HuGE Literature Finder
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Records 1-9
Relative frequency of inherited retinal dystrophies in Brazil.
Scientific reports 2018 Oct 8 (1): 15939. Motta Fabiana Louise, Martin Renan Paulo, Filippelli-Silva Rafael, Salles Mariana Vallim, Sallum Juliana Maria Ferr |
LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability.
Retina (Philadelphia, Pa.) 2016 Jul . Mathijssen Inge B, Florijn Ralph J, van den Born L Ingeborgh, Zekveld-Vroon Renate C, Ten Brink Jacoline B, Plomp Astrid S, Baas Frank, Meijers-Heijboer Hanne, Bergen Arthur A B, van Schooneveld Mary |
Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.
Molecular vision 2016 22 150-60. Oishi Maho, Oishi Akio, Gotoh Norimoto, Ogino Ken, Higasa Koichiro, Iida Kei, Makiyama Yukiko, Morooka Satoshi, Matsuda Fumihiko, Yoshimura Nagahi |
Mutation analysis of Leber congenital amaurosis?associated genes in patients with retinitis pigmentosa.
Molecular medicine reports 2015 Mar 11 (3): 1827-32. Shen Tao, Guan Liping, Li Shiqiang, Zhang Jianguo, Xiao Xueshan, Jiang Hui, Yang Jianhua, Guo Xiangming, Wang Jun, Zhang Qingjio |
A genome-wide search for linkage to allergic rhinitis in Danish sib-pair families.
European journal of human genetics : EJHG 2012 Sep 20 (9): 965-72. Kruse Lisbeth Venø, Nyegaard Mette, Christensen Ulla, Møller-Larsen Steffen, Haagerup Annette, Deleuran Mette, Hansen Lars Gudmund, Venø Stine Krogh, Goossens Dirk, Del-Favero Jurgen, Børglum Anders Dupo |
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
Ophthalmology 2010 Nov 117 (11): 2169-77.e3. Clark Graeme Richard, Crowe Paul, Muszynska Dorota, O'Prey Dominic, O'Neill Justin, Alexander Sharon, Willoughby Colin Eric, McKay Gareth John, Silvestri Giuliana, Simpson David Arth |
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 |
Utility of molecular testing for related retinal dystrophies.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2006 Apr 41 (2): 190-6. Mezer Eedy, Sutherland Joanne, Goei Stephanie L, Héon Elise, Levin Alex |
Mutations in the CRB1 gene cause Leber congenital amaurosis.
Archives of ophthalmology (Chicago, Ill. : 1960) 2001 Mar 119 (3): 415-20. Lotery A J, Jacobson S G, Fishman G A, Weleber R G, Fulton A B, Namperumalsamy P, Héon E, Levin A V, Grover S, Rosenow J R, Kopp K K, Sheffield V C, Stone E |
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