HuGE Literature Finder
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| CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease. Ophthalmic genetics 2018 Oct 1-7. Sodi Andrea, Passerini Ilaria, Bacherini Daniela, Boni Luca, Palchetti Simona, Murro Vittoria, Caporossi Orsola, Mucciolo Dario Pasquale, Franco Fabrizio, Vannozzi Lorenzo, Torricelli Francesca, Pelo Elisabetta, Rizzo Stanislao, Virgili Gian |
| 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 |
| 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 |
| Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. Molecular vision 2015 21 783-92. Sharon Dror, Banin Ey |
| Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis. Journal of ophthalmology 2015 2015 693468. Hosono Katsuhiro, Harada Yuko, Kurata Kentaro, Hikoya Akiko, Sato Miho, Minoshima Shinsei, Hotta Yoshihi |
| SLC7A14 linked to autosomal recessive retinitis pigmentosa. Nature communications 2014 5 3517. Jin Zi-Bing, Huang Xiu-Feng, Lv Ji-Neng, Xiang Lue, Li Dong-Qing, Chen Jiangfei, Huang Changjiang, Wu Jinyu, Lu Fan, Qu J |
| Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation. Molecular vision 2009 15 . Hartong DT, McGee TL, Sandberg MA, Berson EL, Asselbergs FW, van der Harst P, De Vivo I, Dryja TP |
| Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Investigative ophthalmology & visual science 2008 Dec 49 (12): 5532-9. Sandberg Michael A, Rosner Bernard, Weigel-DiFranco Carol, McGee Terri L, Dryja Thaddeus P, Berson Eliot |
| Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Investigative ophthalmology & visual science 2007 Mar 48 (3): 1298-304. Sandberg Michael A, Rosner Bernard, Weigel-DiFranco Carol, Dryja Thaddeus P, Berson Eliot |
| 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 |
| Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. European journal of human genetics : EJHG 2004 Dec 12 (12): 1024-32. Klevering B Jeroen, Yzer Suzanne, Rohrschneider Klaus, Zonneveld Marijke, Allikmets Rando, van den Born L Ingeborgh, Maugeri Alessandra, Hoyng Carel B, Cremers Frans P |
| RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. American journal of human genetics 2003 Nov 73 (5): 1131-46. Sharon Dror, Sandberg Michael A, Rabe Vivian W, Stillberger Melissa, Dryja Thaddeus P, Berson Eliot |
| [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 |
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