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Results: 18

1.

Mapping the disease gene in two congenital motor nystagmus families.

Deng N, Tang F, Yang Y, Chen Y, Zou W.

Clin Experiment Ophthalmol. 2014 Jan-Feb;42(1):94-6. doi: 10.1111/ceo.12202. Epub 2013 Oct 8. No abstract available.

PMID:
24034174
2.

A commentary on confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1.

Ishikawa K.

J Hum Genet. 2012 Dec;57(12):755. doi: 10.1038/jhg.2012.122. Epub 2012 Nov 15. No abstract available.

PMID:
23151677
3.

Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1.

Li L, Xiao X, Yi C, Jiao X, Guo X, Hejtmancik JF, Zhang Q.

J Hum Genet. 2012 Dec;57(12):756-9. doi: 10.1038/jhg.2012.103. Epub 2012 Aug 23.

PMID:
22914672
4.

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.

5.

A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692.

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

Hum Genet. 2012 May;131(5):697-702. doi: 10.1007/s00439-011-1113-7. Epub 2011 Nov 8.

PMID:
22065086
6.

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.

7.

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
8.

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

Peng Y, Meng Y, Wang Z, Qin M, Li X, Dian Y, Huang S.

Mol Vis. 2009;15:810-4. Epub 2009 Apr 22.

9.

A population-based study of visual impairment among pre-school children in Beijing: the Beijing study of visual impairment in children.

Lu Q, Zheng Y, Sun B, Cui T, Congdon N, Hu A, Chen J, Shi J.

Am J Ophthalmol. 2009 Jun;147(6):1075-81. doi: 10.1016/j.ajo.2008.11.021. Epub 2009 Feb 10.

PMID:
19211091
10.
11.

Novel human pathological mutations. Gene symbol: FRMD7. Disease: congenital motor nystagmus.

Zhang B, Liu Z, Zhao G.

Hum Genet. 2007 Nov;122(3-4):414. No abstract available.

PMID:
18350648
12.

Novel human pathological mutations. Gene symbol: FRMD7. Disease: congenital motor nystagmus.

Zhang B, Liu Z, Zhao G.

Hum Genet. 2007 Nov;122(3-4):414. No abstract available.

PMID:
18350647
13.

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.

14.

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
15.

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
16.

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
17.

Linkage analysis of two families with X-linked recessive congenital motor nystagmus.

Guo X, Li S, Jia X, Xiao X, Wang P, Zhang Q.

J Hum Genet. 2006;51(1):76-80. Epub 2005 Oct 21.

PMID:
16240070
18.
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