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
Differences of ocular oscillations and neuro-retinal structures in patients with nystagmus caused by GPR143 and FRMD7 gene variants.
Huang L et al.
Indian Journal of Ophthalmology, 2024
Correlations of FRMD7 gene mutations with ocular oscillations.
Huang L et al.
Scientific Reports, 2022
Prospective study of pediatric patients presenting with idiopathic infantile nystagmus-Management and molecular diagnostics.
Aychoua N et al.
Frontiers in Genetics, 2022
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
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins.
Sawada J et al.
Internal Medicine (tokyo, Japan), 2020
Stable cell lines of human SH-SY5Y uniformly expressing wild-type or mutant-type FERM domain containing 7 gene.
Pu J et al.
Experimental and Therapeutic Medicine, 2017
A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus.
Choi JH et al.
Scientific Reports, 2015
Abnormal retinal development associated with FRMD7 mutations.
Thomas MG et al.
Human Molecular Genetics, 2014
Heterogeneous phenotype in a family with the FERM domain-containing 7 gene R335X mutation.
Guo Y et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2014
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
FERM domain containing protein 7 interacts with the Rho GDP dissociation inhibitor and specifically activates Rac1 signaling.
Pu J et al.
Plos One, 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
Expression and localization of FRMD7 in human fetal brain, and a role for F-actin.
Pu J et al.
Molecular Vision, 2011
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
Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.
Zhang B et al.
Molecular Vision, 2007
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
Tarpey P et al.
Nature Genetics, 2006