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Journal Abstract Search

376 related items for PubMed ID: 11916004

  • 1. Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.
    Chen CH, Chen WY, Liu HL, Liu TT, Tsou AP, Lin CY, Chao T, Qi Y, Hsiao KJ.
    J Hum Genet; 2002; 47(2):66-73. PubMed ID: 11916004
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  • 3. Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus.
    Böselt I, Tramma D, Kalamitsou S, Niemeyer T, Nykänen P, Gräf KJ, Krude H, Marenzi KS, Di Candia S, Schöneberg T, Schulz A.
    Nephrol Dial Transplant; 2012 Apr; 27(4):1521-8. PubMed ID: 21917732
    [Abstract] [Full Text] [Related]

  • 4. V2R mutations and nephrogenic diabetes insipidus.
    Bichet DG.
    Prog Mol Biol Transl Sci; 2009 Apr; 89():15-29. PubMed ID: 20374732
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  • 6. [Identification of mutations in the arginine vasopressin receptor 2 gene in congenital nephrogenic diabetes insipidus patients].
    Gu F, Shi Y, Deng J, Jin Z.
    Zhonghua Yi Xue Za Zhi; 2002 Oct 25; 82(20):1401-5. PubMed ID: 12509923
    [Abstract] [Full Text] [Related]

  • 7. Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.
    Neocleous V, Skordis N, Shammas C, Efstathiou E, Mastroyiannopoulos NP, Phylactou LA.
    Metabolism; 2012 Jul 25; 61(7):922-30. PubMed ID: 22386940
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  • 8. AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
    Spanakis E, Milord E, Gragnoli C.
    J Cell Physiol; 2008 Dec 25; 217(3):605-17. PubMed ID: 18726898
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  • 9. [Pathological aspects of water transport in the collecting ducts].
    Bichet DG.
    Nephrologie; 1996 Dec 25; 17(7):417-22. PubMed ID: 9019668
    [Abstract] [Full Text] [Related]

  • 10. Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.
    Tsukaguchi H, Matsubara H, Taketani S, Mori Y, Seido T, Inada M.
    J Clin Invest; 1995 Oct 25; 96(4):2043-50. PubMed ID: 7560098
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  • 11. Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus.
    Rocha JL, Friedman E, Boson W, Moreira A, Figueiredo B, Liberman B, de Lacerda L, Sandrini R, Graf H, Martins S, Puñales MK, De Marco L.
    Hum Mutat; 1999 Oct 25; 14(3):233-9. PubMed ID: 10477431
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  • 12. Vasopressin receptor mutations in nephrogenic diabetes insipidus.
    Bichet DG.
    Semin Nephrol; 2008 May 25; 28(3):245-51. PubMed ID: 18519085
    [Abstract] [Full Text] [Related]

  • 13. C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus. Mutations in brief no. 165. Online.
    Szalai C, Triga D, Czinner A.
    Hum Mutat; 1998 May 25; 12(2):137-8. PubMed ID: 10694923
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  • 14. Mutations in the vasopressin V2 receptor gene in families with nephrogenic diabetes insipidus and functional expression of the Q-2 mutant.
    Rosenthal W, Seibold A, Antaramian A, Gilbert S, Birnbaumer M, Bichet DG, Arthus MF, Lonergan M.
    Cell Mol Biol (Noisy-le-grand); 1994 May 25; 40(3):429-36. PubMed ID: 7920187
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  • 15. Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus.
    Tsukaguchi H, Matsubara H, Aritaki S, Kimura T, Abe S, Inada M.
    Biochem Biophys Res Commun; 1993 Dec 15; 197(2):1000-10. PubMed ID: 8267567
    [Abstract] [Full Text] [Related]

  • 16. Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients.
    Boson WL, Della Manna T, Damiani D, Miranda DM, Gadelha MR, Liberman B, Correa H, Romano-Silva MA, Friedman E, Silva FF, Ribeiro PA, De Marco L.
    Genet Test; 2006 Dec 15; 10(3):157-62. PubMed ID: 17020465
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  • 17. Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.
    Pasel K, Schulz A, Timmermann K, Linnemann K, Hoeltzenbein M, Jääskeläinen J, Grüters A, Filler G, Schöneberg T.
    J Clin Endocrinol Metab; 2000 Apr 15; 85(4):1703-10. PubMed ID: 10770218
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  • 18. V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.
    Schöneberg T, Schulz A, Biebermann H, Grüters A, Grimm T, Hübschmann K, Filler G, Gudermann T, Schultz G.
    Hum Mutat; 1998 Apr 15; 12(3):196-205. PubMed ID: 9711877
    [Abstract] [Full Text] [Related]

  • 19. Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene.
    Faerch M, Christensen JH, Corydon TJ, Kamperis K, de Zegher F, Gregersen N, Robertson GL, Rittig S.
    Clin Endocrinol (Oxf); 2008 Mar 15; 68(3):395-403. PubMed ID: 17941907
    [Abstract] [Full Text] [Related]

  • 20. Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.
    Pan Y, Metzenberg A, Das S, Jing B, Gitschier J.
    Nat Genet; 1992 Oct 15; 2(2):103-6. PubMed ID: 1303257
    [Abstract] [Full Text] [Related]

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