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Items: 1 to 20 of 133

1.

A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family.

Du W, Bu J, Dong J, Jia Y, Li J, Liang C, Si S, Wang L.

Mol Vis. 2011;17:2765-8. Epub 2011 Oct 22.

2.
3.

FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.

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

Mol Vis. 2007 Aug 3;13:1375-8.

PMID:
17768376
4.

Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.

Li N, Wang L, Cui L, Zhang L, Dai S, Li H, Chen X, Zhu L, Hejtmancik JF, Zhao K.

Mol Vis. 2008 Apr 18;14:733-8.

5.

Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus.

Li N, Wang X, Wang Y, Wang L, Ying M, Han R, Liu Y, Zhao K.

Mol Vis. 2011 Feb 11;17:461-8.

6.

A novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus.

Hu Y, Shen J, Zhang S, Yang T, Huang S, Yuan H.

Mol Vis. 2012;18:87-91. Epub 2012 Jan 13.

7.

A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

He X, Gu F, Wang Y, Yan J, Zhang M, Huang S, Ma X.

Mol Vis. 2008 Jan 11;14:56-60.

8.

Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus.

Song FW, Chen BB, Sun ZH, Wu LP, Zhao SJ, Miao Q, Tang XJ.

J Zhejiang Univ Sci B. 2013 Jun;14(6):479-86. doi: 10.1631/jzus.B1200259. Erratum in: J Zhejiang Univ Sci B. 2013 Sep;14(9):866.

9.

A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.

He X, Gu F, Wang Z, Wang C, Tong Y, Wang Y, Yang J, Liu W, Zhang M, Ma X.

Genet Test. 2008 Dec;12(4):607-13. doi: 10.1089/gte.2008.0070.

PMID:
19072571
10.

Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.

Fingert JH, Roos B, Eyestone ME, Pham JD, Mellot ML, Stone E.

Ophthalmic Genet. 2010 Jun;31(2):77-80. doi: 10.3109/13816810903584989.

PMID:
20450309
11.

Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.

Self JE, Shawkat F, Malpas CT, Thomas NS, Harris CM, Hodgkins PR, Chen X, Trump D, Lotery AJ.

Arch Ophthalmol. 2007 Sep;125(9):1255-63.

PMID:
17846367
12.

Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.

Radhakrishna U, Ratnamala U, Deutsch S, Bartoloni L, Kuracha MR, Singh R, Banwait J, Bastola DK, Johar K, Nath SK, Antonarakis SE.

Eur J Hum Genet. 2012 Oct;20(10):1032-6. doi: 10.1038/ejhg.2012.60. Epub 2012 Apr 11.

13.

A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.

Hu J, Liang D, Xue J, Liu J, Wu L.

Mol Vis. 2011 Mar 12;17:715-22.

14.

X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.

Shiels A, Bennett TM, Prince JB, Tychsen L.

Mol Vis. 2007 Nov 29;13:2233-41.

PMID:
18087240
15.

Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.

Zhang B, Liu Z, Zhao G, Xie X, Yin X, Hu Z, Xu S, Li Q, Song F, Tian J, Luo W, Ding M, Yin J, Xia K, Xia J.

Mol Vis. 2007 Sep 13;13:1674-9.

PMID:
17893669
16.

[The G990T mutation of the FRMD7 gene in a Chinese family with congenital idiopathic nystagmus].

Li ND, Cui LH, Wang LM, Ma HZ, Zhang LL, Yue YY, Zhao KX.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Feb;25(1):11-4. Chinese.

PMID:
18247295
17.

Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.

Thomas S, Proudlock FA, Sarvananthan N, Roberts EO, Awan M, McLean R, Surendran M, Kumar AS, Farooq SJ, Degg C, Gale RP, Reinecke RD, Woodruff G, Langmann A, Lindner S, Jain S, Tarpey P, Raymond FL, Gottlob I.

Brain. 2008 May;131(Pt 5):1259-67. doi: 10.1093/brain/awn046. Epub 2008 Mar 27.

18.

A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family.

Gupta S, Pathak E, Chaudhry VN, Chaudhry P, Mishra R, Chandra A, Mukherjee A, Mutsuddi M.

Neurosci Lett. 2015 Jun 15;597:170-5. doi: 10.1016/j.neulet.2015.04.037. Epub 2015 Apr 24.

PMID:
25916882
19.

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.

AlMoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, Meire F, Janssens S, van Cauwenbergh C, Verdin H, Hooghe S, Kumar Thakur P, Coppieters F, De Leeneer K, Devriendt K, Leroy BP, De Baere E.

Invest Ophthalmol Vis Sci. 2015 Feb 12;56(3):1701-10. doi: 10.1167/iovs.14-15938.

PMID:
25678693
20.

Identification of three novel mutations in the FRMD7 gene for X-linked idiopathic congenital nystagmus.

Zhang X, Ge X, Yu Y, Zhang Y, Wu Y, Luan Y, Sun J, Qu J, Jin ZB, Gu F.

Sci Rep. 2014 Jan 17;4:3745. doi: 10.1038/srep03745.

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