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583 related items for PubMed ID: 17941907

  • 1. Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene.
    Faerch M, Christensen JH, Corydon TJ, Kamperis K, de Zegher F, Gregersen N, Robertson GL, Rittig S.
    Clin Endocrinol (Oxf); 2008 Mar; 68(3):395-403. PubMed ID: 17941907
    [Abstract] [Full Text] [Related]

  • 2. Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.
    Neocleous V, Skordis N, Shammas C, Efstathiou E, Mastroyiannopoulos NP, Phylactou LA.
    Metabolism; 2012 Jul; 61(7):922-30. PubMed ID: 22386940
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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 29; 175(5):727-33. PubMed ID: 26795631
    [Abstract] [Full Text] [Related]

  • 5. [Identification of mutations in the arginine vasopressin receptor 2 gene in congenital nephrogenic diabetes insipidus patients].
    Gu F, Shi Y, Deng J, Jin Z.
    Zhonghua Yi Xue Za Zhi; 2002 Oct 25; 82(20):1401-5. PubMed ID: 12509923
    [Abstract] [Full Text] [Related]

  • 6. Vasopressin receptor mutations causing nephrogenic diabetes insipidus.
    Bichet DG, Turner M, Morin D.
    Proc Assoc Am Physicians; 1998 Oct 25; 110(5):387-94. PubMed ID: 9756088
    [Abstract] [Full Text] [Related]

  • 7. Intrafamilial phenotype variability in nephrogenic diabetes insipidus.
    Kalenga K, Persu A, Goffin E, Lavenne-Pardonge E, van Cangh PJ, Bichet DG, Devuyst O.
    Am J Kidney Dis; 2002 Apr 25; 39(4):737-43. PubMed ID: 11920339
    [Abstract] [Full Text] [Related]

  • 8. 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 25; 182(5):1032-1040. PubMed ID: 32073219
    [Abstract] [Full Text] [Related]

  • 9. 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 May 25; 73(5):349-54. PubMed ID: 20389105
    [Abstract] [Full Text] [Related]

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

  • 11. Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus.
    Faerch M, Christensen JH, Rittig S, Johansson JO, Gregersen N, de Zegher F, Corydon TJ.
    Am J Physiol Renal Physiol; 2009 Dec 25; 297(6):F1518-25. PubMed ID: 19812297
    [Abstract] [Full Text] [Related]

  • 12. A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree.
    Guo WH, Li Q, Wei HY, Lu HY, Qu HQ, Zhu M.
    J Int Med Res; 2016 Oct 25; 44(5):1131-1137. PubMed ID: 27565746
    [Abstract] [Full Text] [Related]

  • 13. V2R mutations and nephrogenic diabetes insipidus.
    Bichet DG.
    Prog Mol Biol Transl Sci; 2009 Oct 25; 89():15-29. PubMed ID: 20374732
    [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 Oct 25; 2022():7073158. PubMed ID: 35865667
    [Abstract] [Full Text] [Related]

  • 15. A novel splice site mutation of the arginine vasopressin-neurophysin II gene identified in a kindred with autosomal dominant familial neurohypophyseal diabetes insipidus.
    Tae HJ, Baek KH, Shim SM, Yoo SJ, Kang MI, Cha BY, Lee KW, Son HY, Kang SK.
    Mol Genet Metab; 2005 Oct 25; 86(1-2):307-13. PubMed ID: 16006166
    [Abstract] [Full Text] [Related]

  • 16. Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.
    Chen CH, Chen WY, Liu HL, Liu TT, Tsou AP, Lin CY, Chao T, Qi Y, Hsiao KJ.
    J Hum Genet; 2002 Oct 25; 47(2):66-73. PubMed ID: 11916004
    [Abstract] [Full Text] [Related]

  • 17. Congenital nephrogenic diabetes insipidus accompanied with central nephrogenic diabetes secondary to pituitary surgery -a case report.
    Zhang W, Shen Y, Ren Y, Xin Y, Wang L.
    BMC Endocr Disord; 2021 Apr 21; 21(1):78. PubMed ID: 33882907
    [Abstract] [Full Text] [Related]

  • 18. A novel splicing mutation in the V2 vasopressin receptor.
    Kamperis K, Siggaard C, Herlin T, Nathan E, Hertz JM, Rittig S.
    Pediatr Nephrol; 2000 Nov 21; 15(1-2):43-9. PubMed ID: 11095010
    [Abstract] [Full Text] [Related]

  • 19. AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
    Spanakis E, Milord E, Gragnoli C.
    J Cell Physiol; 2008 Dec 21; 217(3):605-17. PubMed ID: 18726898
    [Abstract] [Full Text] [Related]

  • 20. Genetic analysis of a congenital nephrogenic diabetes insipidus pedigree.
    Shen Y, Lai X, Xiao X, Li J, Yu R, Gao H, Zhang M.
    Chin Med J (Engl); 2014 Dec 21; 127(6):1089-92. PubMed ID: 24622440
    [Abstract] [Full Text] [Related]

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