FAQ

FRMD7 gene

Known as: FRMD7, FLJ43346, FERM domain containing 7 
 

Topic mentions per year

Topic mentions per year

2007-2017
012320072017

Papers overview

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2012
2012
The Role of FRMD7 in Idiopathic Infantile Nystagmus
Idiopathic infantile nystagmus (IIN) is an inherited disorder in which the nystagmus arises independently of any other symptoms… (More)
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2012
2012
FERM domain containing protein 7 (FRMD7) upregulates the expression of neuronal cytoskeletal proteins and promotes neurite outgrowth in Neuro-2a cells
PURPOSE Mutations of the FERM domain containing protein 7 gene (FRMD7) are associated with X-linked idiopathic congenital… (More)
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2011
2011
Clinical and oculomotor characteristics of albinism compared to FRMD7 associated infantile nystagmus.
PURPOSE Previous studies have found no difference between nystagmus characteristics associated with idiopathic infantile… (More)
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2011
2011
Identification of a novel FRMD7 splice variant and functional analysis of two FRMD7 transcripts during human NT2 cell differentiation
PURPOSE FERM domain containing protein 7 (FRMD7) mutations are associated with X-linked idiopathic congenital nystagmus (ICN… (More)
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2011
2011
A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family
PURPOSE To screen mutations in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked idiopathic congenital… (More)
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2010
2010
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development.
Mutations in the gene encoding FERM domain-containing 7 protein (FRMD7) are recognized as an important cause of X-linked… (More)
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2010
2010
Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.
OBJECTIVE To identify the disease-causing mutation in a large 3 generation pedigree of X-linked congenital nystagmus. METHODS… (More)
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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… (More)
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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… (More)
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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… (More)
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