Human Genome Epidemiology Literature Finder
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Records 1 - 13 (of 13 Records) |
| Query Trace: Myopia and COL2A1[original query] |
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| Candidate gene and locus analysis of myopia. Molecular vision 2007 13 1012-9. Mutti Donald O, Cooper Margaret E, O'Brien Sarah, Jones Lisa A, Marazita Mary L, Murray Jeffrey C, Zadnik Kar |
| COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. Investigative ophthalmology & visual science 2009 Sep 50 (9): 4080-6. Metlapally Ravikanth, Li Yi-Ju, Tran-Viet Khanh-Nhat, Abbott Diana, Czaja Gregory R, Malecaze Francois, Calvas Patrick, Mackey David, Rosenberg Thomas, Paget Sandrine, Zayats Tetyana, Owen Michael J, Guggenheim Jeremy A, Young Terri |
| High myopia is not associated with single nucleotide polymorphisms in the COL2A1 gene in the Chinese population. Molecular medicine reports 2012 Jan 5 (1): 133-7. Wang Juan, Wang Panfeng, Gao Yang, Li Shiqiang, Xiao Xueshan, Zhang Qingjio |
| Ophthalmic and molecular genetic findings in Kniest dysplasia. Eye (London, England) 2015 Apr 29 (4): 475-82. Sergouniotis P I, Fincham G S, McNinch A M, Spickett C, Poulson A V, Richards A J, Snead M |
| Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome. Molecular vision 2016 22 697-704. Wang Xun, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Li Jie, Li Yadi, Wei Yantao, Liang Xiaoling, Guo Xiangmi |
| 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 |
| Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing. Experimental eye research 2018 2 171 76-91. Zhou Lin, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Zhang Qingjio |
Insights into the genetic basis of retinal detachment.
Human molecular genetics 2020 Mar 29 (4): 689-702. Boutin Thibaud S, Charteris David G, Chandra Aman, Campbell Susan, Hayward Caroline, Campbell Archie, , Nandakumar Priyanka, Hinds David, , Mitry Danny, Vitart Veroniq |
| Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment. Genes 2020 8 11 (8): . Huang Li, Chen Chonglin, Wang Zhirong, Sun Limei, Li Songshan, Zhang Ting, Luo Xiaoling, Ding Xiaoy |
| High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1. Current eye research 2020 12 46 (7): 1051-1055. Rossenwasser-Weiss Shirel, Orenstein Naama, Zahavi Alon, Goldenberg-Cohen Nit |
| Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita. Human genome variation 2022 5 9 (1): 16. Akahira-Azuma Moe, Enomoto Yumi, Nakamura Naoyuki, Yokoi Takayuki, Minatogawa Mari, Harada Noriaki, Tsurusaki Yoshinori, Kurosawa Ken |
| Mutation survey in Taiwanese patients with Stickler syndrome. Taiwan journal of ophthalmology 2023 1 12 (4): 423-429. Huang Faye, Wang Tzu-Jou, Cho Wan-Hua, Chen Yi-Hao, Wu Pei-Chang, Kuo Hsi-Ku |
| 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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