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FRMD7 gene

Known as: FRMD7, FLJ43346, FERM domain containing 7 
 
National Institutes of Health

Papers overview

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2017
2017
Stable cell lines of human SH-SY5Y uniformly expressing wild-type or mutant-type FERM domain containing 7 gene.
It has been reported that FERM domain containing 7 (FRMD7) may cause X-linked idiopathic congenital nystagmus (ICN). A total of… Expand
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2015
2015
A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family
Idiopathic congenital nystagmus (ICN) is the most common form of oculomotor disorder characterized by involuntary bilateral… Expand
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2015
2015
Congenital nystagmus and central hypothyroidism
We observed a male newborn with bilateral nystagmus and central hypothyroidism without hypoprolactinemia due to a deletion of… Expand
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2013
2013
A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family
Purpose: Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous disease. Thus far, the disease gene has been… Expand
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2013
2013
A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus
Idiopathic infantile nystagmus (IIN) is a genetically heterogeneous disorder of eye movement that can be caused by mutations in… Expand
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2011
2011
Expression and localization of FRMD7 in human fetal brain, and a role for F-actin
Purpose FERM domain containing 7 (FRMD7) is a member of the four-point-one, ezrin, radixin, moesin (FERM) family of proteins, and… Expand
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2010
2010
Frmd7 expression in developing mouse brain
AimsMutations in the FERM domain containing 7 (FRMD7) genes are known to cause a significant number of cases of congenital… Expand
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2009
2009
Ferm Domain Containing 7 (frmd7) Expression in Developing Murine Tissues
 
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2008
2008
Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.
Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X… Expand
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2007
2007
FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.
PURPOSE To identify mutations causing X-linked congenital motor nystagmus (XL-CMN) in Chinese families. METHODS Genomic DNA was… Expand
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