Associated Papers
Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review.
Liu S et al.
Investigative Ophthalmology & Visual Science, 2026
41532703 (PubMed )
Supplement: iovs-67-1-30_s006.xlsx › S1
X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review.
Liu F et al.
Frontiers in Ophthalmology, 2022
Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus.
Wang XF et al.
Frontiers in Cell and Developmental Biology, 2021
33732697 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Abnormal retinal development associated with FRMD7 mutations.
Thomas MG et al.
Human Molecular Genetics, 2014
24688117 (PubMed )
Supplement: supp_ddu122_ddu122supp_table2.pdf
Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus.
Song FW et al.
Journal of Zhejiang University. Science. B, 2013
A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.
Watkins RJ et al.
Human Molecular Genetics, 2013
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.
Radhakrishna U et al.
European Journal of Human Genetics : Ejhg, 2012
The Role of FRMD7 in Idiopathic Infantile Nystagmus.
Watkins RJ et al.
Journal of Ophthalmology, 2012
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.
Thomas MG et al.
Brain : a Journal of Neurology, 2011
Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus.
Li N et al.
Molecular Vision, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeI-_
A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.
He X et al.
Genetic Testing, 2008
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
He X et al.
Molecular Vision, 2008
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
Tarpey P et al.
Nature Genetics, 2006
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