| 1 | ND, NDP
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| A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease.
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| Parzefall T, Lucas T, Ritter M, Ludwig M, Ramsebner R, Frohne A, Schöfer C, Hengstschläger M, Frei K.
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| Audiol Neurootol 19(3):203-9. doi: 10.1159/000358866. Epub 2014 Apr 30.
2014
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| 2 | ND, NDP
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| Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells.
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| Zuercher J, Fritzsche M, Feil S, Mohn L, Berger W.
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| Hum Mol Genet 21(12):2619-30. doi: 10.1093/hmg/dds087. Epub 2012 Mar 6.
2012
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| 3 | DELXP11, MAOA, MAOB, ND, NDP
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| Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.
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| Staropoli JF, Xin W, Sims KB.
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| J Med Genet 47(11):786-90. Epub 2010 Aug 2.PMID: 20679667 2010
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| 4 | DELXP11, EFHC2, MAOA, MAOB, ND, NDP
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| Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.
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| Rodriguez-Revenga L, Madrigal I, Alkhalidi LS, Armengol L, González E, Badenas C, Estivill X, Milà M.
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| Am J Med Genet A 143A(9):916-20.PMID: 17431911 2007
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| 5 | DELXP11, MAO, ND, NDP
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| 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.
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| Suárez-Merino B, Bye J, McDowall J, Ross M, Craig IW.
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| Hum Mutat 17(6):523.PMID: 11385715 2001
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| 6 | ND, NDP
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| Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy.
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| Shastry BS.
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| Biochem Biophys Res Commun 246 : 35-38. 1998
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| 7 | ND, NDP
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| Isolated Norrie disease in a female caused by a balanced translocation t(X,6).
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| Meire FM, et al.
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| Ophthalmic Genet 19 : 203-207. 1998
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| 8 | DELXP11, MAOA, MAOB, ND, NDP
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| Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.
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| Collins FA, Murphy DL, Reiss AL, Sims KB, Lewis JG, Freund L, Karoum F, Zhu D, Maumenee IH, Antonarakis SE.
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| Am J Med Genet 42(1):127-34.PMID: 1308352 [ 1992
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| 9 | DELXP11, ND
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| The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.
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| Sims KB, Lebo RV, Benson G, Shalish C, Schuback D, Chen ZY, Bruns G, Craig IW, Golbus MS, Breakefield XO.
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| Hum Mol Genet 1(2):83-9.PMID: 1301161 1992
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| 10 | MAOA, MAOB, ND, NDP
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| Human monoamine oxidase A and B genes map to Xp11.23 and are deleted in a patient with Norrie disease.
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| Lan NC, Heinzmann C, Gal A, Klisak I, Orth U, Lai E, Grimsby J, Sparkes RS, Mohandas T, Shih JC.
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| Genomics 4 : 552-559. 1989
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| 11 | ND, NDP
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| Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease.
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| Zhu D, et al.
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| Am J Med Genet 33 : 485-488. 1989
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| 12 | ND, NDP
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| Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation.
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| Ohba N, Yamashita T.
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| Br J Ophthalmol 70 : 64-71. 1986
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