HuGE Literature Finder
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| A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy. Case reports in genetics 2022 4 2022 1183772. You Hyelin, Sierpina Dav |
| Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort. Journal of ophthalmology 2021 11 2021 9966427. Mao Yumei, Long Yanling, Liu Bo, Cao Qingling, Li Yijian, Li Sha, Wang Gang, Meng Xiaohong, Li Shiyi |
| [ABCA4 mutations and phenotype of different hereditary retinopathies in 3 pedigrees]. [Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2018 10 54 (10): 775-781. Rong W N, Wang X G, Sheng X |
| Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4. Investigative ophthalmology & visual science 2016 Sep 57 (11): 4668-78. Fakin Ana, Robson Anthony G, Fujinami Kaoru, Moore Anthony T, Michaelides Michel, Pei-Wen Chiang John, E Holder Graham, Webster Andrew |
| Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-up. Acta ophthalmologica 2016 Feb . Åkebrand Rebecka, Andersson Susann, Seyedi Honarvar Antovan K, Sofou Kalliopi, Darin Niklas, Tulinius Mar, Grönlund Marita Anderss |
| Mitochondrial retinal dystrophy associated with the m.3243A>G mutation. Ophthalmology 2013 Dec 120 (12): 2684-96. de Laat Paul, Smeitink Jan A M, Janssen Mirian C H, Keunen Jan E E, Boon Camiel J |
| Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. European journal of human genetics : EJHG 2004 Dec 12 (12): 1024-32. Klevering B Jeroen, Yzer Suzanne, Rohrschneider Klaus, Zonneveld Marijke, Allikmets Rando, van den Born L Ingeborgh, Maugeri Alessandra, Hoyng Carel B, Cremers Frans P |
| The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. Archives of ophthalmology (Chicago, Ill. : 1960) 2004 Jul 122 (7): 1029-37. Dharmaraj Sharola, Leroy Bart P, Sohocki Melanie M, Koenekoop Robert K, Perrault Isabelle, Anwar Khalid, Khaliq Shagufta, Devi R Summathi, Birch David G, De Pool Elaine, Izquierdo Natalio, Van Maldergem Lionel, Ismail Mohammad, Payne Annette M, Holder Graham E, Bhattacharya Shomi S, Bird Alan C, Kaplan Josseline, Maumenee Irene |
| [A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa]. [Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2003 Jan 39 (1): 28-32. Cui Yun, Zhao Kan-xing, Wang Li, Wang Qing, Zhang Wei, Chen Wei-ying, Wang Li-mi |
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