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Journal Abstract Search

159 related items for PubMed ID: 34839503

  • 1. [Clinical characteristics and molecular genetics of seven neonates with congenital nephrogenic diabetes insipidus].
    Dong X, Dong H, Kang W, Xiong H, Xu B, Lin F, Zheng X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Dec 10; 38(12):1185-1189. PubMed ID: 34839503
    [Abstract] [Full Text] [Related]

  • 2. 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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  • 3. Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.
    García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Chocron S, Madrid A, Lafita Tejedor FJ, Gil Campos M, Sánchez Del Pozo J, Ruiz Cano R, Espino M, Gomez Vida JM, Santos F, García Nieto VM, Loza R, Rodríguez LM, Hidalgo Barquero E, Printza N, Camacho JA, Castaño L, Ariceta G, RenalTube Group.
    Eur J Pediatr; 2015 Oct 10; 174(10):1373-85. PubMed ID: 25902753
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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 10; 175(5):727-33. PubMed ID: 26795631
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  • 8. 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 10; 2022():7073158. PubMed ID: 35865667
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  • 11. 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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  • 12. 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 10; 8(7):443-7. PubMed ID: 16845277
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  • 13. Genetic analysis of nephrogenic diabetes insipidus patients: A study on the Iranian population.
    Ghasemi S, Mojbafan M, Talebi S, Hooman N, Hoseini R.
    Mol Genet Genomic Med; 2024 Apr 10; 12(4):e2421. PubMed ID: 38622833
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  • 14. 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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  • 15. 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 29; 136(6):683-690. PubMed ID: 39041787
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  • 16. Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.
    Li Q, Tian D, Cen J, Duan L, Xia W.
    J Endocrinol Invest; 2021 Dec 29; 44(12):2777-2783. PubMed ID: 34101133
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  • 17. 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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  • 18. Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy.
    Rugpolmuang R, Deeb A, Hassan Y, Deekajorndech T, Shotelersuk V, Sahakitrungruang T.
    J Pediatr Endocrinol Metab; 2014 Jan 29; 27(1-2):193-7. PubMed ID: 23950570
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  • 20. [Analysis of AVPR2 gene mutation in a pedigree affected with congenital nephrogenic diabetes insipidus].
    Dai Z, Ruan L, Jin J, Qian Y, Wang L, Shi Z, Wu C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Oct 29; 33(5):666-9. PubMed ID: 27577218
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