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23. Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus. Lolait SJ; O'Carroll AM; McBride OW; Konig M; Morel A; Brownstein MJ Nature; 1992 May; 357(6376):336-9. PubMed ID: 1534150 [TBL] [Abstract][Full Text] [Related]
24. A duplication in the L1CAM gene associated with X-linked hydrocephalus. Van Camp G; Vits L; Coucke P; Lyonnet S; Schrander-Stumpel C; Darby J; Holden J; Munnich A; Willems PJ Nat Genet; 1993 Aug; 4(4):421-5. PubMed ID: 8401593 [TBL] [Abstract][Full Text] [Related]
25. Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome. Knoers N; van der Heyden H; van Oost BA; Ropers HH; Monnens L; Willems J Hum Genet; 1988 Sep; 80(1):31-8. PubMed ID: 2843456 [TBL] [Abstract][Full Text] [Related]
26. Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2. Knops NB; Bos KK; Kerstjens M; van Dael K; Vos YJ Am J Med Genet A; 2008 Jul; 146A(14):1853-8. PubMed ID: 18553546 [TBL] [Abstract][Full Text] [Related]
28. A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy (MTM1). Kioschis P; Rogner UC; Pick E; Klauck SM; Heiss N; Siebenhaar R; Korn B; Coy JF; Laporte J; Liechti-Gallati S; Poustka A Genomics; 1996 May; 33(3):365-73. PubMed ID: 8660996 [TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. Localization of the gene for X-linked nephrogenic diabetes insipidus to Xq28. Kambouris M; Dlouhy SR; Trofatter JA; Conneally PM; Hodes ME Am J Med Genet; 1988 Jan; 29(1):239-46. PubMed ID: 2894172 [TBL] [Abstract][Full Text] [Related]
32. Derivatives of somatic cell hybrids which carry the human gene locus for nephrogenic diabetes insipidus (NDI) express functional vasopressin renal V2-type receptors. Jans DA; van Oost BA; Ropers HH; Fahrenholz F J Biol Chem; 1990 Sep; 265(26):15379-82. PubMed ID: 2168411 [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. Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus. Wenkert D; Merendino JJ; Shenker A; Thambi N; Robertson GL; Moses AM; Spiegel AM Hum Mol Genet; 1994 Aug; 3(8):1429-30. PubMed ID: 7987330 [No Abstract] [Full Text] [Related]
35. 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]
36. YAC contig organization and CpG island analysis in Xq28. Palmieri G; Romano G; Ciccodicola A; Casamassimi A; Campanile C; Esposito T; Cappa V; Lania A; Johnson S; Reinbold R Genomics; 1994 Nov; 24(1):149-58. PubMed ID: 7896270 [TBL] [Abstract][Full Text] [Related]
37. Physical mapping of the loci Gabra3, DXPas8, CamL1, and Rsvp in a region of the mouse X chromosome homologous to human Xq28. Faust CJ; Herman GE Genomics; 1991 Sep; 11(1):154-64. PubMed ID: 1684949 [TBL] [Abstract][Full Text] [Related]
38. A polymorphism in the coding region of the vasopressin type 2 receptor (AVPR2) gene. Friedman E; Carson E; Larsson C; DeMarco L Hum Mol Genet; 1993 Oct; 2(10):1746. PubMed ID: 8268939 [No Abstract] [Full Text] [Related]
39. 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]
40. Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides. Shoji Y; Takahashi T; Suzuki Y; Suzuki T; Komatsu K; Hirono H; Shoji Y; Yokoyama T; Kito H; Takada G Hum Mutat; 1998; Suppl 1():S278-83. PubMed ID: 9452109 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]