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Results: 1 to 20 of 89

1.

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.

PMID:
24434814
[PubMed - in process]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
22065930
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
18431453
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
23733424
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family.

Liu Z, Mao S, Pu J, Ding Y, Zhang B, Ding M.

Mol Vis. 2013 Aug 6;19:1834-40. eCollection 2013.

PMID:
23946638
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
21303855
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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.

PMID:
18246032
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
24169426
[PubMed - in process]
Free PMC Article
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.

PMID:
21365021
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.

Watkins RJ, Patil R, Goult BT, Thomas MG, Gottlob I, Shackleton S.

Hum Mol Genet. 2013 May 15;22(10):2105-18. doi: 10.1093/hmg/ddt060. Epub 2013 Feb 12.

PMID:
23406872
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
18372314
[PubMed - indexed for MEDLINE]
Free Article
14.

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
[PubMed - indexed for MEDLINE]
Free Article
15.

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.

PMID:
21423867
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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
[PubMed - indexed for MEDLINE]
Free Article
17.

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Bastawrous A, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I.

Nat Genet. 2006 Nov;38(11):1242-4. Epub 2006 Oct 1. Erratum in: Nat Genet. 2011 Jul;43(7):720. Bastawrous, Andrew [added].

PMID:
17013395
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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.

PMID:
22490987
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
22262942
[PubMed - indexed for MEDLINE]
Free PMC Article

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