Human Genome Epidemiology Literature Finder
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Records 1 - 24 (of 24 Records) |
| Query Trace: Retinitis Pigmentosa and PRPF31[original query] |
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| Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. Investigative ophthalmology & visual science 2007 Mar 48 (3): 1330-4. Waseem Naushin H, Vaclavik Veronika, Webster Andrew, Jenkins Sharon A, Bird Alan C, Bhattacharya Shomi |
| 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 |
| Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa. Archives of ophthalmology (Chicago, Ill. : 1960) 2009 Jun 127 (6): 784-90. Lim King Poo, Yip Shea Ping, Cheung Suk Chun, Leung Kam Wah, Lam Stephen T S, To Chi |
| 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 |
| Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. Scientific reports 2016 09 6 32792. Zhang Qi, Xu Mingchu, Verriotto Jennifer D, Li Yumei, Wang Hui, Gan Lin, Lam Byron L, Chen R |
| 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 |
| Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement. Investigative ophthalmology & visual science 2017 Feb 58 (2): 1045-1053. Martin-Merida Inmaculada, Sanchez-Alcudia Rocio, Fernandez-San Jose Patricia, Blanco-Kelly Fiona, Perez-Carro Raquel, Rodriguez-Jacy da Silva Luciana, Almoguera Berta, Garcia-Sandoval Blanca, Lopez-Molina Maria Isabel, Avila-Fernandez Almudena, Carballo Miguel, Corton Marta, Ayuso Carm |
| 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 |
| Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. PloS one 2018 12 13 (12): e0207958. Birtel Johannes, Gliem Martin, Mangold Elisabeth, Müller Philipp L, Holz Frank G, Neuhaus Christine, Lenzner Steffen, Zahnleiter Diana, Betz Christian, Eisenberger Tobias, Bolz Hanno J, Charbel Issa Pet |
| 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 |
| Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results. Orphanet journal of rare diseases 2020 2 15 (1): 32. Cho Ahra, Lima de Carvalho Jose Ronaldo, Tanaka Akemi J, Jauregui Ruben, Levi Sarah R, Bassuk Alexander G, Mahajan Vinit B, Tsang Stephen |
| 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 |
| Determinants of Disease Penetrance in PRPF31-Associated Retinopathy. Genes 2021 10 12 (10): . McLenachan Samuel, Zhang Dan, Grainok Janya, Zhang Xiao, Huang Zhiqin, Chen Shang-Chih, Zaw Khine, Lima Alanis, Jennings Luke, Roshandel Danial, Moon Sang Yoon, Heath Jeffery Rachael C, Attia Mary S, Thompson Jennifer A, Lamey Tina M, McLaren Terri L, De Roach John, Fletcher Sue, Chen Fred |
| Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu-mediated copy number variations at the PRPF31 locus. Human mutation 2022 11 43 (12): 2279-2294. Chen Zhixuan, Chen Jieqiong, Gao Min, Liu Yang, Wu Yidong, Wang Yafang, Gong Yuanyuan, Yu Suqin, Liu Wenjia, Wan Xiaoling, Sun Xiaodo |
| Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker. JCI insight 2023 6 . Jason Comander, Carol Weigel DiFranco, Kit Green Sanderson, Emily M Place, Matthew Maher, Erin Zampaglione, Yan Zhao, Rachel M Huckfeldt, Kinga M Bujakowska, Eric A Pier |
| Driving with retinitis pigmentosa. Ophthalmic genetics 2023 4 1-9. Heath Jeffery Rachael C, Lo Johnny, Thompson Jennifer A, Lamey Tina M, McLaren Terri L, DeRoach John N, Kabilio Miguel S, Chen Fred |
| Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort. Genes 2023 2 14 (2): . Lisbjerg Kristian, Grønskov Karen, Bertelsen Mette, Møller Lisbeth Birk, Kessel Li |
| Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2023 11 . Richul Oh, Se Joon Woo, Kwangsic J |
| Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation. Translational vision science & technology 2024 8 13 (8): 44. Maria Cristina Savastano, Giorgio Placidi, Claudia Fossataro, Federico Giannuzzi, Nicola Claudio D'Onofrio, Lorenzo Hu, Valentina Cestrone, Elena D'Agostino, Ilaria Biagini, Ludovica Paris, Giorgia Coppa, Clara Rizzo, Raphael Kilian, Pietro Chiurazzi, Matteo Bertelli, Paolo Enrico Maltese, Benedetto Falsini, Stanislao Riz |
| Relationship between genotype, phenotype, and refractive status in patients of inherited retinal degeneration. Eye (London, England) 2024 8 . Wan-Chen Tsai, Yao-Lin Liu, Tzu-Hsun Tsai, Ying-Ju Lai, Chang-Hao Yang, Chung-May Yang, Tzyy-Chang Ho, Chang-Ping Lin, Yi-Ting Hsieh, Po-Ting Yeh, Chao-Wen Lin, Tso-Ting Lai, Pei-Lung Chen, Ta-Ching Ch |
| Clinical and Genetic Findings in a Cohort of Patients with PRPF31-associated Retinal Dystrophy. American journal of ophthalmology 2024 6 . Jan-Philipp Bodenbender, Leon Bethge, Katarina Stingl, Pascale Mazzola, Tobias Haack, Saskia Biskup, Bernd Wissinger, Nicole Weisschuh, Susanne Kohl, Laura Kühlewe |
- Page last reviewed:Feb 1, 2024
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