Human Genome Epidemiology Literature Finder
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Records 1 - 12 (of 12 Records) |
| Query Trace: Retinitis Pigmentosa and CRB1[original query] |
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| 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 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 |
| 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 |
| Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. Ophthalmology 2010 1 117 (6): 1190-8. Walia Saloni, Fishman Gerald A, Jacobson Samuel G, Aleman Tomas S, Koenekoop Robert K, Traboulsi Elias I, Weleber Richard G, Pennesi Mark E, Heon Elise, Drack Arlene, Lam Byron L, Allikmets Rando, Stone Edwin |
| High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population. Orphanet journal of rare diseases 2013 Feb 8 (1): 1. Corton M, Tatu SD, Avila-Fernandez A, Vallespín E, Tapias I, Cantalapiedra D, Blanco-Kelly F, Riveiro-Alvarez R, Bernal S, García-Sandoval B, Baiget M, Ayuso C |
| 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 |
| 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 |
| 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 |
| Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. The British journal of ophthalmology 2019 10 104 (7): 932-937. Xu Ke, Xie Yue, Sun Tengyang, Zhang Xiaohui, Chen Chunjie, Li Ya |
| Evaluation of the genetic association between early-onset primary angle-closure glaucoma and retinitis pigmentosa. Experimental eye research 2020 6 197 108118. Liu Xing, Li Jiali, Lin Shufen, Xiao Xueshan, Luo Jingyi, Wei Wei, Ling Yunlan, Fang Lei, Xiao Hui, Chen Liming, Huang Jingjing, Zhong Yimin, Zhang Qingjio |
| CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms. International journal of molecular sciences 2021 12 22 (23): . Mairot Kévin, Smirnov Vasily, Bocquet Béatrice, Labesse Gilles, Arndt Carl, Defoort-Dhellemmes Sabine, Zanlonghi Xavier, Hamroun Dalil, Denis Danièle, Picot Marie-Christine, David Thierry, Grunewald Olivier, Pégart Mako, Huguet Hélèna, Roux Anne-Françoise, Kalatzis Vasiliki, Dhaenens Claire-Marie, Meunier Isabel |
| Generation of CRB1 RP Patient-Derived iPSCs and a CRISPR/Cas9-Mediated Homology-Directed Repair Strategy for the CRB1 c.2480G>T Mutation. Advances in experimental medicine and biology 2023 7 1415 571-576. Bruna Lopes da Costa, Yao Li, Sarah R Levi, Stephen H Tsang, Peter M J Qui |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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