Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Vitelliform Macular Dystrophy and BEST1[original query] |
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| Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy. Retina (Philadelphia, Pa.) 2010 1 30 (5): 820-7. Wong Raymond L M, Hou Ping, Choy Kwong-Wai, Chiang Sylvia W Y, Tam Pancy O S, Li Haitao, Chan Wai-Man, Lam Dennis S C, Pang Chi-Pui, Lai Timothy Y |
| Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy. Molecular vision 2014 20 1594-604. Tian Rong, Yang Guoxing, Wang Jing, Chen Youx |
| Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy. Molecular medicine reports 2015 Aug 12 (2): 2584-8. Lin Ying, Gao Hongbin, Liu Yuhua, Liang Xuanwei, Liu Xialin, Wang Zhonghao, Zhang Wanjun, Chen Jiangna, Lin Zhuoling, Huang Xinhua, Liu Yiz |
| Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy. Ophthalmic research 2016 Apr . Liu Jingshu, Zhang Yongjin, Xuan Yi, Liu Wei, Wang M |
| Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy. Molecular medicine reports 2017 8 16 (4): 4751-4755. Lin Ying, Li Tao, Gao Hongbin, Lian Yu, Chen Chuan, Zhu Yi, Li Yonghao, Liu Bingqian, Zhou Wenli, Jiang Hongye, Liu Xialin, Zhao Xiujuan, Liang Xiaoling, Jin Chenjin, Huang Xinhua, Lu L |
| NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY. Retina (Philadelphia, Pa.) 2018 5 39 (8): 1613-1622. Guo Jingli, Gao Fengjuan, Tang Wenyi, Qi Yuhe, Xuan Yi, Liu Wei, Li Lei, Ye Xiaofeng, Xu Gezhi, Wu Jihong, Zhang Yongj |
| Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population. BioMed research international 2018 12 2018 4582816. Gao Tingting, Tian Chengqiang, Hu Qinrui, Liu Zhiming, Zou Jimei, Huang Lvzhen, Zhao Mingw |
| ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT. Retinal cases & brief reports 2018 10 15 (4): 356-358. Shah Saumya M, Schimmenti Lisa A, Marmorstein Alan D, Bakri Sophie |
| Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy. The British journal of ophthalmology 2019 9 104 (6): 846-851. Gao Feng-Juan, Qi Yu-He, Hu Fang-Yuan, Wang Dan-Dan, Xu Ping, Guo Jing-Li, Li Jian-Kang, Zhang Yong-Jin, Li Wei, Chen Fang, Xu Ge-Zhi, Liu Wei, Chang Qing, Wu Ji-Ho |
| Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies. Ophthalmic genetics 2020 9 41 (6): 585-590. Çavdarli Cemal, Çavdarl? Bü?ranur, Alp Mehmet Num |
| The Clinical Features and Genetic Spectrum of a Large Cohort of Chinese Patients With Vitelliform Macular Dystrophies. American journal of ophthalmology 2020 Apr . Xuan Yi, Zhang Youjia, Zong Yuan, Wang Min, Li Lei, Ye Xiaofeng, Liu Wei, Chen Junyi, Sun Xinghuai, Zhang Yongjin, Chen Yuho |
| Multimodal imaging and genetic analysis of adult-onset best vitelliform macular dystrophy in Chinese patients. Experimental and therapeutic medicine 2021 8 22 (3): 1034. Lin Ying, Li Tao, Liu Bingqian, Lyu Cancan, Lian Yu, Li Jizhu, Huang Ying, Li Haichun, Wu Qingxiu, Jin Chenjin, Lu L |
| Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons. Experimental eye research 2022 8 223 109217. Wang Yingwei, Jiang Yi, Li Xueqing, Xiao Xueshan, Li Shiqiang, Sun Wenmin, Wang Panfeng, Zhang Qingjio |
| Novel IMPG2 variant causing adult macular vitelliform dystrophy: A case report. European journal of ophthalmology 2023 9 11206721231199850. Nicolò Ribarich, Maria Chiara Rivolta, Riccardo Sacconi, Giuseppe Querqu |
- Page last reviewed:Feb 1, 2024
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