Human Genome Epidemiology Literature Finder
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Records 1 - 6 (of 6 Records) |
| Query Trace: Counseling and PAX6[original query] |
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| Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract. Molecular medicine reports 2018 Sep . Lin Ying, Gao Hongbin, Zhu Yi, Chen Chuan, Li Tao, Liu Bingqian, Lyu Cancan, Huang Ying, Li Haichun, Wu Qingxiu, Jin Chenjin, Liang Xiaoling, Huang Xinhua, Lu L |
| Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation. Molecular medicine reports 2018 6 18 (2): 1623-1627. Syrimis Andreas, Nicolaou Nayia, Alexandrou Angelos, Papaevripidou Ioannis, Nicolaou Michael, Loukianou Eleni, Sismani Carolina, Malas Stavros, Christophidou-Anastasiadou Violetta, Tanteles George |
| Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism. Ophthalmic genetics 2021 2 42 (3): 243-251. Ehrenberg Miriam, Bagdonite-Bejarano Laura, Fulton Anne B, Orenstein Naama, Yahalom Claud |
| De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases. Investigative ophthalmology & visual science 2023 2 64 (2): 5. Li Wei, He Xiang-Dong, Yang Zheng-Tao, Han Dong-Ming, Sun Yan, Chen Yan-Xian, Han Xiao-Tong, Guo Si-Cheng, Ma Yu-Ting, Jin Xin, Yang Huan-Ming, Gao Ya, Wang Zhuo-Shi, Li Jian-Kang, He W |
| The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families. Investigative ophthalmology & visual science 2024 8 65 (10): 46. Yi Jiang, Zhen Yi, Yuxi Zheng, Jiamin Ouyang, Dongwei Guo, Shiqiang Li, Xueshan Xiao, Panfeng Wang, Wenmin Sun, Qingjiong Zha |
| 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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