|
1
|
Stayte M, Reeves B and Wortham C: Ocular
and vision defects in preschool children. Br J Ophthalmol.
77:228–232. 1993. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Forssman B and Ringnér B: Prevalence and
inheritance of congenital nystagmus in a Swedish population. Ann
Hum Genet. 35:139–147. 1971. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Jacobs JB and Dell'Osso LF: Congenital
nystagmus: Hypotheses for its genesis and complex waveforms within
a behavioral ocular motor system model. J Vis. 4:604–625. 2004.
View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Tarpey P, Thomas S, Sarvananthan N, Mallya
U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ,
et al: Mutations in FRMD7, a newly identified member of the FERM
family, cause X-linked idiopathic congenital nystagmus. Nat Genet.
38:1242–1244. 2006. View
Article : Google Scholar : PubMed/NCBI
|
|
5
|
Schorderet DF, Tiab L, Gaillard MC, Lorenz
B, Klainguti G, Kerrison JB, Traboulsi EI and Munier FL: Novel
mutations in FRMD7 in X-linked congenital nystagmus. Mutation in
brief #963. Online. Hum Mutat. 28:5252007. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Self JE, Shawkat F, Malpas CT, Thomas NS,
Harris CM, Hodgkins PR, Chen X, Trump D and Lotery AJ: Allelic
variation of the FRMD7 gene in congenital idiopathic nystagmus.
Arch Ophthalmol. 125:1255–1263. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Zhang B, Liu Z, Zhao G, Xie X, Yin X, Hu
Z, Xu S, Li Q, Song F, Tian J, et al: Novel mutations of the FRMD7
gene in X-linked congenital motor nystagmus. Mol Vis. 13:1674–1679.
2007.PubMed/NCBI
|
|
8
|
Zhang Q, Xiao X, Li S and Guo X: FRMD7
mutations in Chinese families with X-linked congenital motor
nystagmus. Mol Vis. 13:1375–1378. 2007.PubMed/NCBI
|
|
9
|
Kerrison JB, Vagefi MR, Barmada MM and
Maumenee IH: Congenital motor nystagmus linked to Xq26-q27. Am J
Hum Genet. 64:600–607. 1999. View
Article : Google Scholar : PubMed/NCBI
|
|
10
|
Cabot A, Rozet JM, Gerber S, Perrault I,
Ducroq D, Smahi A, Souied E, Munnich A and Kaplan J: A gene for
X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome
Xp11.4-p11.3. Am J Hum Genet. 64:1141–1146. 1999. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Adzhubei IA, Schmidt S, Peshkin L,
Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR: A
method and server for predicting damaging missense mutations. Nat
Methods. 7:248–249. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Sale MM, Craig JE, Charlesworth JC,
FitzGerald LM, Hanson IM, Dickinson JL, Matthews SJ, Heyningen Vv,
Fingert JH and Mackey DA: Broad phenotypic variability in a single
pedigree with a novel 1410delC mutation in the PST domain of the
PAX6 gene. Hum Mutat. 20:3222002. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Stone EM: Leber congenital amaurosis-a
model for efficient genetic testing of heterogeneous disorders:
LXIV Edward Jackson Memorial Lecture. Am J Ophthalmol. 144:791–811.
2007. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Zhang Q and Minoda K: Detection of
congenital color vision defects using heteroduplex-SSCP analysis.
Jpn J Ophthalmol. 40:79–85. 1996.PubMed/NCBI
|
|
15
|
Sarvananthan N, Surendran M, Roberts EO,
Jain S, Thomas S, Shah N, Proudlock FA, Thompson JR, McLean RJ,
Degg C, et al: The prevalence of nystagmus: The Leicestershire
nystagmus survey. Invest Ophthalmol Vis Sci. 50:5201–5206. 2009.
View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Li N, Wang X, Wang Y, Wang L, Ying M, Han
R, Liu Y and Zhao K: Investigation of the gene mutations in two
Chinese families with X-linked infantile nystagmus. Mol Vis.
17:461–468. 2011.PubMed/NCBI
|
|
17
|
Liu JY, Ren X, Yang X, Guo T, Yao Q, Li L,
Dai X, Zhang M, Wang L, Liu M and Wang QK: Identification of a
novel GPR143 mutation in a large Chinese family with congenital
nystagmus as the most prominent and consistent manifestation. J Hum
Genet. 52:565–570. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Zhang X, Ge X, Yu Y, Zhang Y, Wu Y, Luan
Y, Sun J, Qu J, Jin ZB and Gu F: Identification of three novel
mutations in the FRMD7 gene for X-linked idiopathic congenital
nystagmus. Sci Rep. 4:37452014. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Watkins RJ, Thomas MG, Talbot CJ, Gottlob
I and Shackleton S: The role of FRMD7 in idiopathic infantile
nystagmus. J Ophthalmol. 2012:4609562012. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Koyano Y, Kawamoto T, Shen M, Yan W,
Noshiro M, Fujii K and Kato Y: Molecular cloning and
characterization of CDEP, a novel human protein containing the
ezrin-like domain of the band 4.1 superfamily and the Dbl homology
domain of Rho guanine nucleotide exchange factors. Biochem Biophys
Res Commun. 241:369–375. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Baines AJ: A FERM-adjacent (FA) region
defines a subset of the 4.1 superfamily and is a potential
regulator of FERM domain function. BMC Genomics. 7:852006.
View Article : Google Scholar : PubMed/NCBI
|
