Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 353 Records) |
Query Trace: Myopia 6[original query] |
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Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation. American journal of medical genetics. Part A 2023 9 . Emanuele Crincoli, Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Roberta Mattei, Marco Tartaglia, Fiammetta Catania, Stanislao Rizzo, Giuseppe Zampino, Annabella Saler |
Novel loci for ocular axial length identified through extreme-phenotype genome-wide association study in Chinese populations. The British journal of ophthalmology 2023 7 . Xiaotong Han, Siyu Pan, Jialin Liu, Xiaohu Ding, Xingyan Lin, Decai Wang, Zhi Xie, Changqing Zeng, Fan Liu, Mingguang He, Xiangtian Zhou, Tianzi Liu, Lixia Luo, Yizhi L |
Pathogenesis of myopic choroidal neovascularization: A systematic review and meta-analysis. Survey of ophthalmology 2023 7 . Xiu Juan Zhang, Xiu Nian Chen, Fang Yao Tang, Simon Szeto, Xiang Tian Ling, Zi Xuan Lin, Clement C Tham, Chi Pui Pang, Li Jia Chen, Jason C Y |
Association of mitochondrial DNA variation with high myopia in a Han Chinese population. Molecular genetics and genomics : MGG 2023 6 . Shilai Xing, Siyi Jiang, Siyu Wang, Peng Lin, Haojun Sun, Hui Peng, Jiaying Yang, Hengte Kong, Sheng Wang, Qingshi Bai, Ruowen Qiu, Wei Dai, Jian Yuan, Yunlong Ma, , Xiaoguang Yu, Yinghao Yao, Jianzhong |
Sequencing of 19,219 exomes identifies a low-frequency variant in FKBP5 promoter predisposing to high myopia in a Han Chinese population. Cell reports 2023 5 42 (5): 112510. Jianzhong Su, Jian Yuan, Liangde Xu, Shilai Xing, Mengru Sun, Yinghao Yao, Yunlong Ma, Fukun Chen, Longda Jiang, Kai Li, Xiangyi Yu, Zhengbo Xue, Yaru Zhang, Dandan Fan, Ji Zhang, Hui Liu, Xinting Liu, Guosi Zhang, Hong Wang, Meng Zhou, Fan Lyu, Gang An, Xiaoguang Yu, , Yuanchao Xue, Jian Yang, Jia |
A nonsense mutation in C8orf37 linked with retinitis pigmentosa, early macular degeneration, cataract, and myopia in an arRP family from North India. BMC ophthalmology 2023 5 23 (1): 210. Shiwali Goyal, Kabir Singh, Aashna Uppal, Vanita Vani |
Evaluation of myopia-associated genes in a Han Chinese population with high myopia. Ophthalmic genetics 2023 5 1-5. Zhenzhen Liu, Guangqi An, Yadan Huo, Youmei Xu, Pengyi Zhou, Kunpeng Xie, Haiyan Zhu, Bo Jin, Liping Du, Xuemin J |
Choroidal Hyperreflective Nodules Detected by Infrared Reflectance Images Are a Diagnostic Criterion for Neurofibromatosis Type 1 Patients Excluding Those with High Myopia. Diagnostics (Basel, Switzerland) 2023 4 13 (7): . de Rivas Marta Orejudo, Gabás Javier Mateo, Cabeza Miguel Ángel Torralba, Floría Olivia Esteban, Latorre Raquel Herrero, Moscarda Eva Núñez, Clavería Julia Aramburu, Rivasés Guillermo Pérez, Puyuelo Javier Asca |
Correlation between High Myopia Susceptibility and Polymorphisms of RASGRF1 Gene among College Students in Zhejiang. Journal of environmental and public health 2023 3 2023 6767410. Yi Jipan, Dai Yingying, Ma Shangsheng, Zheng Yiyi, Liang Yunjie, Huang Xiaoj |
Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China. Molecular genetics and genomics : MGG 2023 3 . Ye Min, Ma Ya, Qin Yi-Xuan, Cai Bo, Ma Li-Mei, Ma Zhen, Liu Yang, Jin Zi-Bing, Zhuang Wen-Ju |
Extreme myopia is more susceptible to SOX2 gene than high myopia. Experimental eye research 2023 3 230 109435. Xu Youmei, Li Lin, Shan Jiankang, Du Liping, Jin Xuemin, Zhou Peng |
LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME. Retina (Philadelphia, Pa.) 2023 2 43 (3): 498-505. Magliyah Moustafa S, Almarek Faisal, Nowilaty Sawsan R, Al-Abdi Lama, Alkuraya Fowzan S, Alowain Mohammed, Schatz Patrik, Alfaadhel Talal, Khan Arif O, Alsulaiman Sulaiman |
Defect of TIMP4 Is Associated with High Myopia and Participates in Rat Ocular Development in a Dose-Dependent Manner. International journal of molecular sciences 2023 12 24 (23): . Wenhui Zhou, Zixuan Jiang, Zhen Yi, Jiamin Ouyang, Xueqing Li, Qingjiong Zhang, Panfeng Wa |
Retracted: Correlation between High Myopia Susceptibility and Polymorphisms of RASGRF1 Gene among College Students in Zhejiang. Journal of environmental and public health 2023 12 2023 9814180. Journal Of Environmental And Public Heal |
HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis. Retina (Philadelphia, Pa.) 2023 12 44 (1): 117-126. Li Huang, Yanting Lai, Limei Sun, Songshan Li, Xiaoyan Di |
Whole-Exome Sequencing Among School-Aged Children With High Myopia. JAMA network open 2023 12 6 (12): e2345821. Xiangyi Yu, Jian Yuan, Zhen Ji Chen, Kai Li, Yinghao Yao, Shilai Xing, Zhengbo Xue, Yue Zhang, Hui Peng, Gang An, Xiaoguang Yu, Jia Qu, Jianzhong Su, |
Signatures of adaptation in myopia-related genes on the sunlight exposure hypothesis. Journal of physiological anthropology 2023 11 42 (1): 25. Tian Xia, Kazuhiro Nakaya |
Changes in Refractive Error During Young Adulthood: The Effects of Longitudinal Screen Time, Ocular Sun Exposure, and Genetic Predisposition. Investigative ophthalmology & visual science 2023 11 64 (14): 28. Samantha Sze-Yee Lee, Gareth Lingham, Carol A Wang, Santiago Diaz Torres, Craig E Pennell, Pirro G Hysi, Christopher J Hammond, Puya Gharahkhani, Rosie Clark, Jeremy A Guggenheim, David A Mack |
Intervertebral Disk Degeneration and Bone Mineral Density: A Bidirectional Mendelian Randomization Study. Calcified tissue international 2023 11 . Jie Zhao, Jingyu Wang, Haixu Xu, Wei Hu, Fangyuan Shi, Zhengrui Fan, Chunlei Zhou, Hong |
Pathogenic variant in the X-linked ARR3 gene associated with variable early-onset myopia. American journal of medical genetics. Part A 2023 10 . Grace Uwaila Ediae, Caitlin Chisholm, Gabrielle Lemire, Fred Campbell, Kym M Boyco |
The SNTB1 and ZFHX1B gene have susceptibility in northern Han Chinese populations with high myopia. Experimental eye research 2023 10 109694. Lin Yang, Youmei Xu, Pengyi Zhou, Guangming W |
Screening of genes interacting with high myopia and neuropsychiatric disorders. Scientific reports 2023 10 13 (1): 18347. Yang Liu, Yang Liu, Wen Zhang, Zhong-Qi Xue, Fang-Xia Zhang, Wei-Gang Xu, Wen-Juan Zhua |
Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study. Yonsei medical journal 2023 1 64 (2): 133-138. Ryu Soyoung, Kang Hoon-Chul, Lee Sung Chul, Byeon Suk Ho, Kim Sung Soo, Lee Christopher Seungk |
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis. Journal of medical genetics 2024 5 . Wen Wen, Zhengye Zhao, Zhifa Zheng, Sen Zhao, Hengqiang Zhao, Xi Cheng, Huakang Du, Ziquan Li, Shengru Wang, Guixing Qiu, Zhihong Wu, Terry Jianguo Zhang, Nan |
Polygenic risk score-based phenome-wide association for glaucoma and its impact on disease susceptibility in two large biobanks. Journal of translational medicine 2024 4 22 (1): 355. Jae-Seung Yun, Sang-Hyuk Jung, Su-Nam Lee, Seung Min Jung, , Hong-Hee Won, Dokyoon Kim, Jin A Ch |
Association of 10 Genetic Variations and 10 Environmental Factors with Myopia of Different Severities in Different Age Groups of People in Northeast China. Frontiers in bioscience (Landmark edition) 2024 1 29 (1): 9. Yan Sun, Zhuang Li, Zhuoshi Wang, Xingru He, Sile Yu, Lan Hu, Ling Xu, Wei |
A Mendelian randomization study on the causal relationship between smoking, alcohol consumption, and the development of myopia and astigmatism. Scientific reports 2024 1 14 (1): 1868. Diyao Wei, Huanyan Wang, Ling Huang, Minghui Hou, Hong-Gang Liang, Xiang Shi, Xianghui Wei, Jingrong Li, Liuzhu Gan, Bi Lv, Jiabi Deng, Lulu Qi |
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 |
Identification and phenotypic analysis of novel LTBP2 mutations in a Chinese cohort with congenital ectopia lentis. Molecular vision 2024 1 29 169-179. Liyan Liu, Dongwei Guo, Fengmei Yang, Haotian Qi, Yijing Zhou, Danying Zheng, Guangming J |
Outdoor time influences VIPR2 polymorphism rs2071623 to regulate axial length in Han Chinese children. Molecular vision 2024 1 29 266-273. Xi He, Caixia Lin, Fengchuan Zhang, Sanguo Zhang, Mengtian Kang, Shifei Wei, He Li, Ningli Wang, Shi-Ming |
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- Page last updated:Jun 11, 2024
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