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Items: 15

1.

Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus.

Zhao H, Huang XF, Zheng ZL, Deng WL, Lei XL, Xing DJ, Ye L, Xu SZ, Chen J, Zhang F, Yu XP, Jin ZB.

BMJ Open. 2016 Apr 1;6(4):e010649. doi: 10.1136/bmjopen-2015-010649.

2.

A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus.

Choi JH, Shin JH, Seo JH, Jung JH, Choi KD.

Sci Rep. 2015 Aug 13;5:13003. doi: 10.1038/srep13003.

3.

Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus.

Zhu Y, Zhuang J, Ge X, Zhang X, Wang Z, Sun J, Yang J, Gu F.

Sci Rep. 2013 Oct 30;3:3084. doi: 10.1038/srep03084.

4.

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.

5.
6.

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.

7.

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.

8.

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.

9.

The Role of FRMD7 in Idiopathic Infantile Nystagmus.

Watkins RJ, Thomas MG, Talbot CJ, Gottlob I, Shackleton S.

J Ophthalmol. 2012;2012:460956. doi: 10.1155/2012/460956. Epub 2011 Aug 29.

10.

Expression and localization of FRMD7 in human fetal brain, and a role for F-actin.

Pu J, Li Y, Liu Z, Yan Y, Tian J, Chen S, Zhang B.

Mol Vis. 2011 Feb 24;17:591-7.

11.

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.

12.

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.

Thomas MG, Crosier M, Lindsay S, Kumar A, Thomas S, Araki M, Talbot CJ, McLean RJ, Surendran M, Taylor K, Leroy BP, Moore AT, Hunter DG, Hertle RW, Tarpey P, Langmann A, Lindner S, Brandner M, Gottlob I.

Brain. 2011 Mar;134(Pt 3):892-902. doi: 10.1093/brain/awq373. Epub 2011 Feb 8.

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14.

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.

15.

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.

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