PMC Articles for MedGen (Select 375583) - PMC

Select item 23930491.

Localization of CS and non-CS antigens in the sporogonic stages of Plasmodium yoelii.

M. Aikawa, C. T. Atkinson, L. M. Beaudoin, M. Sedegah, Y. Charoenvit, R. Beaudoin

Bull World Health Organ. 1990; 68 (Suppl): 165–171.

PMCID:: PMC2393049

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Select item 2603812.

Characterization of Plasmodium yoelii monoclonal antibodies directed against stage-specific sporozoite antigens.

Y Charoenvit, M F Leef, L F Yuan, M Sedegah, R L Beaudoin

Infect Immun. 1987 Mar; 55(3): 604–608. doi: 10.1128/iai.55.3.604-608.1987

PMCID:: PMC260381

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Select item 17713043.

Motor and sensory characteristics of infantile nystagmus

R V Abadi, A Bjerre

Br J Ophthalmol. 2002 Oct; 86(10): 1152–1160. doi: 10.1136/bjo.86.10.1152

PMCID:: PMC1771304

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Select item 81770914.

Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management

Xiaowan Ma, Ke Ning, Sayena Jabbehdari, Philipp P. Prosseda, Yang Hu, Ann Shue, Scott R. Lambert, Yang Sun

Eur J Ophthalmol. Author manuscript; available in PMC 2021 Jun 4.

Published in final edited form as: Eur J Ophthalmol. 2020 Sep; 30(5): 966–973. Published online 2020 Apr 27. doi: 10.1177/1120672120920544

PMCID:: PMC8177091

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Select item 74057825.

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

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Select item 63237106.

A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family

Junjue Chen, Yan Wei, Linlu Tian, Xiaoli Kang

BMC Med Genet. 2019; 20: 5. Published online 2019 Jan 7. doi: 10.1186/s12881-018-0720-8

PMCID:: PMC6323710

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Select item 58768507.

Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children

Virginia Miraldi Utz, Wanda Pfeifer, Susannah Q. Longmuir, Richard John Olson, Kai Wang, Arlene V. Drack

JAMA Ophthalmol. 2018 Apr; 136(4): 389–398. Published online 2018 Mar 8. doi: 10.1001/jamaophthalmol.2018.0185

PMCID:: PMC5876850

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Select item 57578528.

Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy

Wen-Tao Deng, Jie Li, Ping Zhu, Vince A. Chiodo, W. Clay Smith, Beau Freedman, Wolfgang Baehr, Jijing Pang, William W. Hauswirth

Mol Vis. 2018; 24: 17–28. Published online 2018 Jan 8.

PMCID:: PMC5757852

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Select item 56405189.

The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA

Clara J. Men, Kinga M. Bujakowska, Jason Comander, Emily Place, Emma C. Bedoukian, Xiaosong Zhu, Bart P. Leroy, Anne B. Fulton, Eric A. Pierce

Mol Vis. 2017; 23: 695–706. Published online 2017 Oct 10.

PMCID:: PMC5640518

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Select item 486791010.

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

Ajoy Vincent, Isabelle Audo, Erika Tavares, Jason T. Maynes, Anupreet Tumber, Thomas Wright, Shuning Li, Christelle Michiels, GNB3 Consortium, Christel Condroyer, Heather MacDonald, Robert Verdet, José-Alain Sahel, Christian P. Hamel, Christina Zeitz, Elise Héon

Am J Hum Genet. 2016 May 5; 98(5): 1011–1019. Published online 2016 Apr 7. doi: 10.1016/j.ajhg.2016.03.021

PMCID:: PMC4867910

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Select item 482345011.

Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus

Hui Zhao, Xiu-Feng Huang, Zhi-Li Zheng, Wen-Li Deng, Xin-Lan Lei, Dong-Jun Xing, Liang Ye, Su-Zhong Xu, Jie Chen, Fang Zhang, Xin-Ping Yu, Zi-Bing Jin

BMJ Open. 2016; 6(4): e010649. Published online 2016 Apr 1. doi: 10.1136/bmjopen-2015-010649

PMCID:: PMC4823450

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Select item 453476112.

A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus

Jae-Hwan Choi, Jin-Hong Shin, Je Hyun Seo, Jae-Ho Jung, Kwang-Dong Choi

Sci Rep. 2015; 5: 13003. Published online 2015 Aug 13. doi: 10.1038/srep13003

PMCID:: PMC4534761

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Select item 449822013.

GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus

Ruifang Han, Xiaojuan Wang, Dongjie Wang, Liming Wang, Zhongfang Yuan, Ming Ying, Ningdong Li

Sci Rep. 2015; 5: 12031. Published online 2015 Jul 10. doi: 10.1038/srep12031

PMCID:: PMC4498220

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Select item 412562014.

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

Mervyn G. Thomas, Moira Crosier, Susan Lindsay, Anil Kumar, Shery Thomas, Masasuke Araki, Chris J. Talbot, Rebecca J. McLean, Mylvaganam Surendran, Katie Taylor, Bart P. Leroy, Anthony T. Moore, David G. Hunter, Richard W. Hertle, Patrick Tarpey, Andrea Langmann, Susanne Lindner, Martina Brandner, Irene Gottlob

Brain. 2011 Mar; 134(3): 892–902. Published online 2011 Feb 8. doi: 10.1093/brain/awq373

PMCID:: PMC4125620

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Select item 368216315.

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

Feng-wei Song, Bin-bin Chen, Zhao-hui Sun, Li-ping Wu, Su-juan Zhao, Qi Miao, Xia-jing Tang

J Zhejiang Univ Sci B. 2013 Jun; 14(6): 479–486. doi: 10.1631/jzus.B1200259

Correction in:: J Zhejiang Univ Sci B. 2013 Sep; 14(9): 866.

PMCID:: PMC3682163

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Select item 320943416.

A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family

Wei Du, Juan Bu, Jiamei Dong, Yanlei Jia, Jing Li, Chen Liang, Shancheng Si, Lejin Wang

Mol Vis. 2011; 17: 2765–2768. Published online 2011 Oct 22.

PMCID:: PMC3209434

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Select item 306015617.

A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus

Junjie Hu, Desheng Liang, Jinjie Xue, Jing Liu, Lingqian Wu

Mol Vis. 2011; 17: 715–722. Published online 2011 Mar 12.

PMCID:: PMC3060156

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Select item 298732118.

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

Anna Hackett, Patrick S Tarpey, Andrea Licata, James Cox, Annabel Whibley, Jackie Boyle, Carolyn Rogers, John Grigg, Michael Partington, Roger E Stevenson, John Tolmie, John RW Yates, Gillian Turner, Meredith Wilson, Andrew P Futreal, Mark Corbett, Marie Shaw, Jozef Gecz, F Lucy Raymond, Michael R Stratton, Charles E Schwartz, Fatima E Abidi

Eur J Hum Genet. 2010 May; 18(5): 544–552. Published online 2009 Dec 23. doi: 10.1038/ejhg.2009.220

Correction in:: Eur J Hum Genet. 2010 May; 18(5): 552.

PMCID:: PMC2987321

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Select item 122611119.

Null RPGRIP1 Alleles in Patients with Leber Congenital Amaurosis

Thaddeus P. Dryja, Scott M. Adams, Jonna L. Grimsby, Terri L. McGee, Dong-Hyun Hong, Tiansen Li, Sten Andréasson, Eliot L. Berson

Am J Hum Genet. 2001 May; 68(5): 1295–1298. Published online 2001 Mar 29. doi: 10.1086/320113

PMCID:: PMC1226111

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Select item 14030620.

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

Valérie Faugère, Sylvie Tuffery-Giraud, Christian Hamel, Mireille Claustres

BMC Genet. 2003; 4: 1. Published online 2003 Jan 7. doi: 10.1186/1471-2156-4-1

PMCID:: PMC140306

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