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Journal Abstract Search

173 related items for PubMed ID: 23150186

  • 1. 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]

  • 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. 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; 8(7):443-7. PubMed ID: 16845277
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 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 26; 182(5):1032-1040. PubMed ID: 32073219
    [Abstract] [Full Text] [Related]

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

  • 7. 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]

  • 8. 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 10; 12(4):e2421. PubMed ID: 38622833
    [Abstract] [Full Text] [Related]

  • 9. 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 10; 174(10):1373-85. PubMed ID: 25902753
    [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 10; 8(12):1855-62. PubMed ID: 9402087
    [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 Dec 10; 2022():7073158. PubMed ID: 35865667
    [Abstract] [Full Text] [Related]

  • 12. AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
    Spanakis E, Milord E, Gragnoli C.
    J Cell Physiol; 2008 Dec 10; 217(3):605-17. PubMed ID: 18726898
    [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 10; 136(6):683-690. PubMed ID: 39041787
    [Abstract] [Full Text] [Related]

  • 14. Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree.
    Bai Y, Chen Y, Kong X.
    BMC Nephrol; 2018 Feb 02; 19(1):26. PubMed ID: 29394883
    [Abstract] [Full Text] [Related]

  • 15. 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 Feb 02; 12():686818. PubMed ID: 34177810
    [Abstract] [Full Text] [Related]

  • 16. 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 02; 13(9):2267-77. PubMed ID: 12191971
    [Abstract] [Full Text] [Related]

  • 17. 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 Sep 02; 73(5):349-54. PubMed ID: 20389105
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family.
    Saglar E, Deniz F, Erdem B, Karaduman T, Yönem A, Cagiltay E, Mergen H.
    Endocrine; 2014 May 29; 46(1):148-53. PubMed ID: 24026507
    [Abstract] [Full Text] [Related]

  • 20. 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 29; 7(4):e00568. PubMed ID: 30784238
    [Abstract] [Full Text] [Related]

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