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Journal Abstract Search

213 related items for PubMed ID: 27117808

  • 1. A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2.
    Hinrichs GR, Hansen LH, Nielsen MR, Fagerberg C, Dieperink H, Rittig S, Jensen BL.
    Physiol Rep; 2016 Apr; 4(8):. PubMed ID: 27117808
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  • 2. [Vasopressin V2 receptor-related pathologies: congenital nephrogenic diabetes insipidus and nephrogenic syndrome of inappropiate antidiuresis].
    Morin D.
    Nephrol Ther; 2014 Dec; 10(7):538-46. PubMed ID: 25449762
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  • 3. Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.
    Vargas-Poussou R, Forestier L, Dautzenberg MD, Niaudet P, Déchaux M, Antignac C.
    J Am Soc Nephrol; 1997 Dec; 8(12):1855-62. PubMed ID: 9402087
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  • 5. 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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  • 11. Nephrogenic diabetes insipidus.
    Bichet DG.
    Adv Chronic Kidney Dis; 2006 Apr; 13(2):96-104. PubMed ID: 16580609
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  • 14. A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus.
    Çelebi Tayfur A, Karaduman T, Özcan Türkmen M, Şahin D, Çaltık Yılmaz A, Büyükkaragöz B, Buluş AD, Mergen H.
    J Clin Res Pediatr Endocrinol; 2018 Nov 29; 10(4):350-356. PubMed ID: 29991464
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  • 15. A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.
    Schernthaner-Reiter MH, Adams D, Trivellin G, Ramnitz MS, Raygada M, Golas G, Faucz FR, Nilsson O, Nella AA, Dileepan K, Lodish M, Lee P, Tifft C, Markello T, Gahl W, Stratakis CA.
    Eur J Pediatr; 2016 May 29; 175(5):727-33. PubMed ID: 26795631
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  • 16. Vasopressin type-2 receptor and aquaporin-2 water channel mutants in nephrogenic diabetes insipidus.
    Deen PM, Knoers NV.
    Am J Med Sci; 1998 Nov 29; 316(5):300-9. PubMed ID: 9822112
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  • 17. 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 Nov 29; 10(3):157-62. PubMed ID: 17020465
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  • 18. A novel missense mutation in the AVPR2 gene of a Japanese infant with nephrogenic diabetes insipidus.
    Takatani T, Matsuo K, Kinoshita K, Takatani R, Minagawa M, Kohno Y.
    J Pediatr Endocrinol Metab; 2010 Apr 29; 23(4):415-8. PubMed ID: 20583549
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  • 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 29; 68(3):395-403. PubMed ID: 17941907
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  • 20. 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 29; 61(7):922-30. PubMed ID: 22386940
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