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248 related items for PubMed ID: 16822791

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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]

  • 5. 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 May; 112(4):c262-7. PubMed ID: 19546586
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8. Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.
    Thakker RV.
    Kidney Int; 2000 Mar 01; 57(3):787-93. PubMed ID: 10720930
    [Abstract] [Full Text] [Related]

  • 9. [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 Mar 01; 20(6):578-88. PubMed ID: 14732909
    [Abstract] [Full Text] [Related]

  • 10. Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease.
    Carballo-Trujillo I, Garcia-Nieto V, Moya-Angeler FJ, Antón-Gamero M, Loris C, Méndez-Alvarez S, Claverie-Martin F.
    Nephrol Dial Transplant; 2003 Apr 01; 18(4):717-23. PubMed ID: 12637640
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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]

  • 13. 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 Feb 01; 26(3):176-84. PubMed ID: 12886045
    [Abstract] [Full Text] [Related]

  • 14. Chloride channels and endocytosis: new insights from Dent's disease and CLC-5 knockout mice.
    Devuyst O.
    Bull Mem Acad R Med Belg; 2004 Feb 01; 159(Pt 2):212-7. PubMed ID: 15615095
    [Abstract] [Full Text] [Related]

  • 15. CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis.
    Hoopes RR, Hueber PA, Reid RJ, Braden GL, Goodyer PR, Melnyk AR, Midgley JP, Moel DI, Neu AM, VanWhy SK, Scheinman SJ.
    Kidney Int; 1998 Sep 01; 54(3):698-705. PubMed ID: 9734595
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 31; 68(6):367-72. PubMed ID: 18184518
    [Abstract] [Full Text] [Related]

  • 18. Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuria.
    Scheinman SJ, Cox JP, Lloyd SE, Pearce SH, Salenger PV, Hoopes RR, Bushinsky DA, Wrong O, Asplin JR, Langman CB, Norden AG, Thakker RV.
    Kidney Int; 2000 Jan 31; 57(1):232-9. PubMed ID: 10620204
    [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 31; 24(10):1967-73. PubMed ID: 19582483
    [Abstract] [Full Text] [Related]

  • 20. 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 31; 61(4):231-7. PubMed ID: 15125028
    [Abstract] [Full Text] [Related]

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