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Results: 1 to 20 of 864

Similar articles for PubMed (Select 18431453)

1.

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.

2.

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
3.

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.

4.

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
5.

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
6.

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.

7.

[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
8.

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
9.

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.

10.
11.

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.

12.

Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.

Kaplan Y, Vargel I, Kansu T, Akin B, Rohmann E, Kamaci S, Uz E, Ozcelik T, Wollnik B, Akarsu NA.

Br J Ophthalmol. 2008 Jan;92(1):135-41. Epub 2007 Oct 25.

PMID:
17962394
13.

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
14.

Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.

Schorderet DF, Tiab L, Gaillard MC, Lorenz B, Klainguti G, Kerrison JB, Traboulsi EI, Munier FL.

Hum Mutat. 2007 May;28(5):525.

PMID:
17397053
15.

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

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

Mol Vis. 2008;14:1974-82. Epub 2008 Oct 30.

16.

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.

17.

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.

18.
19.

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.

20.

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.

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