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Journal Abstract Search

178 related items for PubMed ID: 18473191

  • 1. Identification of two novel aquaporin-2 mutations in a Thai girl with congenital nephrogenic diabetes insipidus.
    Sahakitrungruang T, Wacharasindhu S, Sinthuwiwat T, Supornsilchai V, Suphapeetiporn K, Shotelersuk V.
    Endocrine; 2008 Apr; 33(2):210-4. PubMed ID: 18473191
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  • 3. Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy.
    Rugpolmuang R, Deeb A, Hassan Y, Deekajorndech T, Shotelersuk V, Sahakitrungruang T.
    J Pediatr Endocrinol Metab; 2014 Jan; 27(1-2):193-7. PubMed ID: 23950570
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  • 7. Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus.
    Iolascon A, Aglio V, Tamma G, D'Apolito M, Addabbo F, Procino G, Simonetti MC, Montini G, Gesualdo L, Debler EW, Svelto M, Valenti G.
    Nephron Physiol; 2007 Jan; 105(3):p33-41. PubMed ID: 17192724
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  • 11. Nephrogenic diabetes insipidus in a 15-year-old Hispanic female with a novel AQP2 mutation.
    Long BC, Weber ZJ, Oberlin JM, Sutter DE, Berg JM.
    J Pediatr Endocrinol Metab; 2019 Sep 25; 32(9):1031-1034. PubMed ID: 31348762
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  • 13. Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response.
    Canfield MC, Tamarappoo BK, Moses AM, Verkman AS, Holtzman EJ.
    Hum Mol Genet; 1997 Oct 25; 6(11):1865-71. PubMed ID: 9302264
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  • 14. 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 25; 8(12):1855-62. PubMed ID: 9402087
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  • 15. AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
    Gao C, Higgins PJ, Zhang W.
    Cells; 2020 Sep 26; 9(10):. PubMed ID: 32993088
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  • 16. Novel mutation of aquaporin-2 gene in a patient with congenital nephrogenic diabetes insipidus.
    Moon SS, Kim HJ, Choi YK, Seo HA, Jeon JH, Lee JE, Lee JY, Kwon TH, Kim JG, Kim BW, Lee IK.
    Endocr J; 2009 Sep 26; 56(7):905-10. PubMed ID: 19461158
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  • 17. A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a Chinese Family with Congenital Nephrogenic Diabetes Insipidus: X-Chromosome Inactivation in Female CNDI Patients with Heterozygote 814A>G Mutation.
    Zang L, Gong Y, Li Y, Dou J, Lyu Z, Su X, Zhang Y, Mu Y.
    Biomed Res Int; 2022 Sep 26; 2022():7073158. PubMed ID: 35865667
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