These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
24. 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]
25. Vasopressin V2 receptor mutants that cause X-linked nephrogenic diabetes insipidus: analysis of expression, processing, and function. Oksche A; Schülein R; Rutz C; Liebenhoff U; Dickson J; Müller H; Birnbaumer M; Rosenthal W Mol Pharmacol; 1996 Oct; 50(4):820-8. PubMed ID: 8863826 [TBL] [Abstract][Full Text] [Related]
26. Brief report: a molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus. Holtzman EJ; Harris HW; Kolakowski LF; Guay-Woodford LM; Botelho B; Ausiello DA N Engl J Med; 1993 May; 328(21):1534-7. PubMed ID: 8479490 [No Abstract] [Full Text] [Related]
27. Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus. Yuasa H; Ito M; Oiso Y; Kurokawa M; Watanabe T; Oda Y; Ishizuka T; Tani N; Ito S; Shibata A J Clin Endocrinol Metab; 1994 Aug; 79(2):361-5. PubMed ID: 8045948 [TBL] [Abstract][Full Text] [Related]
28. Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. Bichet DG; Birnbaumer M; Lonergan M; Arthus MF; Rosenthal W; Goodyer P; Nivet H; Benoit S; Giampietro P; Simonetti S Am J Hum Genet; 1994 Aug; 55(2):278-86. PubMed ID: 8037205 [TBL] [Abstract][Full Text] [Related]
29. Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus. Böselt I; Tramma D; Kalamitsou S; Niemeyer T; Nykänen P; Gräf KJ; Krude H; Marenzi KS; Di Candia S; Schöneberg T; Schulz A Nephrol Dial Transplant; 2012 Apr; 27(4):1521-8. PubMed ID: 21917732 [TBL] [Abstract][Full Text] [Related]
30. Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region. van den Ouweland AM; Knoop MT; Knoers VV; Markslag PW; Rocchi M; Warren ST; Ropers HH; Fahrenholz F; Monnens LA; van Oost BA Genomics; 1992 Aug; 13(4):1350-2. PubMed ID: 1324225 [TBL] [Abstract][Full Text] [Related]
31. [Molecular biological studies on patients with nephrogenic diabetes insipidus]. Szalai C; Molnár E; Sallay P; Czinner A Orv Hetil; 1998 Apr; 139(15):883-7. PubMed ID: 9579101 [TBL] [Abstract][Full Text] [Related]
32. 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]
33. [From genes to disease: from vasopressin-V2-receptor and aquaporine-2 to nephrogenic diabetes insipidus]. Knoers NV; Deen PM Ned Tijdschr Geneeskd; 2000 Dec; 144(50):2402-4. PubMed ID: 11145096 [TBL] [Abstract][Full Text] [Related]
34. Molecular biology of diabetes insipidus. Fujiwara TM; Morgan K; Bichet DG Annu Rev Med; 1995; 46():331-43. PubMed ID: 7541187 [TBL] [Abstract][Full Text] [Related]
35. Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus. Rosenthal W; Seibold A; Antaramian A; Lonergan M; Arthus MF; Hendy GN; Birnbaumer M; Bichet DG Nature; 1992 Sep; 359(6392):233-5. PubMed ID: 1356229 [TBL] [Abstract][Full Text] [Related]
36. Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus. Rocha JL; Friedman E; Boson W; Moreira A; Figueiredo B; Liberman B; de Lacerda L; Sandrini R; Graf H; Martins S; Puñales MK; De Marco L Hum Mutat; 1999; 14(3):233-9. PubMed ID: 10477431 [TBL] [Abstract][Full Text] [Related]
38. 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]
39. Comparative mapping on the mouse and human X chromosomes of a human cDNA clone encoding the vasopressin renal-type receptor (AVP2R). Faust CJ; Gonzales JC; Seibold A; Birnbaumer M; Herman GE Genomics; 1993 Feb; 15(2):439-41. PubMed ID: 8449515 [TBL] [Abstract][Full Text] [Related]