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4. Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. van den Ouweland AM; Dreesen JC; Verdijk M; Knoers NV; Monnens LA; Rocchi M; van Oost BA Nat Genet; 1992 Oct; 2(2):99-102. PubMed ID: 1303271 [TBL] [Abstract][Full Text] [Related]
5. Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus. Tsukaguchi H; Matsubara H; Aritaki S; Kimura T; Abe S; Inada M Biochem Biophys Res Commun; 1993 Dec; 197(2):1000-10. PubMed ID: 8267567 [TBL] [Abstract][Full Text] [Related]
6. Mutations in the vasopressin V2 receptor gene in families with nephrogenic diabetes insipidus and functional expression of the Q-2 mutant. Rosenthal W; Seibold A; Antaramian A; Gilbert S; Birnbaumer M; Bichet DG; Arthus MF; Lonergan M Cell Mol Biol (Noisy-le-grand); 1994 May; 40(3):429-36. PubMed ID: 7920187 [TBL] [Abstract][Full Text] [Related]
7. X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies. Bichet DG; Hendy GN; Lonergan M; Arthus MF; Ligier S; Pausova Z; Kluge R; Zingg H; Saenger P; Oppenheimer E Am J Hum Genet; 1992 Nov; 51(5):1089-1102. PubMed ID: 1357965 [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. Mutations in the vasopressin V2 receptor gene in two families with nephrogenic diabetes insipidus. Holtzman EJ; Kolakowski LF; Geifman-Holtzman O; O'Brien DG; Rasoulpour M; Guillot AP; Ausiello DA J Am Soc Nephrol; 1994 Aug; 5(2):169-76. PubMed ID: 7993996 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Three novel AVPR2 mutations in three Japanese families with X-linked nephrogenic diabetes insipidus. Tajima T; Nakae J; Takekoshi Y; Takahashi Y; Yuri K; Nagashima T; Fujieda K Pediatr Res; 1996 Mar; 39(3):522-6. PubMed ID: 8929875 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. Pan Y; Metzenberg A; Das S; Jing B; Gitschier J Nat Genet; 1992 Oct; 2(2):103-6. PubMed ID: 1303257 [TBL] [Abstract][Full Text] [Related]
16. A novel splicing mutation in the V2 vasopressin receptor. Kamperis K; Siggaard C; Herlin T; Nathan E; Hertz JM; Rittig S Pediatr Nephrol; 2000 Nov; 15(1-2):43-9. PubMed ID: 11095010 [TBL] [Abstract][Full Text] [Related]
17. Brief report: a mutation in the vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus. Merendino JJ; Speigel AM; Crawford JD; O'Carroll AM; Brownstein MJ; Lolait SJ N Engl J Med; 1993 May; 328(21):1538-41. PubMed ID: 8479491 [No Abstract] [Full Text] [Related]
18. Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. Friedman E; Bale AE; Carson E; Boson WL; Nordenskjöld M; Ritzén M; Ferreira PC; Jammal A; De Marco L Proc Natl Acad Sci U S A; 1994 Aug; 91(18):8457-61. PubMed ID: 8078903 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. Analysis of vasopressin receptor type II (V2R) gene in three Japanese pedigrees with congenital nephrogenic diabetes insipidus: identification of a family with complete deletion of the V2R gene. Jinnouchi H; Araki E; Miyamura N; Kishikawa H; Yoshimura R; Isami S; Yamaguchi K; Iwamatsu H; Shichiri M Eur J Endocrinol; 1996 Jun; 134(6):689-98. PubMed ID: 8766937 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]