1 |
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.
25
61
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AlMoallem B...De Baere E
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25678693 |
2015 |
2 |
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development.
61
25
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Betts-Henderson J...Nicotera P
|
19892780 |
2010 |
3 |
Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.
25
61
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Li N...Zhao K
|
18431453 |
2008 |
4 |
X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.
61
25
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Shiels A...Tychsen L
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18087240 |
2007 |
5 |
Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.
25
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Choi JH...Choi KD
|
30025138 |
2018 |
6 |
Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing.
25
|
Thomas MG...Gottlob I
|
28378818 |
2017 |
7 |
Congenital Nystagmus Gene FRMD7 Is Necessary for Establishing a Neuronal Circuit Asymmetry for Direction Selectivity.
25
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Yonehara K...Roska B
|
26711119 |
2016 |
8 |
A randomized controlled trial comparing soft contact lens and rigid gas-permeable lens wearing in infantile nystagmus.
25
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Jayaramachandran P...McLean RJ
|
24811959 |
2014 |
9 |
Abnormal retinal development associated with FRMD7 mutations.
25
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Thomas MG...Gottlob I
|
24688117 |
2014 |
10 |
A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.
25
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Watkins RJ...Shackleton S
|
23406872 |
2013 |
11 |
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.
25
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Thomas MG...Gottlob I
|
21303855 |
2011 |
12 |
Expression and localization of FRMD7 in human fetal brain, and a role for F-actin.
25
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Pu J...Zhang B
|
21386928 |
2011 |
13 |
Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.
25
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Fingert JH...Stone E
|
20450309 |
2010 |
14 |
The prevalence of nystagmus: the Leicestershire nystagmus survey.
25
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Sarvananthan N...Gottlob I
|
19458336 |
2009 |
15 |
Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.
25
|
Thomas S...Gottlob I
|
18372314 |
2008 |
16 |
Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.
25
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Kaplan Y...Akarsu NA
|
17962394 |
2008 |
17 |
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
25
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He X...Ma X
|
18246032 |
2008 |
18 |
Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.
25
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Self JE...Lotery AJ
|
17846367 |
2007 |
19 |
Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.
25
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Zhang B...Xia J
|
17893669 |
2007 |
20 |
FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.
25
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Zhang Q...Guo X
|
17768376 |
2007 |
21 |
Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.
25
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Schorderet DF...Munier FL
|
17397053 |
2007 |
22 |
Congenital nystagmus: randomized, controlled, double-masked trial of memantine/gabapentin.
25
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McLean R...Gottlob I
|
17279539 |
2007 |
23 |
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
25
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Tarpey P...Gottlob I
|
17013395 |
2006 |
24 |
The effects of gabapentin and memantine in acquired and congenital nystagmus: a retrospective study.
25
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Shery T...Gottlob I
|
16556621 |
2006 |
25 |
Autosomal dominant congenital nystagmus is not linked to 6p12, 7p11, and 15q11 in a German family.
25
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Hoffmann S...Hemmer B
|
15364228 |
2004 |
26 |
Horizontal rectus tenotomy in patients with congenital nystagmus: results in 10 adults.
25
|
Hertle RW...Mellow SD
|
14597515 |
2003 |
27 |
Clinical and ocular motor analysis of the infantile nystagmus syndrome in the first 6 months of life.
25
|
Hertle RW...Yang D
|
12034691 |
2002 |
28 |
Development of new treatments for congenital nystagmus.
25
|
Dell'Osso LF
|
11960819 |
2002 |
29 |
Nystagmus.
25
|
Gottlob I
|
11148698 |
2000 |
30 |
Congenital motor nystagmus linked to Xq26-q27.
25
|
Kerrison JB...Maumenee IH
|
9973299 |
1999 |
31 |
Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus.
25
|
Klein C...Ozelius L
|
9806847 |
1998 |
32 |
Infantile nystagmus. Development documented by eye movement recordings.
25
|
Gottlob I
|
9071231 |
1997 |
33 |
FRMD7-Related Infantile Nystagmus
61
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Thomas MG...Gottlob I
|
20301748 |
2009 |