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Journal Abstract Search

221 related items for PubMed ID: 9402087

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus.
    Kotnik P, Battelino T, Debeljak M, Podkrajsek KT, Waldhauser F, Frøkiaer J, Nielsen S, Krzisnik C.
    J Pediatr Endocrinol Metab; 2007 Apr; 20(4):483-9. PubMed ID: 17550212
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. [From genes to disease: from vasopressin-V2-receptor and aquaporine-2 to nephrogenic diabetes insipidus].
    Knoers NV, Deen PM.
    Ned Tijdschr Geneeskd; 2000 Dec 09; 144(50):2402-4. PubMed ID: 11145096
    [Abstract] [Full Text] [Related]

  • 5. 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 09; 6(11):1865-71. PubMed ID: 9302264
    [Abstract] [Full Text] [Related]

  • 6. Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.
    van Lieburg AF, Verdijk MA, Knoers VV, van Essen AJ, Proesmans W, Mallmann R, Monnens LA, van Oost BA, van Os CH, Deen PM.
    Am J Hum Genet; 1994 Oct 09; 55(4):648-52. PubMed ID: 7524315
    [Abstract] [Full Text] [Related]

  • 7. Mutations in the vasopressin V2 receptor and aquaporin-2 genes in twelve families with congenital nephrogenic diabetes insipidus.
    Vargas-Poussou R, Forestier L, Dautzenberg MD, Niaudet P, Déchaux M, Antignac C.
    Adv Exp Med Biol; 1998 Oct 09; 449():387-90. PubMed ID: 10026829
    [No Abstract] [Full Text] [Related]

  • 8. 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 09; 8(7):443-7. PubMed ID: 16845277
    [Abstract] [Full Text] [Related]

  • 9. 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 09; 22(2):187-9. PubMed ID: 19449677
    [Abstract] [Full Text] [Related]

  • 10. Normal fibrinolytic responses to 1-desamino-8-D-arginine vasopressin in patients with nephrogenic diabetes insipidus caused by mutations in the aquaporin 2 gene.
    van Lieburg AF, Knoers VV, Mallmann R, Proesmans W, van den Heuvel LP, Monnens LA.
    Nephron; 1996 Feb 09; 72(4):544-6. PubMed ID: 8730418
    [Abstract] [Full Text] [Related]

  • 11. Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.
    Pasel K, Schulz A, Timmermann K, Linnemann K, Hoeltzenbein M, Jääskeläinen J, Grüters A, Filler G, Schöneberg T.
    J Clin Endocrinol Metab; 2000 Apr 09; 85(4):1703-10. PubMed ID: 10770218
    [Abstract] [Full Text] [Related]

  • 12. [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]

  • 13. Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus.
    Rocha JL, Friedman E, Boson W, Moreira A, Figueiredo B, Liberman B, de Lacerda L, Sandrini R, Graf H, Martins S, Puñales MK, De Marco L.
    Hum Mutat; 1999 May 12; 14(3):233-9. PubMed ID: 10477431
    [Abstract] [Full Text] [Related]

  • 14. 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 May 12; 2022():7073158. PubMed ID: 35865667
    [Abstract] [Full Text] [Related]

  • 15. Vasopressin receptor mutations causing nephrogenic diabetes insipidus.
    Bichet DG, Turner M, Morin D.
    Proc Assoc Am Physicians; 1998 May 12; 110(5):387-94. PubMed ID: 9756088
    [Abstract] [Full Text] [Related]

  • 16. 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 12; 20(6):1076-8. PubMed ID: 16361827
    [Abstract] [Full Text] [Related]

  • 17. Molecular biology of diabetes insipidus.
    Fujiwara TM, Morgan K, Bichet DG.
    Annu Rev Med; 1995 Dec 12; 46():331-43. PubMed ID: 7541187
    [Abstract] [Full Text] [Related]

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

  • 19. 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]

  • 20. Molecular and cellular defects in nephrogenic diabetes insipidus.
    Knoers NV, van Os CH.
    Curr Opin Nephrol Hypertens; 1996 Jul 29; 5(4):353-8. PubMed ID: 8823534
    [Abstract] [Full Text] [Related]

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