Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Retinitis Pigmentosa and IMPDH1[original query] |
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Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa. American journal of ophthalmology 2005 Jul 140 (1): 163-5. Wada Yuko, Tada Asako, Itabashi Toshitaka, Kawamura Miyuki, Sato Hajime, Tamai Mako |
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. Investigative ophthalmology & visual science 2005 May 46 (5): 1735-41. Wada Yuko, Sandberg Michael A, McGee Terri L, Stillberger Melissa A, Berson Eliot L, Dryja Thaddeus |
Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. Molecular vision 2008 14 1105-13. Gandra M, Anandula V, Authiappan V, Sundaramurthy S, Raman R, Bhattacharya S, Govindasamy K |
Mutation frequency of IMPDH1 gene of Han population in Ganzhou City. Advances in experimental medicine and biology 2010 664 293-7. Shumei Li, Xiaoting Luo, Xiangyun Zeng, Liqun Hu, Liang Xiong, Sisi |
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. Investigative ophthalmology & visual science 2013 Sep 54 (9): 6255-61. Sullivan Lori S, Bowne Sara J, Reeves Melissa J, Blain Delphine, Goetz Kerry, Ndifor Vida, Vitez Sally, Wang Xinjing, Tumminia Santa J, Daiger Stephen |
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing. Molecular vision 2013 19 654-64. de Sousa Dias Miguel, Hernan Imma, Pascual Beatriz, Borràs Emma, Mañé Begoña, Gamundi Maria José, Carballo Migu |
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population. Investigative ophthalmology & visual science 2015 Dec 56 (13): 8297-305. Coussa Razek Georges, Chakarova Christina, Ajlan Radwan, Taha Mohammed, Kavalec Conrad, Gomolin Julius, Khan Ayesha, Lopez Irma, Ren Huanan, Waseem Naushin, Kamenarova Kunka, Bhattacharya Shomi S, Koenekoop Robert |
Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic. Current eye research 2024 4 1-9. Junwen Wang, Yingwei Wang, Yi Jiang, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zha |
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- Page last updated:May 13, 2024
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