Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 32 Records) |
Query Trace: Retinitis Pigmentosa and EYS[original query] |
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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 |
The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients. Journal of human genetics 2014 Sep 59 (9): 521-8. Zhao Yang, Hosono Katsuhiro, Suto Kimiko, Ishigami Chie, Arai Yuuki, Hikoya Akiko, Hirami Yasuhiko, Ohtsubo Masafumi, Ueno Shinji, Terasaki Hiroko, Sato Miho, Nakanishi Hiroshi, Endo Shiori, Mizuta Kunihiro, Mineta Hiroyuki, Kondo Mineo, Takahashi Masayo, Minoshima Shinsei, Hotta Yoshihi |
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 |
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 |
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. PloS one 2014 9 (9): e108721. Katagiri Satoshi, Akahori Masakazu, Sergeev Yuri, Yoshitake Kazutoshi, Ikeo Kazuho, Furuno Masaaki, Hayashi Takaaki, Kondo Mineo, Ueno Shinji, Tsunoda Kazushige, Shinoda Kei, Kuniyoshi Kazuki, Tsurusaki Yohinori, Matsumoto Naomichi, Tsuneoka Hiroshi, Iwata Takes |
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 |
Choroidal Vasculature in Bietti Crystalline Dystrophy With CYP4V2 Mutations and in Retinitis Pigmentosa With EYS Mutations. Investigative ophthalmology & visual science 2017 8 58 (10): 3871-3878. Hirashima Takako, Miyata Manabu, Ishihara Kenji, Hasegawa Tomoko, Sugahara Masako, Ogino Ken, Yoshikawa Munemitsu, Hata Masayuki, Kuroda Yoshimasa, Muraoka Yuki, Ooto Sotaro, Yoshimura Nagahi |
Fundus phenotype in retinitis pigmentosa associated with EYS mutations. Ophthalmic genetics 2018 8 39 (5): 589-602. Mucciolo Dario Pasquale, Sodi Andrea, Passerini Ilaria, Murro Vittoria, Cipollini Francesca, Borg Isabella, Pelo Elisabetta, Contini Elisa, Virgili Gianni, Rizzo Stanisl |
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 |
Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa. Molecular vision 2019 12 25 766-779. Iwanami Masaki, Oishi Akio, Ogino Ken, Seko Yuko, Nishida-Shimizu Tomomi, Yoshimura Nagahisa, Kato Seis |
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency. Scientific reports 2020 3 10 (1): 5497. Yang Lizhu, Fujinami Kaoru, Ueno Shinji, Kuniyoshi Kazuki, Hayashi Takaaki, Kondo Mineo, Mizota Atsushi, Naoi Nobuhisa, Shinoda Kei, Kameya Shuhei, Fujinami-Yokokawa Yu, Liu Xiao, Arno Gavin, Pontikos Nikolas, Kominami Taro, Terasaki Hiroko, Sakuramoto Hiroyuki, Katagiri Satoshi, Mizobuchi Kei, Nakamura Natsuko, Mawatari Go, Kurihara Toshihide, Tsubota Kazuo, Miyake Yozo, Yoshitake Kazutoshi, Iwata Takeshi, Tsunoda Kazushige, |
Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa. Molecular genetics & genomic medicine 2020 2 8 (4): e1184. Sun Yan, Li Wei, Li Jian-Kang, Wang Zhuo-Shi, Bai Jin-Yue, Xu Ling, Xing Bo, Yang Wen, Wang Zi-Wei, Wang Lu-Sheng, He Wei, Chen Fa |
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 |
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening. Scientific reports 2020 11 10 (1): 20770. Numa Shogo, Oishi Akio, Higasa Koichiro, Oishi Maho, Miyata Manabu, Hasegawa Tomoko, Ikeda Hanako Ohashi, Otsuka Yuki, Matsuda Fumihiko, Tsujikawa Akita |
Identification of Novel EYS Mutations by Targeted Sequencing Analysis. Genetic testing and molecular biomarkers 2020 10 24 (11): 745-753. Tian Wanli, Li Xiao, Li Ya, Wang Luyao, Yang Yeming, Sun Kuanxiang, Liu Wenjing, Zhou Bo, Lei Bo, Zhu Xianj |
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort. Genes 2021 5 12 (5): . Kim Yoon-Jeon, Kim You-Na, Yoon Young-Hee, Seo Eul-Ju, Seo Go-Hun, Keum Changwon, Lee Beom-Hee, Lee Joo-Yo |
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration. BMC medical genomics 2021 3 14 (1): 74. Ma Dae Joong, Lee Hyun-Seob, Kim Kwangsoo, Choi Seongmin, Jang Insoon, Cho Seo-Ho, Yoon Chang Ki, Lee Eun Kyoung, Yu Hyeong G |
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 |
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.
Communications biology 2021 Jan 4 (1): 140. Nishiguchi Koji M, Miya Fuyuki, Mori Yuka, Fujita Kosuke, Akiyama Masato, Kamatani Takashi, Koyanagi Yoshito, Sato Kota, Takigawa Toru, Ueno Shinji, Tsugita Misato, Kunikata Hiroshi, Cisarova Katarina, Nishino Jo, Murakami Akira, Abe Toshiaki, Momozawa Yukihide, Terasaki Hiroko, Wada Yuko, Sonoda Koh-Hei, Rivolta Carlo, Tsunoda Tatsuhiko, Tsujikawa Motokazu, Ikeda Yasuhiro, Nakazawa To |
Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa. Translational vision science & technology 2022 7 11 (7): 6. Lo Jui-En, Cheng Chia-Yi, Yang Chang-Hao, Yang Chung-May, Chen Yi-Chieh, Huang Yu-Shu, Chen Pei-Lung, Chen Ta-Chi |
Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study. Scientific reports 2022 12 12 (1): 21494. Suvannaboon Ragkit, Pawestri Aulia Rahmi, Jinda Worapoj, Tuekprakhon Aekkachai, Trinavarat Adisak, Atchaneeyasakul La-Ongs |
A Novel Pair of Compound Heterozygous Mutation of EYS in a Han Chinese Family with Retinitis Pigmentosa. Genetic testing and molecular biomarkers 2023 8 27 (8): 258-266. Chao Dai, Weiming Ren, Yao Wei, Chunbao Xie, Suyang Duan, Qi Li, Lingxi Jiang, Yi S |
Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa. Investigative ophthalmology & visual science 2023 8 64 (11): 18. Carina Kelbsch, Melanie Kempf, Ronja Jung, Friederike Kortüm, Milda Reith, Laura Kuehlewein, Susanne Kohl, Torsten Strasser, Tobias Peters, Helmut Wilhelm, Barbara Wilhelm, Krunoslav Stingl, Katarina Stin |
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 |
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 |
Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene. Scientific reports 2024 8 14 (1): 18580. Enzo Di Iorio, Ginevra Giovanna Adamo, Ugo Sorrentino, Katia De Nadai, Vanessa Barbaro, Marco Mura, Marco Pellegrini, Francesca Boaretto, Marco Tavolato, Agnese Suppiej, Francesco Nasini, Leonardo Salviati, Francesco Parmeggia |
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 |
Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa. PloS one 2024 6 19 (6): e0305812. Masakazu Hiraoka, Yusaku Urakawa, Kanako Kawai, Akiko Yoshida, Junichi Hosakawa, Masaki Takazawa, Akira Inaba, Satoshi Yokota, Yasuhiko Hirami, Masayo Takahashi, Osamu Ohara, Yasuo Kurimoto, Akiko Mae |
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants. NPJ genomic medicine 2024 1 9 (1): 6. Xubing Liu, Fangyuan Hu, Daowei Zhang, Zhe Li, Jianquan He, Shenghai Zhang, Zhenguo Wang, Yingke Zhao, Jiawen Wu, Chen Liu, Chenchen Li, Xin Li, Jihong |
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