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Journal Abstract Search

196 related items for PubMed ID: 16361827

  • 1. 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
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  • 3. 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; 8(12):1855-62. PubMed ID: 9402087
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  • 6. Nephrogenic diabetes insipidus.
    Bichet DG.
    Adv Chronic Kidney Dis; 2006 Apr; 13(2):96-104. PubMed ID: 16580609
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  • 7. [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
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  • 8. 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 12; 30(2):263-76. PubMed ID: 27156763
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  • 10. 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 12; 7(4):e00568. PubMed ID: 30784238
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  • 12. Aquaporin 2 mutations in nephrogenic diabetes insipidus.
    Loonen AJ, Knoers NV, van Os CH, Deen PM.
    Semin Nephrol; 2008 May 12; 28(3):252-65. PubMed ID: 18519086
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  • 15. Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel.
    Dollerup P, Thomsen TM, Nejsum LN, Færch M, Österbrand M, Gregersen N, Rittig S, Christensen JH, Corydon TJ.
    BMC Nephrol; 2015 Dec 29; 16():217. PubMed ID: 26714855
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  • 16. Nephrogenic diabetes insipidus due to a novel AVPR2 mutation.
    Sakallioglu O, Tascilar ME, Kalman S, Cheong HI, Atay AA.
    J Pediatr Endocrinol Metab; 2009 Feb 29; 22(2):187-9. PubMed ID: 19449677
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  • 17. [Vasopressin V2 receptor-related pathologies: congenital nephrogenic diabetes insipidus and nephrogenic syndrome of inappropiate antidiuresis].
    Morin D.
    Nephrol Ther; 2014 Dec 29; 10(7):538-46. PubMed ID: 25449762
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  • 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
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  • 19. Physiopathology and diagnosis of nephrogenic diabetes insipidus.
    Devuyst O.
    Ann Endocrinol (Paris); 2012 Apr 29; 73(2):128-9. PubMed ID: 22503803
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