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Journal Abstract Search

182 related items for PubMed ID: 30784238

  • 1. Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report.
    Peces R, Mena R, Peces C, Santos-Simarro F, Fernández L, Afonso S, Lapunzina P, Selgas R, Nevado J.
    Mol Genet Genomic Med; 2019 Apr; 7(4):e00568. PubMed ID: 30784238
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Nephrogenic diabetes insipidus.
    Bichet DG.
    Adv Chronic Kidney Dis; 2006 Apr 26; 13(2):96-104. PubMed ID: 16580609
    [Abstract] [Full Text] [Related]

  • 5. 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 Apr 26; 56(7):905-10. PubMed ID: 19461158
    [Abstract] [Full Text] [Related]

  • 6. Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2.
    Sasaki S, Chiga M, Kikuchi E, Rai T, Uchida S.
    Clin Exp Nephrol; 2013 Jun 26; 17(3):338-44. PubMed ID: 23150186
    [Abstract] [Full Text] [Related]

  • 7. Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.
    Cheong HI, Cho SJ, Zheng SH, Cho HY, Ha IS, Choi Y.
    J Korean Med Sci; 2005 Dec 26; 20(6):1076-8. PubMed ID: 16361827
    [Abstract] [Full Text] [Related]

  • 8. Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.
    García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Chocron S, Madrid A, Lafita Tejedor FJ, Gil Campos M, Sánchez Del Pozo J, Ruiz Cano R, Espino M, Gomez Vida JM, Santos F, García Nieto VM, Loza R, Rodríguez LM, Hidalgo Barquero E, Printza N, Camacho JA, Castaño L, Ariceta G, RenalTube Group.
    Eur J Pediatr; 2015 Oct 26; 174(10):1373-85. PubMed ID: 25902753
    [Abstract] [Full Text] [Related]

  • 9. A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.
    Ding C, Beetz R, Rittner G, Bartsch O.
    Am J Med Genet A; 2020 May 26; 182(5):1032-1040. PubMed ID: 32073219
    [Abstract] [Full Text] [Related]

  • 10. 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 26; 8(12):1855-62. PubMed ID: 9402087
    [Abstract] [Full Text] [Related]

  • 11. Physiopathology and diagnosis of nephrogenic diabetes insipidus.
    Devuyst O.
    Ann Endocrinol (Paris); 2012 Apr 26; 73(2):128-9. PubMed ID: 22503803
    [Abstract] [Full Text] [Related]

  • 12. Novel AQP2 Mutations and Clinical Characteristics in Seven Chinese Families With Congenital Nephrogenic Diabetes Insipidus.
    Li Q, Tian D, Cen J, Duan L, Xia W.
    Front Endocrinol (Lausanne); 2021 Apr 26; 12():686818. PubMed ID: 34177810
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. A Rare Case of Congenital Nephrogenic Diabetes Insipidus Associated with Aquaporin 2 Gene Mutation and Subsequent Acute Lymphoblastic Leukemia: Impact of Steroids on Kidney Function.
    Al-Thiabat H, Abu-Aqoulah A, Kanaan D, Matalka MI, Al-Sweedan S.
    Am J Case Rep; 2024 May 21; 25():e943597. PubMed ID: 38769718
    [Abstract] [Full Text] [Related]

  • 15. Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.
    Marr N, Bichet DG, Hoefs S, Savelkoul PJ, Konings IB, De Mattia F, Graat MP, Arthus MF, Lonergan M, Fujiwara TM, Knoers NV, Landau D, Balfe WJ, Oksche A, Rosenthal W, Müller D, Van Os CH, Deen PM.
    J Am Soc Nephrol; 2002 Sep 21; 13(9):2267-77. PubMed ID: 12191971
    [Abstract] [Full Text] [Related]

  • 16. 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 21; 2022():7073158. PubMed ID: 35865667
    [Abstract] [Full Text] [Related]

  • 17. [Clinical and laboratory characteristics of arginine vasopressin resistance, caused by a new homozygous mutation p.R113C in AQP2].
    Makretskaya NA, Nanzanova US, Hamaganova IR, Eremina ER, Tiulpakov AN.
    Probl Endokrinol (Mosk); 2023 May 12; 69(2):75-79. PubMed ID: 37448274
    [Abstract] [Full Text] [Related]

  • 18. 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 12; 33(2):210-4. PubMed ID: 18473191
    [Abstract] [Full Text] [Related]

  • 19. Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update.
    Milano S, Carmosino M, Gerbino A, Svelto M, Procino G.
    Int J Mol Sci; 2017 Nov 10; 18(11):. PubMed ID: 29125546
    [Abstract] [Full Text] [Related]

  • 20. V2R mutations and nephrogenic diabetes insipidus.
    Bichet DG.
    Prog Mol Biol Transl Sci; 2009 Nov 10; 89():15-29. PubMed ID: 20374732
    [Abstract] [Full Text] [Related]

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