| 1 |
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.
38
4
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AlMoallem B...De Baere E
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25678693
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2015 |
| 2 |
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development.
38
4
|
Betts-Henderson J...Nicotera P
|
19892780
|
2010 |
| 3 |
Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.
38
4
|
Li N...Zhao K
|
18431453
|
2008 |
| 4 |
X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.
38
4
|
Shiels A...Tychsen L
|
18087240
|
2007 |
| 5 |
Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.
4
|
Choi JH...Choi KD
|
30025138
|
2018 |
| 6 |
Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing.
4
|
Thomas MG...Gottlob I
|
28378818
|
2017 |
| 7 |
Congenital Nystagmus Gene FRMD7 Is Necessary for Establishing a Neuronal Circuit Asymmetry for Direction Selectivity.
4
|
Yonehara K...Roska B
|
26711119
|
2016 |
| 8 |
A randomized controlled trial comparing soft contact lens and rigid gas-permeable lens wearing in infantile nystagmus.
4
|
Jayaramachandran P...McLean RJ
|
24811959
|
2014 |
| 9 |
Abnormal retinal development associated with FRMD7 mutations.
4
|
Thomas MG...Gottlob I
|
24688117
|
2014 |
| 10 |
A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.
4
|
Watkins RJ...Shackleton S
|
23406872
|
2013 |
| 11 |
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.
4
|
Thomas MG...Gottlob I
|
21303855
|
2011 |
| 12 |
Expression and localization of FRMD7 in human fetal brain, and a role for F-actin.
4
|
Pu J...Zhang B
|
21386928
|
2011 |
| 13 |
Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.
4
|
Fingert JH...Stone E
|
20450309
|
2010 |
| 14 |
The prevalence of nystagmus: the Leicestershire nystagmus survey.
4
|
Sarvananthan N...Gottlob I
|
19458336
|
2009 |
| 15 |
Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.
4
|
Thomas S...Gottlob I
|
18372314
|
2008 |
| 16 |
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
4
|
He X...Ma X
|
18246032
|
2008 |
| 17 |
Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.
4
|
Kaplan Y...Akarsu NA
|
17962394
|
2008 |
| 18 |
Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.
4
|
Zhang B...Xia J
|
17893669
|
2007 |
| 19 |
Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.
4
|
Self JE...Lotery AJ
|
17846367
|
2007 |
| 20 |
FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.
4
|
Zhang Q...Guo X
|
17768376
|
2007 |
| 21 |
Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.
4
|
Schorderet DF...Munier FL
|
17397053
|
2007 |
| 22 |
Congenital nystagmus: randomized, controlled, double-masked trial of memantine/gabapentin.
4
|
McLean R...Gottlob I
|
17279539
|
2007 |
| 23 |
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
4
|
Tarpey P...Gottlob I
|
17013395
|
2006 |
| 24 |
The effects of gabapentin and memantine in acquired and congenital nystagmus: a retrospective study.
4
|
Shery T...Gottlob I
|
16556621
|
2006 |
| 25 |
Autosomal dominant congenital nystagmus is not linked to 6p12, 7p11, and 15q11 in a German family.
4
|
Hoffmann S...Hemmer B
|
15364228
|
2004 |
| 26 |
Horizontal rectus tenotomy in patients with congenital nystagmus: results in 10 adults.
4
|
Hertle RW...Mellow SD
|
14597515
|
2003 |
| 27 |
Clinical and ocular motor analysis of the infantile nystagmus syndrome in the first 6 months of life.
4
|
Hertle RW...Yang D
|
12034691
|
2002 |
| 28 |
Development of new treatments for congenital nystagmus.
4
|
Dell'Osso LF
|
11960819
|
2002 |
| 29 |
Nystagmus.
4
|
Gottlob I
|
11148698
|
2000 |
| 30 |
Congenital motor nystagmus linked to Xq26-q27.
4
|
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.
4
|
Klein C...Ozelius L
|
9806847
|
1998 |
| 32 |
Infantile nystagmus. Development documented by eye movement recordings.
4
|
Gottlob I
|
9071231
|
1997 |
| 33 |
FRMD7-Related Infantile Nystagmus
38
|
Thomas MG...Gottlob I
|
20301748
|
2009 |
