BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 31027113)

  • 1. 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; 98(17):e15348. PubMed ID: 31027113
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus.
    Huang L; Li W; Tang W; Lu G
    J Pediatr Endocrinol Metab; 2011; 24(9-10):807-9. PubMed ID: 22145481
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 182(5):1032-1040. PubMed ID: 32073219
    [TBL] [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; 175(5):727-33. PubMed ID: 26795631
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 18(11):. PubMed ID: 29125546
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Novel Mutation in the
    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; 10(4):350-356. PubMed ID: 29991464
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Physiopathology and diagnosis of nephrogenic diabetes insipidus.
    Devuyst O
    Ann Endocrinol (Paris); 2012 Apr; 73(2):128-9. PubMed ID: 22503803
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 44(5):1131-1137. PubMed ID: 27565746
    [TBL] [Abstract][Full Text] [Related]  

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

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Nephrogenic diabetes insipidus.
    Bichet DG
    Adv Chronic Kidney Dis; 2006 Apr; 13(2):96-104. PubMed ID: 16580609
    [TBL] [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; 2022():7073158. PubMed ID: 35865667
    [TBL] [Abstract][Full Text] [Related]  

  • 15. AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
    Gao C; Higgins PJ; Zhang W
    Cells; 2020 Sep; 9(10):. PubMed ID: 32993088
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2.
    Sasaki S; Chiga M; Kikuchi E; Rai T; Uchida S
    Clin Exp Nephrol; 2013 Jun; 17(3):338-44. PubMed ID: 23150186
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family.
    Yamashita S; Hata A; Usui T; Oda H; Hijikata A; Shirai T; Kaneko N; Hata D
    J Pediatr Endocrinol Metab; 2016 May; 29(5):591-6. PubMed ID: 26974133
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family.
    Saglar E; Deniz F; Erdem B; Karaduman T; Yönem A; Cagiltay E; Mergen H
    Endocrine; 2014 May; 46(1):148-53. PubMed ID: 24026507
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 73(5):349-54. PubMed ID: 20389105
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of a novel X-linked arginine-vasopressin receptor 2 mutation in nephrogenic diabetes insipidus: Case report and pedigree analysis.
    Peng D; Dai Y; Xu X
    Medicine (Baltimore); 2019 Oct; 98(40):e17359. PubMed ID: 31577731
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.