Human Genome Epidemiology Literature Finder
Records 1 - 27 (of 27 Records) |
Query Trace: TSPAN12[original query] |
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Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy. American journal of ophthalmology 2011 Jun 151 (6): 1095-1100.e1. Kondo Hiroyuki, Kusaka Shunji, Yoshinaga Aki, Uchio Eiichi, Tawara Akihiko, Hayashi Kenshi, Tahira Tomo |
Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity. Molecular vision 2013 19 476-85. Kondo Hiroyuki, Kusaka Shunji, Yoshinaga Aki, Uchio Eiichi, Tawara Akihiko, Tahira Tomo |
Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy. Molecular vision 2014 20 1296-306. Xu Yu, Huang Lulin, Li Jing, Zhang Qi, Fei Ping, Zhu Xiong, Tai Zhengfu, Ma Shi, Gong Bo, Li Yun, Zang Weizhou, Zhu Xianjun, Zhao Peiquan, Yang Zhengl |
Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. Investigative ophthalmology & visual science 2015 Mar 56 (3): 1937-46. Salvo Jason, Lyubasyuk Vera, Xu Mingchu, Wang Hui, Wang Feng, Nguyen Duy, Wang Keqing, Luo Hongrong, Wen Cindy, Shi Catherine, Lin Danni, Zhang Kang, Chen R |
Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy. Genetic testing and molecular biomarkers 2016 May . Zhang Lin, Yang Yeming, Li Shujin, Tai Zhengfu, Huang Lulin, Liu Yuqing, Zhu Xiong, Di Yanan, Qu Chao, Jiang Zhilin, Li Yuanfeng, Zhang Guolin, Kim Ramasamy, Sundaresan Periasamy, Yang Zhenglin, Zhu Xianj |
Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes. Investigative ophthalmology & visual science 2015 Dec 56 (13): 8365-72. Sun Wenmin, Huang Li, Xu Yan, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Gao Bei, Wang Panfeng, Guo Xiangming, Zhang Qingjio |
Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy. Molecular vision 2017 9 23 605-613. Huang Xiao-Yan, Zhuang Hong, Wu Ji-Hong, Li Jian-Kang, Hu Fang-Yuan, Zheng Yu, Tellier Laurent Christian Asker M, Zhang Sheng-Hai, Gao Feng-Juan, Zhang Jian-Guo, Xu Ge-Z |
Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy. Investigative ophthalmology & visual science 2017 11 58 (13): 5949-5957. Tang Miao, Sun Limei, Hu Andina, Yuan Miner, Yang Yu, Peng Xuening, Ding Xiaoy |
Mutation spectrum of NDP, FZD4 and TSPAN12 genes in Indian patients with retinopathy of prematurity. The British journal of ophthalmology 2017 Oct . Rathi Sonika, Jalali Subhadra, Musada Ganeswara Rao, Patnaik Satish, Balakrishnan Divya, Hussain Anjli, Kaur Inderje |
The characteristics of digenic familial exudative vitreoretinopathy. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2018 8 256 (11): 2149-2156. Li Yian, Peng Jie, Li Jiakai, Zhang Qi, Li Jing, Zhang Xiang, Fei Ping, She Kaiqin, Zhao Peiqu |
Optical Coherence Tomography Angiography in Familial Exudative Vitreoretinopathy: Clinical Features and Phenotype-Genotype Correlation. Investigative ophthalmology & visual science 2018 12 59 (15): 5726-5734. Chen Chonglin, Liu Chengxi, Wang Zhirong, Sun Limei, Zhao Xiujuan, Li Songshan, Luo Xiaoling, Zhang Aiyuan, Chong Victor, Lu Lin, Ding Xiaoy |
Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy. Investigative ophthalmology & visual science 2018 11 59 (13): 5368-5381. Li Jia-Kai, Li Yian, Zhang Xiang, Chen Chun-Li, Rao Yu-Qing, Fei Ping, Zhang Qi, Zhao Peiquan, Li Ji |
Symmetry of folds in FEVR: A genotype-phenotype correlation study. Experimental eye research 2019 7 186 107720. Wang Zhirong, Chen Chonglin, Sun Limei, Zhang Aiyuan, Liu Chengxi, Huang Li, Ding Xiaoy |
Next-Generation Sequencing in the Familial Exudative Vitreoretinopathy-Associated Rhegmatogenous Retinal Detachment. Investigative ophthalmology & visual science 2019 6 60 (7): 2659-2666. Chen Chonglin, Wang Zhirong, Sun Limei, Huang Sijian, Li Songshan, Zhang Aiyuan, Luo Xiaoling, Huang Li, Ding Xiaoy |
Detection of FZD4, LRP5 and TSPAN12 Genes Variants in Malay Premature Babies with Retinopathy of Prematurity. Journal of ophthalmic & vision research 0 14 (2): 171-178. Mohd Khair Siti Zulaikha Nashwa, Ismail Abdul Salim, Embong Zunaina, Mohamed Yusoff Abdul Az |
Potential Mutations in Chinese Pathologic Myopic Patients and Contributions to Phenotype. Current molecular medicine 2019 2 18 (10): 689-697. Chen L, Wei Y, Chi W, Fang D, Jiang X, Zhang |
The spectrum of genetic mutations in patients with asymptomatic mild familial exudative vitreoretinopathy. Experimental eye research 2020 1 192 107941. Chen Chonglin, Sun Limei, Li Songshan, Huang Li, Zhang Ting, Wang Zhirong, Yu Bilin, Ding Xiaoy |
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11. American journal of ophthalmology 2021 Sep . Yang Junxing, Xiao Xueshan, Li Shiqiang, Mai Guiying, Jia Xiaoyun, Wang Panfeng, Sun Wenmin, Zhang Qingjio |
Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy. Investigative ophthalmology & visual science 2021 12 62 (15): 4. Tao Tianchang, Xu Ningda, Li Jiarui, Li Hongyan, Qu Jinfeng, Yin Hong, Liang Jianhong, Zhao Mingwei, Li Xiaoxin, Huang Lvzh |
Mutation spectrum in a cohort with familial exudative vitreoretinopathy. Molecular genetics & genomic medicine 2022 Jul e2021. Qu Ning, Li Wei, Han Dong-Ming, Gao Jia-Yu, Yang Zheng-Tao, Jiang Li, Liu Tian-Bin, Chen Yan-Xian, Jiang Xiao-Sen, Zhou Liang, Wu Ji-Hong, Huang X |
Genotype-phenotype associations in familial exudative vitreoretinopathy: A systematic review and meta-analysis on more than 3200 individuals. PloS one 2022 7 17 (7): e0271326. Wang Xiaona, Chen Jun, Xiong Hui, Yu Xuh |
Update on the Phenotypic and Genotypic Spectrum of KIF11-Related Retinopathy. Genes 2022 4 13 (4): . Wang You, Zhang Zhaotian, Huang Li, Sun Limei, Li Songshan, Zhang Ting, Ding Xiaoy |
Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy. Annals of medicine 2022 11 54 (1): 3286-3298. Mao Jianbo, Chen Yijing, Fang Yuyan, Shao Yirun, Xiang Ziyi, Li Hanxiao, Zhao Shixin, Chen Yiqi, Shen Lij |
Ocular phenotype and genetical analysis in patients with retinopathy of prematurity. BMC ophthalmology 2022 1 22 (1): 22. Tao Tianchang, Meng Xianfen, Xu Ningda, Li Jiarui, Cheng Yong, Chen Yi, Huang Lvzh |
Long term clinical outcomes and genotype-phenotype correlation in Familial Exudative Vitreoretinopathy in a tertiary referral center. Retina (Philadelphia, Pa.) 2023 6 . Andrew S H Tsai, Eugene Y C Kang, Nan-Kai Wang, Hane Lee, Go Hun Seo, Rin Khang, Wei-Chi |
De novel heterozygous copy number deletion on 7q31.31-7q31.32 involving TSPAN12 gene with familial exudative vitreoretinopathy in a Chinese family. International journal of ophthalmology 2023 12 16 (12): 1952-1961. Shuang Zhang, Hai-Ming Yong, Gang Zou, Mei-Jiao Ma, Xue Rui, Shang-Ying Yang, Xun-Lun She |
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia. Journal of translational medicine 2024 1 22 (1): 75. Yi Jiang, Xueshan Xiao, Wenmin Sun, Yingwei Wang, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J Fielding Hejtmancik, Qingjiong Zha |
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