Human Genome Epidemiology Literature Finder
Records 1 - 23 (of 23 Records) |
Query Trace: Retinitis Pigmentosa and RP1[original query] |
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Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Human mutation 2001 1 17 (1): 42-51. Sohocki M M, Daiger S P, Bowne S J, Rodriquez J A, Northrup H, Heckenlively J R, Birch D G, Mintz-Hittner H, Ruiz R S, Lewis R A, Saperstein D A, Sullivan L |
[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 |
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 |
[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 |
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 |
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 |
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 |
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 |
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families. PloS one 2017 1 12 (1): e0170038. Van Cauwenbergh Caroline, Coppieters Frauke, Roels Dimitri, De Jaegere Sarah, Flipts Helena, De Zaeytijd Julie, Walraedt Sophie, Claes Charlotte, Fransen Erik, Van Camp Guy, Depasse Fanny, Casteels Ingele, de Ravel Thomy, Leroy Bart P, De Baere Elfri |
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families. Investigative ophthalmology & visual science 2018 5 59 (6): 2345-2354. Martin-Merida Inmaculada, Aguilera-Garcia Domingo, Fernandez-San Jose P, Blanco-Kelly Fiona, Zurita Olga, Almoguera Berta, Garcia-Sandoval Blanca, Avila-Fernandez Almudena, Arteche Ana, Minguez Pablo, Carballo Miguel, Corton Marta, Ayuso Carm |
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa. Genetic testing and molecular biomarkers 2018 2 22 (2): 109-114. Li Shujin, Yang Mu, Liu Wenjing, Liu Yuqing, Zhang Lin, Yang Yeming, Sundaresan Periasamy, Yang Zhenglin, Zhu Xianj |
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 |
A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa. Japanese journal of ophthalmology 2020 3 64 (4): 346-350. Nishiguchi Koji Miura, Fujita Kosuke, Ikeda Yasuhiro, Kunikata Hiroshi, Koyanagi Yoshito, Akiyama Masato, Abe Toshiaki, Wada Yuko, Sonoda Koh-Hei, Nakazawa To |
Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa. Molecular genetics & genomic medicine 2020 2 8 (4): e1184. Sun Yan, Li Wei, Li Jian-Kang, Wang Zhuo-Shi, Bai Jin-Yue, Xu Ling, Xing Bo, Yang Wen, Wang Zi-Wei, Wang Lu-Sheng, He Wei, Chen Fa |
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening. Scientific reports 2020 11 10 (1): 20770. Numa Shogo, Oishi Akio, Higasa Koichiro, Oishi Maho, Miyata Manabu, Hasegawa Tomoko, Ikeda Hanako Ohashi, Otsuka Yuki, Matsuda Fumihiko, Tsujikawa Akita |
Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN. Journal of clinical medicine 2021 6 10 (11): . Mizobuchi Kei, Hayashi Takaaki, Oishi Noriko, Kubota Daiki, Kameya Shuhei, Higasa Koichiro, Futami Takuma, Kondo Hiroyuki, Hosono Katsuhiro, Kurata Kentaro, Hotta Yoshihiro, Yoshitake Kazutoshi, Iwata Takeshi, Matsuura Tomokazu, Nakano Tadas |
Regional differences in genes and variants causing retinitis pigmentosa in Japan. Japanese journal of ophthalmology 2021 2 65 (3): 338-343. Koyanagi Yoshito, Akiyama Masato, Nishiguchi Koji M, Momozawa Yukihide, Kamatani Yoichiro, Takata Sadaaki, Inai Chihiro, Iwasaki Yusuke, Kumano Mikako, Murakami Yusuke, Komori Shiori, Gao Dan, 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 |
Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa. Frontiers in cell and developmental biology 2021 2 8 629994. Xiao Ting, Xie Yue, Zhang Xin, Xu Ke, Zhang Xiaohui, Jin Zi-Bing, Li Ya |
- Page last reviewed:Feb 1, 2024
- Page last updated:Jun 24, 2024
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