Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 33 Records) |
| Query Trace: Disease and EYS[original query] |
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Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis.
Arthritis & rheumatology (Hoboken, N.J.) 2015 Jan 67 (1): 140-51. Robinson Philip C, Claushuis Theodora A M, Cortes Adrian, Martin Tammy M, Evans David M, Leo Paul, Mukhopadhyay Pamela, Bradbury Linda A, Cremin Katie, Harris Jessica, Maksymowych Walter P, Inman Robert D, Rahman Proton, Haroon Nigil, Gensler Lianne, Powell Joseph E, van der Horst-Bruinsma Irene E, Hewitt Alex W, Craig Jamie E, Lim Lyndell L, Wakefield Denis, McCluskey Peter, Voigt Valentina, Fleming Peter, , Degli-Esposti Mariapia, Pointon Jennifer J, Weisman Michael H, Wordsworth B Paul, Reveille John D, Rosenbaum James T, Brown Matthew |
| 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 |
| A founder mutation in CERKL is a major cause of retinal dystrophy in Finland. Acta ophthalmologica 2017 10 96 (2): 183-191. Avela Kristiina, Sankila Eeva-Marja, Seitsonen Sanna, Kuuluvainen Liina, Barton Stephanie, Gillies Stuart, Aittomäki Kristii |
| 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 |
| Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237. Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya |
| 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 |
| Correlation of EYS polymorphisms with lumbar disc herniation risk among Han Chinese population. Molecular genetics & genomic medicine 2019 Jul e890. Ji Demin, Xing Wenhua, Li Feng, Huang Zhi, Zheng Wenkai, Hu Baoyang, Niu FangLin, Zhu Yong, Yang Xuej |
| A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. Nature communications 2019 6 10 (1): 2884. Nikopoulos Konstantinos, Cisarova Katarina, Quinodoz Mathieu, Koskiniemi-Kuendig Hanna, Miyake Noriko, Farinelli Pietro, Rehman Atta Ur, Khan Muhammad Imran, Prunotto Andrea, Akiyama Masato, Kamatani Yoichiro, Terao Chikashi, Miya Fuyuki, Ikeda Yasuhiro, Ueno Shinji, Fuse Nobuo, Murakami Akira, Wada Yuko, Terasaki Hiroko, Sonoda Koh-Hei, Ishibashi Tatsuro, Kubo Michiaki, Cremers Frans P M, Kutalik Zoltán, Matsumoto Naomichi, Nishiguchi Koji M, Nakazawa Toru, Rivolta Car |
| 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, |
| Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations. Genetics in medicine : official journal of the American College of Medical Genetics 2020 2 22 (6): 1079-1087. Zampaglione Erin, Kinde Benyam, Place Emily M, Navarro-Gomez Daniel, Maher Matthew, Jamshidi Farzad, Nassiri Sherwin, Mazzone J Alex, Finn Caitlin, Schlegel Dana, Comander Jason, Pierce Eric A, Bujakowska Kinga |
| 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 |
| 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 |
| Genotype Profile of Global EYS-Associated Inherited Retinal Dystrophy and Clinical Findings in a Large Chinese Cohort. Frontiers in cell and developmental biology 2021 9 634220. Xu Ke, Chen De-Fu, Chang Haoyu, Shen Ren-Juan, Gao Hua, Wang Xiao-Fang, Feng Zhuo-Kun, Zhang Xiaohui, Xie Yue, Li Yang, Jin Zi-Bi |
| 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 |
| Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan. NPJ genomic medicine 2021 2 6 (1): 16. Chen Ta-Ching, Huang Ding-Siang, Lin Chao-Wen, Yang Chang-Hao, Yang Chung-May, Wang Victoria Y, Lin Jou-Wei, Luo Allen Chilun, Hu Fung-Rong, Chen Pei-Lu |
| Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort. Eye (London, England) 2021 10 36 (11): 2122-2129. Gao Feng-Juan, Wang Dan-Dan, Hu Fang-Yuan, Xu Ping, Chang Qing, Li Jian-Kang, Liu Wei, Zhang Sheng-Hai, Xu Ge-Zhi, Wu Ji-Ho |
| 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 |
| Genome-wide association studies of stress score in a Korean Cohort.
Stress (Amsterdam, Netherlands) 2021 Oct 1-7. Yang Jiw |
| 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 |
| The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. PNAS nexus 2023 3 2 (3): pgad043. Peter Virginie G, Kaminska Karolina, Santos Cristina, Quinodoz Mathieu, Cancellieri Francesca, Cisarova Katarina, Pescini Gobert Rosanna, Rodrigues Raquel, Custódio Sónia, Paris Liliana P, Sousa Ana Berta, Coutinho Santos Luisa, Rivolta Car |
| 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 |
| 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 |
| 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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