Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Retinal Detachment and COL2A1[original query] |
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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 |
Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment. Human mutation 2016 Jul . Spickett Carl, Hysi Pirro, Hammond Chistopher J, Prescott Alan, Fincham Gregory S, Poulson Arabella V, McNinch Annie M, Richards Allan J, Snead Martin |
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 |
Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review. BMC medical genetics 2020 Feb 21 (1): 27. Wang Dan-Dan, Gao Feng-Juan, Hu Fang-Yuan, Zhang Sheng-Hai, Xu Ping, Wu Ji-Ho |
Common variants in the COL2A1 gene are associated with lattice degeneration of the retina in a Japanese population. Molecular vision 2019 25 843-850. Okazaki Shinya, Meguro Akira, Ideta Ryuichi, Takeuchi Masaki, Yonemoto Junichi, Teshigawara Takeshi, Yamane Takahiro, Okada Eiichi, Ideta Hidenao, Mizuki Nobuhi |
COL2A1 protective variant reduces sporadic rhegmatogenous retinal detachment severity. Experimental eye research 2019 Dec 191 107907. Ng Tsz Kin, Chen Wanghao, Chen Qianwen, Zheng Yuqian, Xu Yanxuan, Chen Weiqi, Zhang Guihua, Chen Jianhuan, Pang Chi Pui, Chen Hao |
Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1. Genes 2021 10 12 (10): . Choi Soon-Il, Woo Se-Joon, Oh Baek-Lok, Han Jinu, Lim Hyun-Taek, Lee Byung-Joo, Joo Kwangsic, Park Jun-Young, Jang Ja-Hyun, So Min-Kyung, Kim Sang-J |
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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