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Journal Abstract Search

216 related items for PubMed ID: 29594432

  • 21. 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
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  • 24. Vasopressin receptor mutations causing nephrogenic diabetes insipidus.
    Bichet DG, Turner M, Morin D.
    Proc Assoc Am Physicians; 1998 Mar; 110(5):387-94. PubMed ID: 9756088
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  • 26. 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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  • 27. Three Pediatric Patients with Congenital Nephrogenic Diabetes Insipidus due to AVPR2 Nonsense Mutations and Different Clinical Manifestations: A Case Report.
    Watanabe H, Tamura H, Furuie K, Kuraoka S, Nakazato H.
    Case Rep Nephrol Dial; 2023 Feb 02; 13(1):162-172. PubMed ID: 37900924
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  • 28. 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
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  • 30. 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 Nov 10; 73(5):349-54. PubMed ID: 20389105
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  • 33. Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation.
    van Lieburg AF, Verdijk MA, Schoute F, Ligtenberg MJ, van Oost BA, Waldhauser F, Dobner M, Monnens LA, Knoers NV.
    Hum Genet; 1995 Jul 10; 96(1):70-8. PubMed ID: 7607658
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  • 34. A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2.
    Hinrichs GR, Hansen LH, Nielsen MR, Fagerberg C, Dieperink H, Rittig S, Jensen BL.
    Physiol Rep; 2016 Apr 10; 4(8):. PubMed ID: 27117808
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  • 35. 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 10; 98(17):e15348. PubMed ID: 31027113
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  • 37. 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
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  • 38. 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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  • 39. Novel mutation of aquaporin-2 gene in a patient with congenital nephrogenic diabetes insipidus.
    Moon SS, Kim HJ, Choi YK, Seo HA, Jeon JH, Lee JE, Lee JY, Kwon TH, Kim JG, Kim BW, Lee IK.
    Endocr J; 2009 Nov 14; 56(7):905-10. PubMed ID: 19461158
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  • 40. Mutations in the vasopressin V2 receptor gene in two families with nephrogenic diabetes insipidus.
    Holtzman EJ, Kolakowski LF, Geifman-Holtzman O, O'Brien DG, Rasoulpour M, Guillot AP, Ausiello DA.
    J Am Soc Nephrol; 1994 Aug 14; 5(2):169-76. PubMed ID: 7993996
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