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Journal Abstract Search

166 related items for PubMed ID: 17101063

  • 1. Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.
    Dong Y, Sheng H, Chen X, Yin J, Su Q.
    BMC Genet; 2006 Nov 14; 7():53. PubMed ID: 17101063
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  • 2. 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
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  • 7. 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 02; 175(5):727-33. PubMed ID: 26795631
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  • 9. Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus.
    Tegay DH, Lane AH, Roohi J, Hatchwell E.
    Am J Med Genet A; 2007 Mar 15; 143A(6):594-8. PubMed ID: 17318848
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  • 10. 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 15; 22(2):187-9. PubMed ID: 19449677
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  • 11. Contiguous gene deletion in a Chinese family with X-linked nephrogenic diabetes insipidus: challenges in early diagnosis and implications for affected families.
    Leung MT, Sit JKK, Cheung HN, Iu YP, Chan WKY, Shek CC.
    J Pediatr Endocrinol Metab; 2019 Aug 27; 32(8):915-920. PubMed ID: 31271558
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  • 12. 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 Aug 27; 2022():7073158. PubMed ID: 35865667
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  • 17. A novel AVPR2 missense mutation in an Asian family with inherited nephrogenic diabetes insipidus: A case report.
    Zhang M, Yu Q, Chen C, Han J, Cheng B, Tian D.
    Medicine (Baltimore); 2019 Apr 27; 98(17):e15348. PubMed ID: 31027113
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  • 18. Compound deletion of the rhoGAP C1 and V2 vasopressin receptor genes in a patient with nephrogenic diabetes insipidus.
    Schöneberg T, Pasel K, von Baehr V, Schulz A, Volk HD, Gudermann T, Filler G.
    Hum Mutat; 1999 Apr 27; 14(2):163-74. PubMed ID: 10425039
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  • 19. 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 27; 44(5):1131-1137. PubMed ID: 27565746
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