Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: Atrophy and ERG[original query] |
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[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 |
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 |
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 |
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 |
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 |
[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 |
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 |
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 |
Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation. Translational vision science & technology 2024 8 13 (8): 44. Maria Cristina Savastano, Giorgio Placidi, Claudia Fossataro, Federico Giannuzzi, Nicola Claudio D'Onofrio, Lorenzo Hu, Valentina Cestrone, Elena D'Agostino, Ilaria Biagini, Ludovica Paris, Giorgia Coppa, Clara Rizzo, Raphael Kilian, Pietro Chiurazzi, Matteo Bertelli, Paolo Enrico Maltese, Benedetto Falsini, Stanislao Riz |
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