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FRMD7 gene
Known as:
FRMD7
, FLJ43346
, FERM domain containing 7
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National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Stable cell lines of human SH-SY5Y uniformly expressing wild-type or mutant-type FERM domain containing 7 gene.
J. Pu
,
Yan-fang Mao
,
Lingjia Xu
,
Tingting Zheng
,
Baorong Zhang
Experimental and Therapeutic Medicine
2017
Corpus ID: 2807249
It has been reported that FERM domain containing 7 (FRMD7) may cause X-linked idiopathic congenital nystagmus (ICN). A total of…
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2015
2015
Congenital nystagmus and central hypothyroidism
N. Reynaert
,
E. Braat
,
F. de Zegher
International Journal of Pediatric Endocrinology
2015
Corpus ID: 30073747
We observed a male newborn with bilateral nystagmus and central hypothyroidism without hypoprolactinemia due to a deletion of…
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2015
2015
A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family
Shashank Gupta
,
Ekta Pathak
,
+5 authors
M. Mutsuddi
Neuroscience Letters
2015
Corpus ID: 31362634
2013
2013
A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family
Zhi-rong Liu
,
Shanying Mao
,
J. Pu
,
Yao Ding
,
Baorong Zhang
,
Meiping Ding
Molecular Vision
2013
Corpus ID: 18147927
Purpose: Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous disease. Thus far, the disease gene has been…
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2013
2013
A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus
R. Watkins
,
R. Patil
,
B. Goult
,
M. Thomas
,
I. Gottlob
,
S. Shackleton
Human Molecular Genetics
2013
Corpus ID: 15815756
Idiopathic infantile nystagmus (IIN) is a genetically heterogeneous disorder of eye movement that can be caused by mutations in…
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2011
2011
Expression and localization of FRMD7 in human fetal brain, and a role for F-actin
J. Pu
,
Yingzhi Li
,
+4 authors
Baorong Zhang
Molecular Vision
2011
Corpus ID: 8381751
Purpose FERM domain containing 7 (FRMD7) is a member of the four-point-one, ezrin, radixin, moesin (FERM) family of proteins, and…
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2010
2010
Frmd7 expression in developing mouse brain
J. Self
,
H. Haitchi
,
H. Griffiths
,
S. Holgate
,
D. Davies
,
A. Lotery
Eye
2010
Corpus ID: 23546467
AimsMutations in the FERM domain containing 7 (FRMD7) genes are known to cause a significant number of cases of congenital…
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2009
2009
Ferm Domain Containing 7 (frmd7) Expression in Developing Murine Tissues
T. Preston
,
J. Self
,
H. Haitchi
,
Xiaoli Chen
,
A. Lotery
2009
Corpus ID: 83040213
Highly Cited
2008
Highly Cited
2008
Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.
Shery Thomas
,
F. Proudlock
,
+16 authors
I. Gottlob
Brain : a journal of neurology
2008
Corpus ID: 3480015
Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X…
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2007
2007
FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.
Qingjiong Zhang
,
X. Xiao
,
Shi-qiang Li
,
Xiangming Guo
Molecular Vision
2007
Corpus ID: 24057351
PURPOSE To identify mutations causing X-linked congenital motor nystagmus (XL-CMN) in Chinese families. METHODS Genomic DNA was…
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