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500 related items for PubMed ID: 25902753

  • 1. 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]

  • 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. 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; 175(5):727-33. PubMed ID: 26795631
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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; 182(5):1032-1040. PubMed ID: 32073219
    [Abstract] [Full Text] [Related]

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

  • 7. 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; 12():686818. PubMed ID: 34177810
    [Abstract] [Full Text] [Related]

  • 8. 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; 17(3):338-44. PubMed ID: 23150186
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. 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]

  • 12. Novel mutations underlying nephrogenic diabetes insipidus in Arab families.
    Carroll P, Al-Mojalli H, Al-Abbad A, Al-Hassoun I, Al-Hamed M, Al-Amr R, Butt AI, Meyer BF.
    Genet Med; 2006 Jul 26; 8(7):443-7. PubMed ID: 16845277
    [Abstract] [Full Text] [Related]

  • 13. A novel AVPR2 gene mutation in a Chinese pedigree with nephrogenic diabetes insipidus.
    Zhao Y, Li K, Chen C, Lv X, Wang Y, Ma L, Fu S, Liu J.
    Postgrad Med; 2024 Aug 26; 136(6):683-690. PubMed ID: 39041787
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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]

  • 17. Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.
    Kor Y, Zou M, Al-Rijjal RA, Monies D, Meyer BF, Shi Y.
    BMC Med Genet; 2018 Jul 11; 19(1):115. PubMed ID: 29996815
    [Abstract] [Full Text] [Related]

  • 18. 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 Jul 11; 10(3):157-62. PubMed ID: 17020465
    [Abstract] [Full Text] [Related]

  • 19. 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 11; 33(2):210-4. PubMed ID: 18473191
    [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 11; 12(4):e2421. PubMed ID: 38622833
    [Abstract] [Full Text] [Related]

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