HuGE Literature Finder
Records 1-12
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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[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 |
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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 |
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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 |
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[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:Mar 16, 2019
- Page last updated:Jun 03, 2020
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