HuGE Literature Finder
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Records 1-5
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Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2016 Nov 254 (11): 2227-2238. Wang Shiyuan, Zhang Qi, Zhang Xiang, Wang Zhaoyang, Zhao Peiqu |
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Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
PloS one 2012 7 (3): e32330. Tan Mei Hong, Mackay Donna S, Cowing Jill, Tran Hoai Viet, Smith Alexander J, Wright Genevieve A, Dev-Borman Arundhati, Henderson Robert H, Moradi Phillip, Russell-Eggitt Isabelle, MacLaren Robert E, Robson Anthony G, Cheetham Michael E, Thompson Dorothy A, Webster Andrew R, Michaelides Michel, Ali Robin R, Moore Anthony |
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Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Ophthalmology 2011 Jan 118 (1): 160-167.e1-3. Booij Judith C, Bakker Arne, Kulumbetova Jamilia, Moutaoukil Youssef, Smeets Bert, Verheij Joke, Kroes Hester Y, Klaver Caroline C W, van Schooneveld Mary, Bergen Arthur A B, Florijn Ralph |
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Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Molecular vision 2009 15 1781-7. Sundaresan Periasamy, Vijayalakshmi P, Thompson Stewart, Ko Audrey C, Fingert John H, Stone Edwin |
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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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- Page last updated:Nov 14, 2019
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