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Public Health Genomics and Precision Health Knowledge Base (v6.0)

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HuGE Navigator|HuGE Literature Finder|PHGKB

HuGE Literature Finder

Records 1-9

Query Trace: Genetic Diseases, Inborn and CRB1[orginal query]

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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed

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