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174 related items for PubMed ID: 8111383

  • 1. Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.
    Pook MA, Wrong O, Wooding C, Norden AG, Feest TG, Thakker RV.
    Hum Mol Genet; 1993 Dec; 2(12):2129-34. PubMed ID: 8111383
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  • 2. 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
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  • 3. Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis).
    Fisher SE, Black GC, Lloyd SE, Hatchwell E, Wrong O, Thakker RV, Craig IW.
    Hum Mol Genet; 1994 Nov; 3(11):2053-9. PubMed ID: 7874126
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  • 4. Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.
    Scheinman SJ, Pook MA, Wooding C, Pang JT, Frymoyer PA, Thakker RV.
    J Clin Invest; 1993 Jun; 91(6):2351-7. PubMed ID: 8099916
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  • 5. Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance.
    Wrong OM, Norden AG, Feest TG.
    QJM; 1994 Aug; 87(8):473-93. PubMed ID: 7922301
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  • 8. 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
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  • 10. Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa.
    Coleman M, Bhattacharya S, Lindsay S, Wright A, Jay M, Litt M, Craig I, Davies K.
    Am J Hum Genet; 1990 Dec; 47(6):935-40. PubMed ID: 2239970
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  • 11. 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
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  • 12. [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 Apr; 20(6):578-88. PubMed ID: 14732909
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  • 13. Hypercalciuria and nephrocalcinosis in patients with idiopathic low-molecular-weight proteinuria in Japan: is the disease identical to Dent's disease in United Kingdom?
    Igarashi T, Hayakawa H, Shiraga H, Kawato H, Yan K, Kawaguchi H, Yamanaka T, Tsuchida S, Akagi K.
    Nephron; 1995 Apr; 69(3):242-7. PubMed ID: 7753256
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  • 14. Linkage of Wiskott-Aldrich syndrome with three marker loci, DXS426, SYP and TFE3, which map to the Xp11.3-p11.22 region.
    Cremin SM, Greer WL, Bodok-Nutzati R, Schwartz M, Peacocke M, Siminovitch KA.
    Hum Genet; 1993 Oct 01; 92(3):250-3. PubMed ID: 8104859
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  • 15. 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 01; 61(4):231-7. PubMed ID: 15125028
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  • 16. [A rare tubulopathy: Dent's disease in the background of focal segmental glomerular sclerosis].
    Jakab D, Maróti Z, Iványi B, Bereczki C, Kalmár T.
    Orv Hetil; 2023 May 21; 164(20):788-791. PubMed ID: 37210717
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  • 17. Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis.
    Wang SS, Devuyst O, Courtoy PJ, Wang XT, Wang H, Wang Y, Thakker RV, Guggino S, Guggino WB.
    Hum Mol Genet; 2000 Dec 12; 9(20):2937-45. PubMed ID: 11115837
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  • 20. 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 Dec 12; 26(3):176-84. PubMed ID: 12886045
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