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X-Linked Infantile Nystagmus

Known as: Idiopathic Infantile Nystagmus, Frmd7-Related Infantile Nystagmus, Congenital Motor Nystagmus 
National Institutes of Health

Related topics

Related topics

4 relations

Broader (3)

Congenital nystagmusFixation nystagmusGenetic Diseases, X-Linked
Nystagmus 1, congenital, X- linked

Papers overview

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Highly Cited
2013
Highly Cited
2013
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation
Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM… 
Highly Cited
2011
Highly Cited
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… 
Highly Cited
2011
Highly Cited
2011
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.
Periodic alternating nystagmus consists of involuntary oscillations of the eyes with cyclical changes of nystagmus direction. It… 
Highly Cited
2010
Highly Cited
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… 
Highly Cited
2007
Highly Cited
2007
Novel mutations in FRMD7 in X‐linked congenital nystagmus
Congenital nystagmus is an eye movement disorder in which one or both eyes are in constant movement. It can be associated with a… 
2007
2007
X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.
PURPOSE Infantile nystagmus is a clinically and genetically heterogeneous eye movement disorder. Here we map and identify the… 
Highly Cited
1999
Highly Cited
1999
Congenital motor nystagmus linked to Xq26-q27.
Congenital motor nystagmus (CMN) is a hereditary disorder characterized by bilateral ocular oscillations that begin in the first… 
Highly Cited
1999
Highly Cited
1999
A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.
Congenital nystagmus (CN) is a common oculomotor disorder (frequency of 1/1,500 live births) characterized by bilateral… 
Highly Cited
1991
Highly Cited
1991
Large recession of the horizontal recti for treatment of nystagmus.
Highly Cited
1971
Highly Cited
1971
Nystatin-Resistant Mutants of Yeast: Alterations in Sterol Content
Mutants of the genes nys1 and nys3 differ from sensitive strains (nys+) in their sterol content. Ultraviolet absorption spectra… 
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