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Journal Abstract Search

216 related items for PubMed ID: 29594432

  • 1. Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus.
    Joshi S, Kvistgaard H, Kamperis K, Færch M, Hagstrøm S, Gregersen N, Rittig S, Christensen JH.
    Eur J Pediatr; 2018 Sep; 177(9):1399-1405. PubMed ID: 29594432
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  • 2. 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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  • 3. 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 29; 44(5):1131-1137. PubMed ID: 27565746
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  • 4. 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 29; 2022():7073158. PubMed ID: 35865667
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  • 6. 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 29; 8(12):1855-62. PubMed ID: 9402087
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  • 9. [Analysis of AVPR2 variant in a neonate with congenital nephrogenic diabetes insipidus].
    Yu Y, Chen A, Zheng J, Chen L, Du L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Dec 10; 37(12):1376-1379. PubMed ID: 33306826
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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 10; 22(2):187-9. PubMed ID: 19449677
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  • 11. Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus.
    Joshi S, Brandstrom P, Gregersen N, Rittig S, Christensen JH.
    Case Rep Nephrol Dial; 2017 Feb 10; 7(3):130-137. PubMed ID: 29177155
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  • 13. 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 10; 182(5):1032-1040. PubMed ID: 32073219
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  • 18. 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 10; 61(7):922-30. PubMed ID: 22386940
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