References

These sources were used to develop the Genetics Home Reference condition summary on Norrie disease.

Clevers H. Wnt signaling: Ig-norrin the dogma. Curr Biol. 2004 Jun 8;14(11):R436-7. Review. PubMed citation
Lenzner S, Prietz S, Feil S, Nuber UA, Ropers HH, Berger W. Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells. Invest Ophthalmol Vis Sci. 2002 Sep;43(9):2825-33. PubMed citation
Madisons Foundation
Michaelides M, Luthert PJ, Cooling R, Firth H, Moore AT. Norrie disease and peripheral venous insufficiency. Br J Ophthalmol. 2004 Nov;88(11):1475. Erratum in: Br J Ophthalmol. 2005 May;89(5):645. PubMed citation
National Organization for Rare Disorders
Orphanet
Ott S, Patel RJ, Appukuttan B, Wang X, Stout JT. A novel mutation in the Norrie disease gene. J AAPOS. 2000 Apr;4(2):125-6. PubMed citation
Rehm HL, Zhang DS, Brown MC, Burgess B, Halpin C, Berger W, Morton CC, Corey DP, Chen ZY. Vascular defects and sensorineural deafness in a mouse model of Norrie disease. J Neurosci. 2002 Jun 1;22(11):4286-92. PubMed citation
Royer G, Hanein S, Raclin V, Gigarel N, Rozet JM, Munnich A, Steffann J, Dufier JL, Kaplan J, Bonnefont JP. NDP gene mutations in 14 French families with Norrie disease. Hum Mutat. 2003 Dec;22(6):499. PubMed citation
Suárez-Merino B, Bye J, McDowall J, Ross M, Craig IW. Sequence analysis and transcript identification within 1.5 MB of DNA deleted together with the NDP and MAO genes in atypical Norrie disease patients presenting with a profound phenotype. Hum Mutat. 2001 Jun;17(6):523. PubMed citation
Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, Jiang L, Tasman W, Zhang K, Nathans J. Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell. 2004 Mar 19;116(6):883-95. PubMed citation


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