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6. Physiopathology and diagnosis of nephrogenic diabetes insipidus. Devuyst O. Ann Endocrinol (Paris); 2012 Apr; 73(2):128-9. PubMed ID: 22503803 [Abstract] [Full Text] [Related]
7. Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing. Deen PM, Croes H, van Aubel RA, Ginsel LA, van Os CH. J Clin Invest; 1995 May; 95(5):2291-6. PubMed ID: 7537761 [Abstract] [Full Text] [Related]
15. Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. van Lieburg AF, Verdijk MA, Knoers VV, van Essen AJ, Proesmans W, Mallmann R, Monnens LA, van Oost BA, van Os CH, Deen PM. Am J Hum Genet; 1994 Oct; 55(4):648-52. PubMed ID: 7524315 [Abstract] [Full Text] [Related]
17. Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus. Marr N, Bichet DG, Hoefs S, Savelkoul PJ, Konings IB, De Mattia F, Graat MP, Arthus MF, Lonergan M, Fujiwara TM, Knoers NV, Landau D, Balfe WJ, Oksche A, Rosenthal W, Müller D, Van Os CH, Deen PM. J Am Soc Nephrol; 2002 Sep; 13(9):2267-77. PubMed ID: 12191971 [Abstract] [Full Text] [Related]
20. [From genes to disease: from vasopressin-V2-receptor and aquaporine-2 to nephrogenic diabetes insipidus]. Knoers NV, Deen PM. Ned Tijdschr Geneeskd; 2000 Dec 09; 144(50):2402-4. PubMed ID: 11145096 [Abstract] [Full Text] [Related] Page: [Next] [New Search]