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Journal Abstract Search

348 related items for PubMed ID: 7922301

  • 21. Hereditary hypophosphatemic rickets with hypercalciuria: case report.
    Areses-Trapote R, López-García JA, Ubetagoyena-Arrieta M, Eizaguirre A, Sáez-Villaverde R.
    Nefrologia; 2012 Jul 17; 32(4):529-34. PubMed ID: 22806288
    [Abstract] [Full Text] [Related]

  • 22. Renal failure in adult onset hypophosphatemic osteomalacia with Fanconi syndrome: a family study and review of the literature.
    Harrison NA, Bateman JM, Ledingham JG, Smith R.
    Clin Nephrol; 1991 Apr 17; 35(4):148-50. PubMed ID: 1649711
    [Abstract] [Full Text] [Related]

  • 23. Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome.
    Vilasi A, Cutillas PR, Maher AD, Zirah SF, Capasso G, Norden AW, Holmes E, Nicholson JK, Unwin RJ.
    Am J Physiol Renal Physiol; 2007 Aug 17; 293(2):F456-67. PubMed ID: 17494094
    [Abstract] [Full Text] [Related]

  • 24. 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]

  • 25. 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 31; 3(11):2053-9. PubMed ID: 7874126
    [Abstract] [Full Text] [Related]

  • 26. Can we generate new hypotheses about Dent's disease from gene analysis of a mouse model?
    Guggino SE.
    Exp Physiol; 2009 Feb 31; 94(2):191-6. PubMed ID: 18931044
    [Abstract] [Full Text] [Related]

  • 27. 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 31; 159(Pt 2):212-7. PubMed ID: 15615095
    [Abstract] [Full Text] [Related]

  • 28. Familial hypomagnesemia-hypercalciuria in 2 siblings.
    Kuwertz-Bröking E, Fründ S, Bulla M, Kleta R, August C, Kisters K.
    Clin Nephrol; 2001 Aug 31; 56(2):155-61. PubMed ID: 11522093
    [Abstract] [Full Text] [Related]

  • 29. [Dent's syndrome. Nephrology follow-up of four patients of the same family].
    Coulibaly G, Babinet F, Champion G.
    Nephrol Ther; 2012 Apr 31; 8(2):92-5. PubMed ID: 21955393
    [Abstract] [Full Text] [Related]

  • 30. 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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  • 32. Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.
    Igarashi T, Günther W, Sekine T, Inatomi J, Shiraga H, Takahashi S, Suzuki J, Tsuru N, Yanagihara T, Shimazu M, Jentsch TJ, Thakker RV.
    Kidney Int; 1998 Dec 31; 54(6):1850-6. PubMed ID: 9853249
    [Abstract] [Full Text] [Related]

  • 33. Autosomal dominant Fanconi syndrome with early renal failure.
    Friedman AL, Trygstad CW, Chesney RW.
    Am J Med Genet; 1978 Dec 31; 2(3):225-32. PubMed ID: 263440
    [Abstract] [Full Text] [Related]

  • 34. Nephrocalcinosis in siblings--familial hypomagnesemia, hypercalciuria with nephrocalcinosis (FHHNC syndrome).
    Prabahar MR, Manorajan R, Fernando ME, Venkatraman R, Balaraman V, Jayakumar M.
    J Assoc Physicians India; 2006 Jun 31; 54():497-500. PubMed ID: 16909703
    [Abstract] [Full Text] [Related]

  • 35.
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  • 36. 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]

  • 37. [Familial form of idiopathic hypercalciuria with nanism, bone and renal involvement in children].
    Tieder M, Stark H.
    Helv Paediatr Acta; 1979 Sep 01; 34(4):359-67. PubMed ID: 521301
    [Abstract] [Full Text] [Related]

  • 38. A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.
    Mollataheri A, Mojbafan M, Hosseini R, Houman N, Mousavi M, Otoukesh H.
    Nephron; 2023 Sep 01; 147(8):470-477. PubMed ID: 36646056
    [Abstract] [Full Text] [Related]

  • 39. Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases.
    Norden AG, Scheinman SJ, Deschodt-Lanckman MM, Lapsley M, Nortier JL, Thakker RV, Unwin RJ, Wrong O.
    Kidney Int; 2000 Jan 01; 57(1):240-9. PubMed ID: 10620205
    [Abstract] [Full Text] [Related]

  • 40. Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.
    Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, Bergwitz C, Mounien L, Boepple P, Thorens B, Zelikovic I, Jüppner H.
    J Clin Endocrinol Metab; 2012 Oct 01; 97(10):E1978-86. PubMed ID: 22865906
    [Abstract] [Full Text] [Related]

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