Human Genome Epidemiology Literature Finder
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Records 1 - 9 (of 9 Records) |
| Query Trace: Disease and GJA8[original query] |
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| Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2016 Oct . Ren Mei, Yang Xin Guang, Dang Xiao Jie, Xiao Jin |
| High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia. G3 (Bethesda, Md.) 2017 8 7 (10): 3257-3268. Javadiyan Shari, Craig Jamie E, Souzeau Emmanuelle, Sharma Shiwani, Lower Karen M, Mackey David A, Staffieri Sandra E, Elder James E, Taranath Deepa, Straga Tania, Black Joanna, Pater John, Casey Theresa, Hewitt Alex W, Burdon Kathryn |
| Novel Mutations in the Crystallin Gene in Age-Related Cataract Patients from a North Indian Population. Molecular syndromology 2017 Jun 8 (4): 179-186. Patel Rashmi, Zenith Ravish K, Chandra Abhishek, Ali Akht |
| Mutation profiles of congenital cataract genes in 21 northern Chinese families. Molecular vision 2018 8 24 471-477. Zhang Xiao Hui, Da Wang Jin, Jia Hong Yan, Zhang Jing Shang, Li Yang, Xiong Ying, Li Jing, Li Xiao Xia, Huang Yao, Zhu Gu Yu, Rong Shi Song, Wormstone Michael, Wan Xiu H |
| Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia. Ophthalmic genetics 2018 Feb 1-9. Vidya Nair Gopinathan, Rajkumar Sankaranarayanan, Vasavada Abhay |
| Clinical and genetic findings in patients with congenital cataract and heart diseases. Orphanet journal of rare diseases 2021 6 16 (1): 242. Li Xinru, Si Nuo, Song Zixun, Ren Yaqiong, Xiao W |
| Next-generation sequencing panel analysis in 24 Chinese patients with congenital ectopia lentis. International ophthalmology 2022 5 42 (7): 2245-2253. Qi Meng, Wang Chong, Liu Yi, Shi Xiangyu, Rong WeiNi |
| First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association. Journal of clinical medicine 2022 1 11 (1): . Stingl Julia V, Diederich Stefan, Diel Heidi, Schuster Alexander K, Wagner Felix M, Chronopoulos Panagiotis, Aghayeva Fidan, Grehn Franz, Winter Jennifer, Schweiger Susann, Hoffmann Esther |
| Genetic association of GJA8 with long-segment Hirschsprung's disease in southern Chinese children. Translational pediatrics 2024 9 13 (8): 1395-1405. Zuyi Ma, Weiyong Zhong, Kai Song, Jiazhang Chen, Bowen Tian, Yuqiong Chen, Lin Li, Chaoting Lan, Wei Zhong, Qiuming He, Yuxin |
- Page last reviewed:Feb 1, 2024
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