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Journal Abstract Search

325 related items for PubMed ID: 17020465

  • 1. 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; 10(3):157-62. PubMed ID: 17020465
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  • 3. 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; 61(7):922-30. PubMed ID: 22386940
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  • 7. 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; 85(4):1703-10. PubMed ID: 10770218
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  • 8. 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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  • 10. AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
    Spanakis E, Milord E, Gragnoli C.
    J Cell Physiol; 2008 Dec; 217(3):605-17. PubMed ID: 18726898
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  • 13. Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).
    Bichet DG, Bockenhauer D.
    Best Pract Res Clin Endocrinol Metab; 2016 Mar; 30(2):263-76. PubMed ID: 27156763
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  • 14. 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
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  • 17. 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 Apr; 14(3):233-9. PubMed ID: 10477431
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  • 19. Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families.
    Sahakitrungruang T, Tee MK, Rattanachartnarong N, Shotelersuk V, Suphapeetiporn K, Miller WL.
    Horm Res Paediatr; 2010 Apr; 73(5):349-54. PubMed ID: 20389105
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