15125028
    [Abstract] [Full Text] [Related]

  • 11. Molecular analysis of the CLCN5 gene in Dent's disease: first mutation identified in a patient from South America.
    Ramos-Trujillo E, Garcia-Nieto V, Gonzalez-Acosta H, Vara J, Pérez-Diaz V, Nadal I, Oliveros R, Claverie-Martin F.
    Clin Nephrol; 2007 Dec; 68(6):367-72. PubMed ID: 18184518
    [Abstract] [Full Text] [Related]

  • 12. Dent's disease.
    Devuyst O, Thakker RV.
    Orphanet J Rare Dis; 2010 Oct 14; 5():28. PubMed ID: 20946626
    [Abstract] [Full Text] [Related]

  • 13. [Dent's disease: hereditary nephrolithiasis related to defective tubular endocytosis processes].
    Tosetto E, Anglani F, Graziotto R, Citron L, D'Angelo A, Gambaro G.
    G Ital Nefrol; 2003 Oct 14; 20(6):578-88. PubMed ID: 14732909
    [Abstract] [Full Text] [Related]

  • 14. Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).
    Lloyd SE, Pearce SH, Günther W, Kawaguchi H, Igarashi T, Jentsch TJ, Thakker RV.
    J Clin Invest; 1997 Mar 01; 99(5):967-74. PubMed ID: 9062355
    [Abstract] [Full Text] [Related]

  • 15. Can we generate new hypotheses about Dent's disease from gene analysis of a mouse model?
    Guggino SE.
    Exp Physiol; 2009 Feb 01; 94(2):191-6. PubMed ID: 18931044
    [Abstract] [Full Text] [Related]

  • 16. The ClC-5 chloride channel knock-out mouse - an animal model for Dent's disease.
    Günther W, Piwon N, Jentsch TJ.
    Pflugers Arch; 2003 Jan 01; 445(4):456-62. PubMed ID: 12548389
    [Abstract] [Full Text] [Related]

  • 17. A novel CLCN5 mutation in a Chinese boy with Dent's disease.
    Ji LN, Chen CY, Wang JJ, Cao L.
    World J Pediatr; 2014 Aug 01; 10(3):275-7. PubMed ID: 25124980
    [Abstract] [Full Text] [Related]

  • 18. A common molecular basis for three inherited kidney stone diseases.
    Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV.
    Nature; 1996 Feb 01; 379(6564):445-9. PubMed ID: 8559248
    [Abstract] [Full Text] [Related]

  • 19. Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.
    Tosetto E, Addis M, Caridi G, Meloni C, Emma F, Vergine G, Stringini G, Papalia T, Barbano G, Ghiggeri GM, Ruggeri L, Miglietti N, D Angelo A, Melis MA, Anglani F.
    Pediatr Nephrol; 2009 Oct 01; 24(10):1967-73. PubMed ID: 19582483
    [Abstract] [Full Text] [Related]

  • 20. Clinical and genetic characteristics of Dent's disease type 1 in Europe.
    Burballa C, Cantero-Recasens G, Prikhodina L, Lugani F, Schlingmann K, Ananin PV, Besouw M, Bockenhauer D, Madariaga L, Bertholet-Thomas A, Taroni F, Parolin M, Conlon P, Emma F, Del Prete D, Chauveau D, Koster-Kamphuis L, Fila M, Pasini A, Castro I, Colussi G, Gil M, Mohidin B, Wlodkowski T, Schaefer F, Ariceta G, DENT study group.
    Nephrol Dial Transplant; 2023 May 31; 38(6):1497-1507. PubMed ID: 36441012
    [Abstract] [Full Text] [Related]

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