| 1 | EVR1, EVR2, EVR4, EVR5, EVR6, EVR8, FZD4, KIF11, LRP5, NDP, TSPAN12, ZNF408
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| Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy.
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| Rao FQ, Cai XB, Cheng FF, Cheng W, Fang XL, Li N, Huang XF, Li LH, Jin ZB.
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| Invest Ophthalmol Vis Sci 58(5):2623-2629. doi: 10.1167/iovs.16-21324.
2017
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| 2 | EVR2, NDP
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| Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR.
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| Musada GR, Jalali S, Hussain A, Chururu AR, Gaddam PR, Chakrabarti S, Kaur I.
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| Mol Vis 22:491-502. eCollection 2016.
2016
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| 3 | NDP, EVR2, FZD4, EVR1, LRP5, EVR4
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| Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.
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| Qin M, Kondo H, Tahira T, Hayashi K.
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| Hum Genet 122(6):615-23. Epub 2007 Oct 23. 2008
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| 4 | EVR1, EVR2, NDP, FZD4
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| Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.
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| Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, Jiang L, Tasman W, Zhang K, Nathans J.
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| Cell 116(6):883-95. 2004
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| 5 | EVR2, NDP
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| Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.
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| Shastry BS, et al.
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| Hum Mutat 9 : 396-401. 1997
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| 6 | EVR2
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| Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy.
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| Shastry BS, Liu X, Hejtmancik JF, Plager DA, Trese MT.
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| Genomics 44(2):247-8. No abstract available. 1997
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| 7 | EVR2, NDP
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| Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.
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| Torrente I, Mangino M, Gennarelli M, Novelli G, Giannotti A, Vadala P, Dallapiccola B.
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| Am J Med Genet 72(2):242-4. 1997
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| 8 | EVR2, NDP
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| X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.
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| Johnson K, et al.
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| Clin Genet 50 : 113-115. 1996
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| 9 | EVR2, NDP
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| Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy.
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| Shastry BS, Hejtmancik JF, Plager DA, Hartzer MK, Trese MT.
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| Genomics 27(2):341-4. 1995
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| 10 | EVR2
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| X-linked familial exudative vitreoretinopathy caused by an arginine to leucine substitution in exon 3 of the Norrie gene. (abstr)
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| Johnson K, et al.
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| Am J Hum Genet 55 : A224. 1994
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| 11 | EVR2
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| Mapping studies of an X-linked familial exudative vitreoretinopathy.
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| Shastry BS, et al.
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| Biochem Biophys Res Commun 193 : 599-603. 1993
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| 12 | EVR2, NDP
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| A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.
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| Chen ZY, et al.
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| Nat Genet 5 : 180-183. 1993
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| 13 | EVR2
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| X linked exudative vitreoretinopathy : clinical features and genetic linkage analysis.
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| Fullwood P, et al.
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| Br J Ophthalmol 77 : 168-170. 1993
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| 14 | EVR2
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| Localization of a gene for X-linked vitreoretinopathy.
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| Fullwood P, et al.
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| Am J Hum Genet 49S : 346. 1991
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