HuGE Literature Finder
Records
1
-
13
| Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients. Journal of medical genetics 2019 Jun . Koyanagi Yoshito, Akiyama Masato, Nishiguchi Koji M, Momozawa Yukihide, Kamatani Yoichiro, Takata Sadaaki, Inai Chihiro, Iwasaki Yusuke, Kumano Mikako, Murakami Yusuke, Omodaka Kazuko, Abe Toshiaki, Komori Shiori, Gao Dan, Hirakata Toshiaki, Kurata Kentaro, Hosono Katsuhiro, Ueno Shinji, Hotta Yoshihiro, Murakami Akira, Terasaki Hiroko, Wada Yuko, Nakazawa Toru, Ishibashi Tatsuro, Ikeda Yasuhiro, Kubo Michiaki, Sonoda Koh-H |
| 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 |
| RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. Human mutation 2012 Dec . Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR |
| Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa. Molecular vision 2012 18 2398-410. Kim Cinoo, Kim Kwang Joong, Bok Jeong, Lee Eun-Ju, Kim Dong-Joon, Oh Ji Hee, Park Sung Pyo, Shin Joo Young, Lee Jong-Young, Yu Hyeong G |
| Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population. Investigative ophthalmology & visual science 2010 Apr 51 (4): 2229-35. Yang Yaping, Zhang Xin, Chen Li Jia, Chiang Sylvia W Y, Tam Pancy O S, Lai Timothy Y Y, Chan Carmen K M, Wang Ningli, Lam Dennis S C, Pang Chi P |
| Differential pattern of RP1 mutations in retinitis pigmentosa. Molecular vision 2010 16 1353-60. Zhang Xin, Chen Li Jia, Law Jonathan P, Lai Timothy Y Y, Chiang Sylvia W Y, Tam Pancy O S, Chu Kwan Yi, Wang Ningli, Zhang Mingzhi, Pang Chi P |
| 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 |
| Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa. Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2008 Apr 43 (2): 208-12. Sheng Xunlun, Zhang Xinfang, Wu Weimin, Zhuang Wenjuan, Meng Ruihua, Rong Weini |
| [Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong]. Zhonghua yi xue za zhi 2005 Jun 85 (23): 1613-7. Wang Dan-yi, Fan Bao-jian, Chan Wai-man, Tam Oi-sin, Chiang Wai-yee, Lam Shun-chiu, Pang Chi-p |
| 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 |
| Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene. Journal of human genetics 2003 48 (6): 305-8. Fujita Yuko, Ezura Yoichi, Emi Mitsuru, Ono Shuji, Takada Daisuke, Takahashi Kaneo, Uemura Kouhei, Iino Yasuhiko, Katayama Yasuo, Bujo Hideaki, Saito Yasus |
| [Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2002 Jun 19 (3): 194-7. Zhang Xiaoli, Yeung Kwun-Yan, Pang Chi-Pui, Fu Weili |
- Page last reviewed:Jul 25, 2022
- Page last updated:Nov 22, 2022
- Content source: