BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

182 related articles for article (PubMed ID: 29394883)

  • 1. 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; 19(1):26. PubMed ID: 29394883
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes.
    Fujimoto M; Imai K; Hirata K; Kashiwagi R; Morinishi Y; Kitazawa K; Sasaki S; Arinami T; Nonoyama S; Noguchi E
    BMC Med Genet; 2008 May; 9():42. PubMed ID: 18489790
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 32(8):915-920. PubMed ID: 31271558
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability.
    Huang L; Poke G; Gecz J; Gibson K
    Am J Med Genet A; 2012 Oct; 158A(10):2511-8. PubMed ID: 22965914
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus.
    Demura M; Takeda Y; Yoneda T; Furukawa K; Usukura M; Itoh Y; Mabuchi H
    Hum Mutat; 2002 Jan; 19(1):23-9. PubMed ID: 11754100
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 7():53. PubMed ID: 17101063
    [TBL] [Abstract][Full Text] [Related]  

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

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus.
    Strych L; Černá M; Hejnalová M; Zavoral T; Komrsková P; Tejcová J; Bitar I; Sládková E; Sýkora J; Šubrt I
    BMC Med Genomics; 2024 Jan; 17(1):29. PubMed ID: 38254165
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. [Identification of mutations in the arginine vasopressin receptor 2 gene in congenital nephrogenic diabetes insipidus patients].
    Gu F; Shi Y; Deng J; Jin Z
    Zhonghua Yi Xue Za Zhi; 2002 Oct; 82(20):1401-5. PubMed ID: 12509923
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. [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; 33(5):666-9. PubMed ID: 27577218
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 44(12):2777-2783. PubMed ID: 34101133
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus.
    Cho SY; Law CY; Ng KL; Lam CW
    Clin Chim Acta; 2016 Apr; 455():84-6. PubMed ID: 26828532
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.