Correlations of FRMD7 gene mutations with ocular oscillations
L Huang, Y Zhou, W Chen, P Lin, Y Xie, K He… - Scientific Reports, 2022 - nature.com
Mutations in the FERM domain containing 7 (FRMD7) gene have been proven to be
responsible for infantile nystagmus (IN). The purpose of this study is to investigate FRMD7 …
responsible for infantile nystagmus (IN). The purpose of this study is to investigate FRMD7 …
FRMD7 Gene Alterations in a Pakistani Family Associated with Congenital Idiopathic Nystagmus
Congenital idiopathic nystagmus (CIN) is an oculomotor disorder characterized by repetitive
and rapid involuntary movement of the eye that usually develops in the first six months after …
and rapid involuntary movement of the eye that usually develops in the first six months after …
Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications
Y Su, J Zhang, J Gao, G Ding, H Jiang, Y Liu, Y Li… - BMC Medical …, 2024 - Springer
Idiopathic congenital nystagmus (ICN) manifests as involuntary and periodic eye
movements. To identify the genetic defect associated with X-linked ICN, Whole Exome …
movements. To identify the genetic defect associated with X-linked ICN, Whole Exome …
A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus
Idiopathic infantile nystagmus (IIN) is the involuntary oscillation of the eyes with onset in the
first few months of life. The most common form of inheritance is X-linked and mutations in …
first few months of life. The most common form of inheritance is X-linked and mutations in …
Next‐generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus
F Wang, H Guan, W Liu, G Zhao… - Journal of clinical …, 2020 - Wiley Online Library
Background Idiopathic infantile nystagmus (IIN) is a high genetically heterogeneous
ophthalmic disease and is often associated with pathogenic mutations in FRMD7 and …
ophthalmic disease and is often associated with pathogenic mutations in FRMD7 and …
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
J Chen, Y Wei, L Tian, X Kang - BMC Medical Genetics, 2019 - Springer
Background Infantile nystagmus (IN) is an oculomotor disorder that is characterized by
conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis …
conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis …
Identification and functional characterization of a novel missense mutation in FRMD7 responsible for idiopathic congenital nystagmus
Z Wang, M Wang, C Wang, B Lu - Acta biochimica et biophysica …, 2019 - academic.oup.com
Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement
disorder which seriously reduces childhood visual acuity. X-linked inheritance is the most …
disorder which seriously reduces childhood visual acuity. X-linked inheritance is the most …
Identification of a novel idiopathic congenital nystagmus‑causing missense mutation, p. G296C, in the FRMD7 gene
Y Xiu, Y Yao, T Yang, M Pan… - Molecular …, 2018 - spandidos-publications.com
Exploring the genetic basis for idiopathic congenital nystagmus is critical for improving our
understanding of its molecular pathogenesis. In the present study, direct sequencing using …
understanding of its molecular pathogenesis. In the present study, direct sequencing using …
[PDF][PDF] FRMD7 基因所致X 连锁特发性先天性眼球震颤的研究进展
YKX Bao - cdn.amegroups.cn
特发性先天性眼球震颤(idiopathic congenital nystagmus, ICN) 是一种常见的眼科疾病,
患者常有明显的特征性的眼部异常, 多伴有学习, 社交障碍, 对其身心健康影响较大. ICN …
患者常有明显的特征性的眼部异常, 多伴有学习, 社交障碍, 对其身心健康影响较大. ICN …
Two novel FRMD7 frameshift mutation identified in two Chinese pedigrees with congenital nystagmus as producing truncated proteins
Y Su, J Zhang, J Gao, G Ding, H Jiang, Y Liu, Y Li… - 2023 - researchsquare.com
Idiopathic congenital nystagmus (ICN) is a condition characterized by involuntary and
periodic eye movements. To identify the genetic defect associated with X-linked ICN, we …
periodic eye movements. To identify the genetic defect associated with X-linked ICN, we …