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Ophthalmic Genetics Volume 22, 2001 - Issue 4
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Research Article

Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1)

John B. Kerrison Wilmer Ophthalmological Institute, Johns Hopkins Hospital, Baltimore, MD
,
Roberto Giorda Wilmer Ophthalmological Institute, Johns Hopkins Hospital, Baltimore, MD
,
Thomas D. Lenart Wilmer Ophthalmological Institute, Johns Hopkins Hospital, Baltimore, MD
,
Arlene V. Drack Wilmer Ophthalmological Institute, Johns Hopkins Hospital, Baltimore, MD
&
Irene H. Maumenee Wilmer Ophthalmological Institute, Johns Hopkins Hospital, Baltimore, MD
Pages 241-248 | Published online: 08 Jul 2009

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Read on this site (5)

Morgan Bertsch, Michael Floyd, Taylor Kehoe, Wanda Pfeifer & Arlene V. Drack. (2017) The clinical evaluation of infantile nystagmus: What to do first and why. Ophthalmic Genetics 38:1, pages 22-33.
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James Self & Andrew Lotery. (2007) A Review of the Molecular Genetics of Congenital Idiopathic Nystagmus (CIN). Ophthalmic Genetics 28:4, pages 187-191.
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James Self & Andrew Lotery. (2006) The Molecular Genetics of Congenital Idiopathic Nystagmus. Seminars in Ophthalmology 21:2, pages 87-90.
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R. John Leigh & Sangeeta Khanna. (2006) What Can Acquired Nystagmus Tell Us About Congenital Forms of Nystagmus?. Seminars in Ophthalmology 21:2, pages 83-86.
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Richard W. Hertle, Dongsheng Yang, Kristopher Kelly, Vanessa M. Hill, Joan Atkin & Allison Seward. (2005) X-Linked Infantile Periodic Alternating Nystagmus. Ophthalmic Genetics 26:2, pages 77-84.
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Articles from other publishers (21)

Daniel J. Salchow. (2023) Nystagmus bei Kindern – eine Übersicht. Klinische Monatsblätter für Augenheilkunde 240:04, pages 617-635.
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Wenmin Sun, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J. Fielding Hejtmancik, Xueshan Xiao & Qingjiong Zhang. (2020) Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families. Human Genetics 139:8, pages 1057-1064.
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Shan Wu, Sheng Deng, Zhi Song, Hongbo Xu, Zhijian Yang, Xin Liu, Li Qi, Hao Deng & Lamei Yuan. (2019) A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus. Journal of Molecular Neuroscience 67:3, pages 418-423.
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Zhe Wang, Min Wang, Chengyan Wang & Boyang Lu. (2018) Identification and functional characterization of a novel missense mutation in responsible for idiopathic congenital nystagmus. Acta Biochimica et Biophysica Sinica 51:2, pages 178-184.
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Haein Bak, Sangwon Lee, Dan A Oh & Cindy W Yoon. (2018) Congenital Nystagmus in Turner Syndrome. Journal of the Korean Neurological Association 36:1, pages 52-54.
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Ebru Demet Aygit, Osman Bulut Ocak, Aslı İnal, Korhan Fazıl, Serpil Akar & Birsen Gokyigit. (2017) The effects of topical carbonic anhydrase inhibitor in treatment of nystagmus. International Ophthalmology.
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M. Ahmadvand, M. Mashhadikhan, Y. Shafaqati & M. Norouzinia. (2017) A new mutation of FRMD7gene in X-linked congenital nystagmus in an Iranian family. Sarem Journal of Reproductive Medicine 2:1, pages 13-18.
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Eleni Papageorgiou, Rebecca J. McLean & Irene Gottlob. (2014) Nystagmus in Childhood. Pediatrics & Neonatology 55:5, pages 341-351.
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Nan Deng, Fan Tang, Yongjia Yang, Yuxiang Chen & Weihong Zou. (2014) Mapping the disease gene in two congenital motor nystagmus families. Clinical & Experimental Ophthalmology 42:1, pages 94-96.
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Patrick J.M. Lavin. 2012. Neurology in Clinical Practice. Neurology in Clinical Practice 587 633 .
Lawrence E. Leguire, Nasser H. Kashou, Nick Fogt, Mark A. Smith, Jennifer R. Lewis, Robert Kulwin & Gary L. Rogers. (2011) Neural Circuit Involved in Idiopathic Infantile Nystagmus Syndrome Based on fMRI. Journal of Pediatric Ophthalmology & Strabismus 48:6, pages 347-356.
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Louis F Dell'Osso, Richard W Hertle, R John Leigh, Jonathan B Jacobs, Susan King & Stacia Yaniglos. (2011) Effects of Topical Brinzolamide on Infantile Nystagmus Syndrome Waveforms: Eyedrops for Nystagmus. Journal of Neuro-Ophthalmology 31:3, pages 228-233.
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Matthew J. Thurtell & R. John Leigh. 2011. Neuro-ophthalmology. Neuro-ophthalmology 333 378 .
Hiroko Kosaki. (2010) A case of congenital anidiria. Equilibrium Research 69:2, pages 76-79.
Crossref
Frank Proudlock & Irene Gottlob. 2010. Ocular Disease. Ocular Disease 344 356 .
Madhura A. Tamhankar & Grant T. Liu. 2008. Albert &amp Jakobiec's Principles &amp Practice of Ophthalmology. Albert &amp Jakobiec's Principles &amp Practice of Ophthalmology 4277 4300 .
Patrick Tarpey, Shery Thomas, Nagini Sarvananthan, Uma Mallya, Steven Lisgo, Chris J Talbot, Eryl O Roberts, Musarat Awan, Mylvaganam Surendran, Rebecca J McLean, Robert D Reinecke, Andrea Langmann, Susanne Lindner, Martina Koch, Sunila Jain, Geoffrey Woodruff, Richard P Gale, Andrew Bastawrous, Chris Degg, Konstantinos Droutsas, Ioannis Asproudis, Alina A Zubcov, Christina Pieh, Colin D Veal, Rajiv D Machado, Oliver C Backhouse, Laura Baumber, Cris S Constantinescu, Michael C Brodsky, David G Hunter, Richard W Hertle, Randy J Read, Sarah Edkins, Sarah O'Meara, Adrian Parker, Claire Stevens, Jon Teague, Richard Wooster, P Andrew Futreal, Richard C Trembath, Michael R Stratton, F Lucy Raymond & Irene Gottlob. (2006) Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nature Genetics 38:11, pages 1242-1244.
Crossref
Xiangming Guo, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Panfeng Wang & Qingjiong Zhang. (2005) Linkage analysis of two families with X-linked recessive congenital motor nystagmus. Journal of Human Genetics 51:1, pages 76-80.
Crossref
Arlene V. Drack & Alan E. Kimura. 2006. Handbook of Pediatric Retinal Disease. Handbook of Pediatric Retinal Disease 135 177 .
Baorong Zhang, Kun Xia, Meiping Ding, Desheng Liang, Zhirong Liu, Qian Pan, Zhengmao Hu, Ling-qian Wu, Fang Cai & Jiahui Xia. (2004) Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family. Human Genetics 116:1-2, pages 128-131.
Crossref
Arlene V. Drack & Alan E. Kimura. 2003. Pediatric Ophthalmology and Strabismus. Pediatric Ophthalmology and Strabismus 539 555 .

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