BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

268 related articles for article (PubMed ID: 7607658)

  • 1. 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; 96(1):70-8. PubMed ID: 7607658
    [TBL] [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; 182(5):1032-1040. PubMed ID: 32073219
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Vasopressin type 2 receptor V88M mutation: molecular basis of partial and complete nephrogenic diabetes insipidus.
    Bockenhauer D; Carpentier E; Rochdi D; van't Hoff W; Breton B; Bernier V; Bouvier M; Bichet DG
    Nephron Physiol; 2010; 114(1):p1-10. PubMed ID: 19816050
    [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. Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.
    Pasel K; Schulz A; Timmermann K; Linnemann K; Hoeltzenbein M; Jääskeläinen J; Grüters A; Filler G; Schöneberg T
    J Clin Endocrinol Metab; 2000 Apr; 85(4):1703-10. PubMed ID: 10770218
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 8(12):1855-62. PubMed ID: 9402087
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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;
    Eur J Pediatr; 2015 Oct; 174(10):1373-85. PubMed ID: 25902753
    [TBL] [Abstract][Full Text] [Related]  

  • 11. AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.
    Wildin RS; Cogdell DE; Valadez V
    Kidney Int; 1998 Dec; 54(6):1909-22. PubMed ID: 9853256
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients.
    Boson WL; Della Manna T; Damiani D; Miranda DM; Gadelha MR; Liberman B; Correa H; Romano-Silva MA; Friedman E; Silva FF; Ribeiro PA; De Marco L
    Genet Test; 2006; 10(3):157-62. PubMed ID: 17020465
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.
    Arthus MF; Lonergan M; Crumley MJ; Naumova AK; Morin D; DE Marco LA; Kaplan BS; Robertson GL; Sasaki S; Morgan K; Bichet DG; Fujiwara TM
    J Am Soc Nephrol; 2000 Jun; 11(6):1044-1054. PubMed ID: 10820168
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus.
    Cheong HI; Park HW; Ha IS; Moon HN; Choi Y; Ko KW; Jun JK
    Nephron; 1997; 75(4):431-7. PubMed ID: 9127330
    [TBL] [Abstract][Full Text] [Related]  

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

  • 18. 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]  

  • 19. [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]  

  • 20. A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus.
    Kinoshita K; Miura Y; Nagasaki H; Murase T; Bando Y; Oiso Y
    J Endocrinol Invest; 2004 Feb; 27(2):167-70. PubMed ID: 15129813
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.