Japan Eye Genetics Consortium: National Cohort Survey and Whole Exome Sequencing Results of Cone-rod dystrophy

被引：0

作者：

Fujinami, Kaoru ^{[1
]}

Yoshitake, Kazutoshi ^{[2
]}

Hayashi, Takaaki ^{[3
]}

Ueno, Shinji ^{[4
]}

Mizota, Atsushi ^{[5
]}

Shinoda, Kei ^{[6
]}

Kuniyoshi, Kazuki ^{[7
]}

Kondo, Mineo ^{[8
]}

Kameya, Shuhei ^{[9
]}

Mochizuki, Kiyofumi ^{[10
]}

Miyake, Yozo ^{[11
]}

Iwata, Takeshi ^{[2
]}

Tsunoda, Kazushige ^{[12
]}

机构：

[1] UCL, UCL Inst Ophthalmol, Genet, London, England

[2] Natl Hosp Org Tokyo Med Ctr, Natl Inst Sensory Organs, Div Mol & Cellular Biol, Tokyo, Japan

[3] Jikei Univ, Sch Med, Ophthalmol, Tokyo, Japan

[4] Nagoya Univ, Grad Sch Med, Ophthalmol, Nagoya, Aichi, Japan

[5] Teikyo Univ, Sch Med, Ophthalmol, Tokyo, Japan

[6] Saitama Med Univ, Ophthalmol, Saitama, Japan

[7] Kindai Univ, Fac Med, Ophthalmol, Osaka, Japan

[8] Mie Univ, Grad Sch Med, Ophthalmol, Tsu, Mie, Japan

[9] Chiba Hokusoh Hosp, Nippon Med Sch, Ophthalmol, Chiba, Japan

[10] Gifu Univ, Grad Sch Med, Ophthalmol, Gifu, Japan

[11] Aichi Med Univ, Nagakute, Aichi, Japan

[12] Natl Hosp Org Tokyo Med Ctr, Natl Inst Sensory Organs, Div Vis Res, Tokyo, Tokyo, Japan

来源：

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2020年 / 61卷 / 07期

关键词：

D O I：

暂无

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

2382

引用

页数：4

共 17 条

[1] Japan Eye Genetics Consortium: National Cohort Survey and Whole Exome Sequencing Results
Fujinami, Kaoru
Yoshitake, Kazutoshi
Hayashi, Takaaki
Kuniyoshi, Kazuki
Ueno, Shinji
Kondo, Mineo
Shinoda, Kei
Kameya, Shuhei
Nao-i, Nobuhisa
Kondo, Hiroyuki
Miyake, Yozo
Iwata, Takeshi
Tsunoda, Kazushige
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
[2] A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree
Lu, Qin-Kang
Zhao, Na
Lv, Ya-Su
Gong, Wei-Kun
Wang, Hui-Yun
Tong, Qi-Hu
Lai, Xao-Ming
Liu, Rong-Rong
Fang, Ming-Yan
Zhang, Jian-Guo
Du, Zhen-Fang
Zhang, Xian-Ning
INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, 2015, 8 (06) : 1112 - 1117
[3] A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree
Qin-Kang Lu
Na Zhao
Ya-Su Lv
Wei-Kun Gong
Hui-Yun Wang
Qi-Hu Tong
Xiao-Ming Lai
Rong-Rong Liu
Ming-Yan Fang
Jian-Guo Zhang
Zhen-Fang Du
Xian-Ning Zhang
International Journal of Ophthalmology, 2015, 8 (06) : 1112 - 1117
[4] Whole exome sequencing reveals CEP78 as a novel disease gene for cone-rod dystrophy
Nikopoulos, Konstantinos
Farinelli, Pietro
Royer-Bertrand, Beryl
Bedoni, Nicola
Kjellstrom, Ulrika
Andreasson, Sten
Tsilimbaris, Miltiadis K.
Tsika, Chrysanthi
Blazaki, Stella
Rivolta, Carlo
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)
[5] Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone-Rod Dystrophy in Israel
Lazar, Csilla H.
Mutsuddi, Mousumi
Kimchi, Adva
Zelinger, Lina
Mizrahi-Meissonnier, Liliana
Marks-Ohana, Devorah
Boleda, Alexis
Ratnapriya, Rinki
Sharon, Dror
Swaroop, Anand
Banin, Eyal
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (01) : 420 - 430
[6] Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy
Hull, Sarah
Arno, Gavin
Plagnol, Vincent
Robson, Anthony
Webster, Andrew R.
Moore, Anthony T.
ACTA OPHTHALMOLOGICA, 2015, 93 (05) : E392 - E393
[7] Whole exome screening and identification of novel variants in a cohort of 28 Greek and Swedish families with cone-rod dystrophy.
Bedoni, Nicola
Nikopoulos, Konstantinos
Farinelli, Pietro
-Bertrand, Beryl Royer
Balzano, Sara
Andreasson, Sten
Tsilimbaris, Miltiadis K.
Tsika, Chrysanthi
Blazaki, Stella
Rivolta, Carlo
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)
[8] Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes
Huang, Li
Zhang, Qingyan
Li, Shiqiang
Guan, Liping
Xiao, Xueshan
Zhang, Jianguo
Jia, Xiaoyun
Sun, Wenmin
Zhu, Zhihong
Gao, Yang
Yin, Ye
Wang, Panfeng
Guo, Xiangming
Wang, Jun
Zhang, Qingjiong
PLOS ONE, 2013, 8 (06):
[9] Identification of a novel ALMS1 pathogenic variant in a family with Cone-Rod Dystrophy using whole exome sequencing, followed by prenatal diagnosis
Rafati, Maryam
Tara, Seyedeh Zahra
Hoseininasab, Fatemeh
Ghaffari, Saeed Reza
META GENE, 2018, 17 : 167 - 171
[10] Whole exome sequencing reveals DFNB31 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in Japanese family.
Kameya, Shuhei
Kubota, Daiki
Kikuchi, Sachiko
Gocho, Kiyoko
Akeo, Keiichiro
Yamaki, Kunihiko
Takahashi, Hiroshi
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017, 58 (08)

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