Literature DB >> 27672609

A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus.

Ungsoo Samuel Kim1, Eunhae Cho2, Hyon J Kim3.   

Abstract

Entities:  

Year:  2016        PMID： 27672609      PMCID： PMC5028679          DOI： 10.18240/ijo.2016.09.25

Source DB:  PubMed          Journal:  Int J Ophthalmol        ISSN： 2222-3959            Impact factor:   1.779


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  17 in total

1.  A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.

Authors:  A Cabot; J M Rozet; S Gerber; I Perrault; D Ducroq; A Smahi; E Souied; A Munnich; J Kaplan
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

2.  Evidence of photoreceptor migration during early foveal development: a quantitative analysis of human fetal retinae.

Authors:  C Diaz-Araya; J M Provis
Journal:  Vis Neurosci       Date:  1992-06       Impact factor: 3.241

3.  Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography.

Authors:  Gabriel T Chong; Sina Farsiu; Sharon F Freedman; Neeru Sarin; Anjum F Koreishi; Joseph A Izatt; Cynthia A Toth
Journal:  Arch Ophthalmol       Date:  2009-01

4.  Multimodal fundus imaging in foveal hypoplasia: combined scanning laser ophthalmoscope imaging and spectral-domain optical coherence tomography.

Authors:  Peter Charbel Issa; Michael Foerl; Hans-Martin Helb; Hendrik P N Scholl; Frank G Holz
Journal:  Arch Ophthalmol       Date:  2008-10

5.  Clinical and oculomotor characteristics of albinism compared to FRMD7 associated infantile nystagmus.

Authors:  Anil Kumar; Irene Gottlob; Rebecca J McLean; Shery Thomas; Mervyn G Thomas; Frank A Proudlock
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-04-08       Impact factor: 4.799

6.  Clinical characteristics of high grade foveal hypoplasia.

Authors:  Kyung-Ah Park; Sei Yeul Oh
Journal:  Int Ophthalmol       Date:  2012-11-03       Impact factor: 2.031

7.  Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.

Authors:  Jing Yu Liu; Xiang Ren; Xiufeng Yang; Tangying Guo; Qi Yao; Lin Li; Xiaohua Dai; Mingchang Zhang; Lejin Wang; Mugen Liu; Qing K Wang
Journal:  J Hum Genet       Date:  2007-05-22       Impact factor: 3.172

8.  Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

Authors:  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
Journal:  Nat Genet       Date:  2006-10-01       Impact factor: 38.330

9.  A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism.

Authors:  Naihong Yan; Xuan Liao; Su-ping Cai; Changjun Lan; Yun Wang; Xiaomin Zhou; Yan Yin; Wenhan Yu; Xuyang Liu
Journal:  PLoS One       Date:  2012-08-20       Impact factor: 3.240

10.  A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus.

Authors:  Yuanyuan Peng; Yan Meng; Zheng Wang; Mei Qin; Xiaoqiao Li; Yan Dian; Shangzhi Huang
Journal:  Mol Vis       Date:  2009-04-22       Impact factor: 2.367
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  3 in total

1.  Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability.

Authors:  Jae-Ho Jung; Eun Hye Oh; Jin-Hong Shin; Hyang-Sook Kim; Seo Young Choi; Kwang-Dong Choi; Changwook Lee; Jae-Hwan Choi
Journal:  J Genet       Date:  2018-12       Impact factor: 1.166

2.  Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus.

Authors:  Xiao-Fang Wang; Hui Chen; Peng-Juan Huang; Zhuo-Kun Feng; Zi-Qi Hua; Xiang Feng; Fang Han; Xiao-Tao Xu; Ren-Juan Shen; Yang Li; Zi-Bing Jin; Huan-Yun Yu
Journal:  Front Cell Dev Biol       Date:  2021-02-19

3.  Prospective study of pediatric patients presenting with idiopathic infantile nystagmus-Management and molecular diagnostics.

Authors:  Nancy Aychoua; Elena Schiff; Samantha Malka; Vijay K Tailor; Hwei Wuen Chan; Ngozi Oluonye; Maria Theodorou; Mariya Moosajee
Journal:  Front Genet       Date:  2022-08-22       Impact factor: 4.772
  3 in total

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