Human Genome Epidemiology Literature Finder
Records 1 - 26 (of 26 Records) |
Query Trace: 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 |
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing. Investigative ophthalmology & visual science 2016 Nov 57 (14): 6374-6381. Roberts Lisa, Ratnapriya Rinki, du Plessis Morné, Chaitankar Vijender, Ramesar Raj S, Swaroop Ana |
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 |
Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing. Scientific reports 2018 Sep 8 (1): 13312. González-Del Pozo María, Martín-Sánchez Marta, Bravo-Gil Nereida, Méndez-Vidal Cristina, Chimenea Ángel, Rodríguez-de la Rúa Enrique, Borrego Salud, Antiñolo Guiller |
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 |
Genetic Variants in CPA6 and PRPF31 Are Associated With Variation in Response to Metformin in Individuals With Type 2 Diabetes.
Diabetes 2018 07 67 (7): 1428-1440. Rotroff Daniel M, Yee Sook Wah, Zhou Kaixin, Marvel Skylar W, Shah Hetal S, Jack John R, Havener Tammy M, Hedderson Monique M, Kubo Michiaki, Herman Mark A, Gao He, Mychaleckyi Josyf C, McLeod Howard L, Doria Alessandro, Giacomini Kathleen M, Pearson Ewan R, Wagner Michael J, Buse John B, Motsinger-Reif Alison A, , |
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 |
Single Nucleotide Polymorphisms Associated with Metformin and Sulphonylureas' Glycaemic Response among South African Adults with Type 2 Diabetes Mellitus. Journal of personalized medicine 2021 Feb 11 (2): . Masilela Charity, Pearce Brendon, Ongole Joven Jebio, Adeniyi Oladele Vincent, Benjeddou Mon |
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 |
Systematic assessment of the contribution of structural variants to inherited retinal diseases. Human molecular genetics 2023 2 . Wen Shu, Wang Meng, Qian Xinye, Li Yumei, Wang Keqing, Choi Jongsu, Pennesi Mark E, Yang Paul, Marra Molly, Koenekoop Robert K, Lopez Irma, Matynia Anna, Gorin Michael, Sui Ruifang, Yao Fengxia, Goetz Kerry, Porto Fernanda Belga Ottoni, Chen R |
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 |
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- Page last updated:Apr 22, 2024
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