Human Genome Epidemiology Literature Finder
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Records 1 - 20 (of 20 Records) |
| Query Trace: Retinitis Pigmentosa and ERG[original query] |
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| [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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa. Investigative ophthalmology & visual science 2017 9 58 (11): 4457-4466. Bellingrath Julia-Sophia, Ochakovski G Alex, Seitz Immanuel P, Kohl Susanne, Zrenner Eberhart, Hanig Nicola, Prokisch Holger, Weber Bernhard H, Downes Susan M, Ramsden Simon, MacLaren Robert E, Fischer M Domin |
| 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 |
| 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 |
| Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations. Investigative ophthalmology & visual science 2020 12 61 (14): 36. Di Iorio Valentina, Karali Marianthi, Melillo Paolo, Testa Francesco, Brunetti-Pierri Raffaella, Musacchia Francesco, Condroyer Christel, Neidhardt John, Audo Isabelle, Zeitz Christina, Banfi Sandro, Simonelli Frances |
| USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies. Diagnostics (Basel, Switzerland) 2021 2 11 (2): . Falsini Benedetto, Placidi Giorgio, De Siena Elisa, Savastano Maria Cristina, Minnella Angelo Maria, Maceroni Martina, Midena Giulia, Ziccardi Lucia, Parisi Vincenzo, Bertelli Matteo, Maltese Paolo Enrico, Chiurazzi Pietro, Rizzo Stanisl |
| Mutations of TOPORS identified in families with retinitis pigmentosa. Ophthalmic genetics 2022 3 43 (3): 371-377. He Kaiwen, Zhou Yunyu, Li Ningdo |
| Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa. Journal of Korean medical science 2022 1 37 (3): e5. Kim Jin Ha, Han Jung Woo, Choi Eun Woo, Bang Ji Hong, Shin Hee Jeong, Jang Mi-Ae, Lee Jong-Young, Choi Jeong Nam, Chang Hun Soo, Park Tae Kwa |
| Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans. Genes 2023 5 14 (5): . Dong Geun Kim, Kwangsic Joo, Jinu Han, Mihyun Choi, Seong-Woo Kim, Kyu Hyung Park, Sang Jun Park, Christopher Seungkyu Lee, Suk Ho Byeon, Se Joon W |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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