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
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM4_ESM.xlsx › supp_data_1
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
Jiang Y et al.
Journal of Translational Medicine, 2024
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM4_ESM.xlsx › Supplementary-Table_1
Correlations of FRMD7 gene mutations with ocular oscillations.
Huang L et al.
Scientific Reports, 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
33732697 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.
AlMoallem B et al.
Investigative Ophthalmology & Visual Science, 2015
Abnormal retinal development associated with FRMD7 mutations.
Thomas MG et al.
Human Molecular Genetics, 2014
24688117 (PubMed )
Supplement: supp_ddu122_ddu122supp_table2.pdf
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
A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.
He X et al.
Genetic Testing, 2008
Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.
Li N et al.
Molecular Vision, 2008
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
He X et al.
Molecular Vision, 2008
Select a paper to view details