Human Genome Epidemiology Literature Finder
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Records 1 - 11 (of 11 Records) |
| Query Trace: Retinitis Pigmentosa and PDE6B[original query] |
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| [Screening gene mutations of the beta subunit of phosphodiesterase in the Chinese retinitis pigmentosa patients]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2003 Jun 20 (3): 200-2. Cui Yun, Wang Li, Zhao Kan-xing, Wang Qing, Chen Wei-ying, Wang Li-mi |
| [A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa]. [Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2003 Jan 39 (1): 28-32. Cui Yun, Zhao Kan-xing, Wang Li, Wang Qing, Zhang Wei, Chen Wei-ying, Wang Li-mi |
| Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease. Molecular vision 2007 13 (): 287-92. Gao Yong-Qing, Danciger Michael, Ozgul Riza Köksal, Gribanova Yekaterina, Jacobson Samuel, Farber Debora |
| A novel mutation and phenotypes in phosphodiesterase 6 deficiency. American journal of ophthalmology 2008 Nov 146 (5): 780-8. Tsang Stephen H, Tsui Irena, Chou Chai Lin, Zernant Jana, Haamer Eneli, Iranmanesh Reza, Tosi Joaquin, Allikmets Ran |
| 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 |
| Efficacy of Column Scatter Plots for Presenting Retinitis Pigmentosa Phenotypes in a Japanese Cohort. Translational vision science & technology 2016 Mar 5 (2): 4. Ogino Ken, Oishi Akio, Oishi Maho, Gotoh Norimoto, Morooka Satoshi, Sugahara Masako, Hasegawa Tomoko, Miyata Manabu, Yoshimura Nagahi |
| The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. Genes 2017 10 8 (10): . Comander Jason, Weigel-DiFranco Carol, Maher Matthew, Place Emily, Wan Aliete, Harper Shyana, Sandberg Michael A, Navarro-Gomez Daniel, Pierce Eric |
| 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 novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews. Molecular vision 2019 3 25 155-164. Tatour Yasmin, Tamaiev Jonathan, Shamaly Shamaly, Colombo Roberto, Bril Ephrat, Rabinowitz Tom, Yaakobi Alona, Mezer Eedy, Leibu Rina, Tiosano Beatrice, Shomron Noam, Chowers Itay, Banin Eyal, Sharon Dror, Ben-Yosef Tam |
| Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort. Genes 2021 5 12 (5): . Kim Yoon-Jeon, Kim You-Na, Yoon Young-Hee, Seo Eul-Ju, Seo Go-Hun, Keum Changwon, Lee Beom-Hee, Lee Joo-Yo |
| Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa. International journal of molecular sciences 2021 Feb 22 (5): . Kuehlewein Laura, Zobor Ditta, Stingl Katarina, Kempf Melanie, Nasser Fadi, Bernd Antje, Biskup Saskia, Cremers Frans P M, Khan Muhammad Imran, Mazzola Pascale, Schäferhoff Karin, Heinrich Tilman, Haack Tobias B, Wissinger Bernd, Zrenner Eberhart, Weisschuh Nicole, Kohl Susan |
- Page last reviewed:Feb 1, 2024
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