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Items: 1 to 20 of 162

1.

Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease.

Yang H, Li S, Xiao X, Guo X, Zhang Q.

Curr Eye Res. 2012 Aug;37(8):726-9. doi: 10.3109/02713683.2012.675615. Epub 2012 May 7.

PMID:
22563645
2.

Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.

Kondo H, Qin M, Kusaka S, Tahira T, Hasebe H, Hayashi H, Uchio E, Hayashi K.

Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1276-82.

PMID:
17325173
3.

[Analysis of gene mutation in a Chinese family with Norrie disease].

Zhang TX, Zhao XL, Hua R, Zhang JS, Zhang X.

Zhonghua Yan Ke Za Zhi. 2012 Sep;48(9):815-8. Chinese.

PMID:
23141577
4.
5.

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Cantalapiedra D, Lorda-Sanchez I, Rodriguez de Alba M, Ramos C, Ayuso C.

Mol Vis. 2005 Sep 2;11:705-12.

6.

[Analysis of the NDP gene in a Chinese family with X-linked recessive Norrie disease].

Mei L, Huang Y, Pan Q, Liang D, Wu L.

Zhonghua Yan Ke Za Zhi. 2015 May;51(5):360-3. Chinese.

PMID:
26311697
7.

A novel c.2T>A NDP missense mutation in a Chinese family with Norrie disease.

Fangting L, Lvzhen H, Xiaoxin L.

Acta Ophthalmol. 2016 Sep;94(6):e516-7. doi: 10.1111/aos.12904. Epub 2015 Nov 7. No abstract available.

8.

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

Poulter JA, Davidson AE, Ali M, Gilmour DF, Parry DA, Mintz-Hittner HA, Carr IM, Bottomley HM, Long VW, Downey LM, Sergouniotis PI, Wright GA, MacLaren RE, Moore AT, Webster AR, Inglehearn CF, Toomes C.

Invest Ophthalmol Vis Sci. 2012 May 14;53(6):2873-9. doi: 10.1167/iovs.11-8629.

PMID:
22427576
9.

Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity.

Dickinson JL, Sale MM, Passmore A, FitzGerald LM, Wheatley CM, Burdon KP, Craig JE, Tengtrisorn S, Carden SM, Maclean H, Mackey DA.

Clin Exp Ophthalmol. 2006 Sep-Oct;34(7):682-8.

PMID:
16970763
10.

Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.

Yang H, Li S, Xiao X, Wang P, Guo X, Zhang Q.

Mol Vis. 2012;18:2438-46. Epub 2012 Oct 4.

11.

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

Nikopoulos K, Venselaar H, Collin RW, Riveiro-Alvarez R, Boonstra FN, Hooymans JM, Mukhopadhyay A, Shears D, van Bers M, de Wijs IJ, van Essen AJ, Sijmons RH, Tilanus MA, van Nouhuys CE, Ayuso C, Hoefsloot LH, Cremers FP.

Hum Mutat. 2010 Jun;31(6):656-66. doi: 10.1002/humu.21250.

PMID:
20340138
12.

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.

Lev D, Weigl Y, Hasan M, Gak E, Davidovich M, Vinkler C, Leshinsky-Silver E, Lerman-Sagie T, Watemberg N.

Am J Med Genet A. 2007 May 1;143A(9):921-4.

PMID:
17334993
13.

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. 2014;19(3):203-9. doi: 10.1159/000358866. Epub 2014 Apr 30.

PMID:
24801666
14.

Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.

Xu Y, Huang L, Li J, Zhang Q, Fei P, Zhu X, Tai Z, Ma S, Gong B, Li Y, Zang W, Zhu X, Zhao P, Yang Z.

Mol Vis. 2014 Sep 20;20:1296-306. eCollection 2014.

15.

Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.

Pelcastre EL, Villanueva-Mendoza C, Zenteno JC.

Clin Exp Ophthalmol. 2010 May;38(4):367-74. doi: 10.1111/j.1442-9071.2010.02245.x. Epub 2010 Feb 22.

PMID:
20491809
16.

A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.

Liu D, Hu Z, Peng Y, Yu C, Liu Y, Mo X, Li X, Lu L, Xu X, Su W, Pan Q, Xia K.

Mol Vis. 2010 Dec 8;16:2653-8.

17.

Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.

Wu WC, Drenser K, Trese M, Capone A Jr, Dailey W.

Arch Ophthalmol. 2007 Feb;125(2):225-30.

PMID:
17296899
18.

Familial cases of Norrie disease detected by copy number analysis.

Arai E, Fujimaki T, Yanagawa A, Fujiki K, Yokoyama T, Okumura A, Shimizu T, Murakami A.

Jpn J Ophthalmol. 2014 Sep;58(5):448-54. doi: 10.1007/s10384-014-0334-4. Epub 2014 Jul 15.

PMID:
25023092
19.

Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.

Fei P, Zhang Q, Huang L, Xu Y, Zhu X, Tai Z, Gong B, Ma S, Yao Q, Li J, Zhao P, Yang Z.

Mol Vis. 2014 Mar 29;20:395-409. eCollection 2014.

20.

A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy.

Chamney S, McLoone E, Willoughby CE.

Eye (Lond). 2011 Dec;25(12):1658. doi: 10.1038/eye.2011.226. Epub 2011 Sep 30. No abstract available.

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