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Journal Abstract Search

377 related items for PubMed ID: 22386940

  • 1. 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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  • 2. 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; 68(3):395-403. PubMed ID: 17941907
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  • 3. 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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  • 4. Vasopressin receptor mutations causing nephrogenic diabetes insipidus.
    Bichet DG, Turner M, Morin D.
    Proc Assoc Am Physicians; 1998 Dec; 110(5):387-94. PubMed ID: 9756088
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  • 5. [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
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  • 6. 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 Oct 25; 73(5):349-54. PubMed ID: 20389105
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  • 7. 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 25; 175(5):727-33. PubMed ID: 26795631
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  • 8. 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 25; 27(4):1521-8. PubMed ID: 21917732
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  • 10. Vasopressin type 2 receptor V88M mutation: molecular basis of partial and complete nephrogenic diabetes insipidus.
    Bockenhauer D, Carpentier E, Rochdi D, van't Hoff W, Breton B, Bernier V, Bouvier M, Bichet DG.
    Nephron Physiol; 2010 Apr 25; 114(1):p1-10. PubMed ID: 19816050
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  • 14. V2R mutations and nephrogenic diabetes insipidus.
    Bichet DG.
    Prog Mol Biol Transl Sci; 2009 Apr 25; 89():15-29. PubMed ID: 20374732
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  • 15. 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 Apr 25; 10(3):157-62. PubMed ID: 17020465
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  • 16. 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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  • 20. 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 29; 30(2):263-76. PubMed ID: 27156763
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