These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

148 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
    [Abstract] [Full Text] [Related]

  • 2. 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; 20(6):1076-8. PubMed ID: 16361827
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. 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; 174(10):1373-85. PubMed ID: 25902753
    [Abstract] [Full Text] [Related]

  • 5. 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 Oct; 12():686818. PubMed ID: 34177810
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 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 Mar; 105(3):p33-41. PubMed ID: 17192724
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. A case of a novel mutant vasopressin receptor-dependent nephrogenic diabetes insipidus with bilateral non-obstructive hydronephrosis in a middle aged man: differentiation from aquaporin-dependent nephrogenic diabetes insipidus by response of factor VII and von Willebrand factor to 1-diamino-8-arginine vasopressin administration.
    Miyakoshi M, Kamoi K, Uchida S, Sasaki S.
    Endocr J; 2003 Dec; 50(6):809-14. PubMed ID: 14709855
    [Abstract] [Full Text] [Related]

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

  • 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
    [Abstract] [Full Text] [Related]

  • 12. Nephrogenic diabetes insipidus.
    Bichet DG.
    Adv Chronic Kidney Dis; 2006 Apr 25; 13(2):96-104. PubMed ID: 16580609
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 18. A case of aquaporin 2 R85X mutation in a boy with congenital nephrogenic diabetes insipidus.
    Bircan Z, Karacayir N, Cheong HI.
    Pediatr Nephrol; 2008 Apr 26; 23(4):663-5. PubMed ID: 18040725
    [Abstract] [Full Text] [Related]

  • 19. [Compound heterozygosis with novel AQP2 gene mutation in sisters affected by autosomal congenital nephrogenic diabetes insipidus].
    Musone D, Nicosia V, Treglia A, Amoroso F, de Gemmis P, Enzo MV, Hladnik U.
    G Ital Nefrol; 2020 Apr 09; 37(2):. PubMed ID: 32281760
    [Abstract] [Full Text] [Related]

  • 20. Genetic analysis of nephrogenic diabetes insipidus patients: A study on the Iranian population.
    Ghasemi S, Mojbafan M, Talebi S, Hooman N, Hoseini R.
    Mol Genet Genomic Med; 2024 Apr 09; 12(4):e2421. PubMed ID: 38622833
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.