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Select item 108118071.

Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications

Yuqing Su, Juntao Zhang, Jiahui Gao, Guoqing Ding, Heng Jiang, Yang Liu, Yulei Li, Guohua Yang

BMC Med Genomics. 2024; 17: 36. Published online 2024 Jan 26. doi: 10.1186/s12920-024-01817-7

PMCID:: PMC10811807

Abstract Article PDF–3.7M

Select item 107842122.

GPR143 mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China

Jingling Xu, Yihan Zheng, Lulu Cheng, Huihui Sun, Xinping Yu, Feng Gu, E Song

Mol Vis. 2023; 29: 234–244. Published online 2023 Nov 1.

PMCID:: PMC10784212

Abstract Article PDF–845K

Select item 105215263.

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families

Feiyin Zi, Zhen Li, Wanyu Cheng, Xiaoyu Huang, Xunlun Sheng, Weining Rong

BMC Med Genomics. 2023; 16: 223. Published online 2023 Sep 25. doi: 10.1186/s12920-023-01665-x

PMCID:: PMC10521526

Abstract Article PDF–1.8M

Select item 99571794.

FRMD7 Gene Alterations in a Pakistani Family Associated with Congenital Idiopathic Nystagmus

Muhammad Waqar Arshad, Muhammad Imran Shabbir, Saaim Asif, Mohsin Shahzad, Larissa Leydier, Sunil Kumar Rai

Genes (Basel) 2023 Feb; 14(2): 346. Published online 2023 Jan 29. doi: 10.3390/genes14020346

PMCID:: PMC9957179

Abstract Article PDF–1.4M

Select item 97968815.

Infantile nystagmus without overt eye abnormality: Early features and neuro‐ophthalmological diagnosis

Agnese Suppiej, Chiara Ceccato, Valentina Lonardi, Maria E. Reffo

Dev Med Child Neurol. 2022 Dec; 64(12): 1532–1538. Published online 2022 May 29. doi: 10.1111/dmcn.15284

PMCID:: PMC9796881

Abstract Article PDF–1.5M

Select item 92517926.

Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus

Junwon Lee, Han Jeong, Dongju Won, Saeam Shin, Seung-Tae Lee, Jong Rak Choi, Suk Ho Byeon, Helen J. Kuht, Mervyn G. Thomas, Jinu Han

Transl Vis Sci Technol. 2022 Jun; 11(6): 25. Published online 2022 Jun 28. doi: 10.1167/tvst.11.6.25

PMCID:: PMC9251792

Abstract Article PDF–2.0M

Select item 92007817.

Correlations of FRMD7 gene mutations with ocular oscillations

Lijuan Huang, Yunyu Zhou, Wencong Chen, Ping Lin, Yan Xie, Kaiwen He, Shasha Zhang, Yuyu Wu, Ningdong Li

Sci Rep. 2022; 12: 9914. Published online 2022 Jun 15. doi: 10.1038/s41598-022-14144-7

PMCID:: PMC9200781

Abstract Article PDF–1.3M

Select item 84321708.

Molecular diagnostic challenges for non‐retinal developmental eye disorders in the United Kingdom

Daniel Jackson, Samantha Malka, Philippa Harding, Juliana Palma, Hannah Dunbar, Mariya Moosajee

Am J Med Genet C Semin Med Genet. 2020 Sep; 184(3): 578–589. Published online 2020 Aug 23. doi: 10.1002/ajmg.c.31837

PMCID:: PMC8432170

Abstract Article PDF–1.7M

Select item 76015959.

Characterization of the Frmd7 Knock-Out Mice Generated by the EUCOMM/COMP Repository as a Model for Idiopathic Infantile Nystagmus (IIN)

Ahmed Salman, Samuel B. Hutton, Tutte Newall, Jennifer A. Scott, Helen L. Griffiths, Helena Lee, Diego Gomez-Nicola, Andrew J. Lotery, Jay E. Self

Genes (Basel) 2020 Oct; 11(10): 1157. Published online 2020 Sep 30. doi: 10.3390/genes11101157

PMCID:: PMC7601595

Abstract Article PDF–4.0M

Select item 740653110.

Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families

Wenmin Sun, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J. Fielding Hejtmancik, Xueshan Xiao, Qingjiong Zhang

Hum Genet. 2020; 139(8): 1057–1064. Published online 2020 Apr 4. doi: 10.1007/s00439-020-02156-0

PMCID:: PMC7406531

Abstract Article PDF–1.0M

Select item 740578211.

FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome

Lei Jiang, Yulei Li, Kangjuan Yang, Yuping Wang, Jiuxiang Wang, Xiaoniu Cui, Jinglin Mao, Yong Gao, Ping Yi, Lejin Wang, Jing Yu Liu

Invest Ophthalmol Vis Sci. 2020 May; 61(5): 41. Published online 2020 May 23. doi: 10.1167/iovs.61.5.41

PMCID:: PMC7405782

Abstract Article PDF–2.4M

Select item 697713612.

Next‐generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus

Fengqi Wang, Hongzai Guan, Wenmiao Liu, Guiqiu Zhao, Shiguo Liu

J Clin Lab Anal. 2020 Jan; 34(1): e23012. Published online 2019 Sep 8. doi: 10.1002/jcla.23012

PMCID:: PMC6977136

Abstract Article PDF–724K

Select item 690886613.

Jiali Pu, Shaobing Dai, Ting Gao, Jing Hu, Yi Fang, Ran Zheng, Chongyao Jin, Baorong Zhang

Brain Behav. 2019 Dec; 9(12): e01473. Published online 2019 Nov 19. doi: 10.1002/brb3.1473

PMCID:: PMC6908866

Abstract Article PDF–1.4M

Select item 674444614.

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

Luke O’Gorman, Chelsea S. Norman, Luke Michaels, Tutte Newall, Andrew H. Crosby, Christopher Mattocks, Angela J. Cree, Andrew J. Lotery, Emma L. Baple, J. Arjuna Ratnayaka, Diana Baralle, Helena Lee, Daniel Osborne, Fatima Shawkat, Jane Gibson, Sarah Ennis, Jay E. Self

Sci Rep. 2019; 9: 13229. Published online 2019 Sep 13. doi: 10.1038/s41598-019-49368-7