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