Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 42 Records) |
Query Trace: Retinitis Pigmentosa and RHO[original query] |
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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 |
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. European journal of human genetics : EJHG 2014 Jan 22 (1): 99-104. Glöckle Nicola, Kohl Susanne, Mohr Julia, Scheurenbrand Tim, Sprecher Andrea, Weisschuh Nicole, Bernd Antje, Rudolph Günther, Schubach Max, Poloschek Charlotte, Zrenner Eberhart, Biskup Saskia, Berger Wolfgang, Wissinger Bernd, Neidhardt Jo |
Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa. Molecular vision 2014 20 1132-6. Yang Guoxing, Xie Shipeng, Feng Na, Yuan Zhifeng, Zhang Minglian, Zhao Jialia |
Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies. PloS one 2014 12 9 (12): e116176. González-del Pozo María, Méndez-Vidal Cristina, Bravo-Gil Nereida, Vela-Boza Alicia, Dopazo Joaquin, Borrego Salud, Antiñolo Guiller |
Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations. Genetics and molecular research : GMR 2014 13 (4): 8815-33. Pierrottet C O, Zuntini M, Digiuni M, Bazzanella I, Ferri P, Paderni R, Rossetti L M, Cecchin S, Orzalesi N, Bertelli |
Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families. Acta ophthalmologica 2015 Feb 93 (1): e38-44. Fernandez-San Jose Patricia, Blanco-Kelly Fiona, Corton Marta, Trujillo-Tiebas Maria-Jose, Gimenez Ascension, Avila-Fernandez Almudena, Garcia-Sandoval Blanca, Lopez-Molina Maria-Isabel, Hernan Inma, Carballo Miguel, Riveiro-Alvarez Rosa, Ayuso Carm |
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. Investigative ophthalmology & visual science 2014 Nov 55 (11): 7369-75. Oishi Maho, Oishi Akio, Gotoh Norimoto, Ogino Ken, Higasa Koichiro, Iida Kei, Makiyama Yukiko, Morooka Satoshi, Matsuda Fumihiko, Yoshimura Nagahi |
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 |
Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual. Investigative ophthalmology & visual science 2016 Mar 57 (3): 940-7. Beryozkin Avigail, Levy Gal, Blumenfeld Anat, Meyer Segev, Namburi Prasanthi, Morad Yair, Gradstein Libe, Swaroop Anand, Banin Eyal, Sharon Dr |
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 |
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. Genes 2017 10 8 (10): . Comander Jason, Weigel-DiFranco Carol, Maher Matthew, Place Emily, Wan Aliete, Harper Shyana, Sandberg Michael A, Navarro-Gomez Daniel, Pierce Eric |
High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa. Scientific reports 2017 Jan 7 39652. Ezquerra-Inchausti Maitane, Barandika Olatz, Anasagasti Ander, Irigoyen Cristina, López de Munain Adolfo, Ruiz-Ederra Javi |
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 |
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 |
Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa. International ophthalmology 2019 Apr . Roshandel Danial, Rafati Maryam, Khorami Sara, Novin Baheran Nima, Jalali Setareh, Tabatabaie Razieh, Rezai Safura, Ahmadieh Hamid, Ghaffari Saeed Re |
Evaluation of the genetic association between early-onset primary angle-closure glaucoma and retinitis pigmentosa. Experimental eye research 2020 6 197 108118. Liu Xing, Li Jiali, Lin Shufen, Xiao Xueshan, Luo Jingyi, Wei Wei, Ling Yunlan, Fang Lei, Xiao Hui, Chen Liming, Huang Jingjing, Zhong Yimin, Zhang Qingjio |
Spectrum-frequency and genotype-phenotype analysis of rhodopsin variants. Experimental eye research 2020 12 203 108405. Luo Hualei, Xiao Xueshan, Li Shiqiang, Sun Wenmin, Yi Zhen, Wang Panfeng, Zhang Qingjio |
Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene. International journal of molecular sciences 2021 3 22 (4): . Kobal Nina, Krašovec Tjaša, Šuštar Maja, Volk Marija, Peterlin Borut, Hawlina Marko, Fakin A |
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 |
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 |
Variants identified by next-generation sequencing cause endoplasmic reticulum stress in Rhodopsin-associated retinitis pigmentosa. BMC ophthalmology 2021 10 21 (1): 371. Wang Yue, Chen Xi, Gao Xiang, Zhao Andi, Zhao Chen, Chen Xueju |
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy. Annals of clinical and translational neurology 2021 1 8 (3): 704-710. Licchetta Laura, Ferri Lorenzo, La Morgia Chiara, Zenesini Corrado, Caporali Leonardo, Lucia Valentino Maria, Minardi Raffaella, Fulitano Daniela, Di Vito Lidia, Mostacci Barbara, Alvisi Lara, Avoni Patrizia, Liguori Rocco, Tinuper Paolo, Bisulli Francesca, Carelli Valer |
Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin. Frontiers in genetics 2023 9 14 1240067. Young Hoon Jung, Jay Jiyong Kwak, Kwangsic Joo, Hyuk Jun Lee, Kyu Hyung Park, Min Seok Kim, Eun Kyoung Lee, Suk Ho Byeon, Christopher Seungkyu Lee, Jinu Han, Junwon Lee, Chang Ki Yoon, Se Joon W |
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 |
Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population. Japanese journal of ophthalmology 2023 12 . Saki Tsutsui, Yusuke Murakami, Kohta Fujiwara, Yoshito Koyanagi, Masato Akiyama, Atsunobu Takeda, Yasuhiro Ikeda, Koh-Hei Sono |
Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population. Japanese journal of ophthalmology 2023 1 67 (2): 138-148. Sakai Daiki, Hiraoka Masakazu, Matsuzaki Mitsuhiro, Yokota Satoshi, Hirami Yasuhiko, Onishi Akishi, Nakamura Makoto, Takahashi Masayo, Kurimoto Yasuo, Maeda Aki |
Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa. Ophthalmic genetics 2024 1 1-6. Jianfu Zhuang, Rongcai Zhang, Biting Zhou, Zongfu Cao, Jie Zhou, Xiaole Chen, Nanwen Zhang, Yihua Zhu, Juhua Ya |
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- Page last updated:May 06, 2024
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