HuGE Literature Finder
Records 1-6
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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