日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Atypical retinitis pigmentosa associated with EYS variants

与EYS变异相关的非典型视网膜色素变性

Barthelemy, Normila; Barrett, Spencer; Lee, Winston; Sengillo, Jesse D

Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

影响 EYS 假定启动子的非编码单核苷酸和结构变异会导致常染色体隐性遗传性视网膜色素变性。

Hayman, Tamar; Ovadia, Shai; Krishnan, Jaya; Bouckaert, Manon; Panneman, Daan M; English, Milton; Valensi, Johanna; Cremers, Frans P M; Ben Yosef, Tamar; van den Born, L Ingeborgh; de Bruijn, Suzanne E; Roosing, Susanne; Banin, Eyal; Khateb, Samer; Ashery-Padan, Ruth; Coppieters, Frauke; Swaroop, Anand; Sharon, Dror

Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients

291例日本患者EYS相关视网膜营养不良的临床特征

Koyanagi, Yoshito; Murakami, Yusuke; Kominami, Taro; Fukushima, Masatoshi; Goto, Kensuke; Yokota, Satoshi; Mizobuchi, Kei; Mawatari, Go; Torii, Kaoruko; Inoue, Yuji; Ota, Junya; Okuda, Daishi; Fujiwara, Kohta; Yamaga, Hanayo; Hisai, Takahiro; Endo, Mikiko; Iijima, Hanae; Kaida, Tomoko; Miyata, Kazunori; Nakazaki, Shuji; Hayashi, Takaaki; Hirami, Yasuhiko; Akiyama, Masato; Terao, Chikashi; Momozawa, Yukihide; Sonoda, Koh-Hei; Nishiguchi, Koji M; Ikeda, Yasuhiro

Fundus autofluorescence features specific for EYS-associated retinitis pigmentosa

EYS相关性视网膜色素变性的眼底自发荧光特征

Kominami, Taro; Tan, Tien-En; Ushida, Hiroaki; Jain, Kanika; Goto, Kensuke; Bylstra, Yasmin M; Sajiki, Ai Fujita; Mathur, Ranjana S; Ota, Junya; Lim, Weng Khong; Nishiguchi, Koji M; Fenner, Beau J

Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population

亚洲人群中EYS相关和USH2A相关视网膜色素变性的表型差异

Yeo, Ellis Y H; Kominami, Taro; Tan, Tien-En; Babu, Lathiksha; Ong, Kevin G S; Tan, Weilun; Bylstra, Yasmin M; Jain, Kanika; Tang, Rachael W C; Farooqui, Saadia Z; Kam, Sylvia P R; Chan, Choi-Mun; Mathur, Ranjana S; Jamuar, Saumya S; Lim, Weng Khong; Nishiguchi, Koji; Fenner, Beau J

Clinical Use of Liquid Biopsy in Metastatic Breast Cancer-An ESSO-EYSAC International Survey

液体活检在转移性乳腺癌中的临床应用——埃索-EYSAC国际调查

Suppan, Ina; Lundon, Dara; Garg, Pankaj Kumar; Caballero, Carmella; Heitzer, Ellen; Brandl, Andreas

Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction

避免光毒性是治疗由EYS功能障碍引起的视网膜营养不良的一种潜在治疗方法。

Otsuka, Yuki; Imamura, Keiko; Oishi, Akio; Asakawa, Kazuhide; Kondo, Takayuki; Nakai, Risako; Suga, Mika; Inoue, Ikuyo; Sagara, Yukako; Tsukita, Kayoko; Teranaka, Kaori; Nishimura, Yu; Watanabe, Akira; Umeyama, Kazuhiro; Okushima, Nanako; Mitani, Kohnosuke; Nagashima, Hiroshi; Kawakami, Koichi; Muguruma, Keiko; Tsujikawa, Akitaka; Inoue, Haruhisa

Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene

在携带 Eyes Shut Homolog (EYS) 基因突变的家族中,视网膜色素变性呈假显性遗传。

Di Iorio, Enzo; Adamo, Ginevra Giovanna; Sorrentino, Ugo; De Nadai, Katia; Barbaro, Vanessa; Mura, Marco; Pellegrini, Marco; Boaretto, Francesca; Tavolato, Marco; Suppiej, Agnese; Nasini, Francesco; Salviati, Leonardo; Parmeggiani, Francesco

Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene

长读长测序通过识别EYS基因中的Alu逆转录转座子插入,提高了视网膜色素变性的基因诊断率。

Fernández-Suárez, Elena; González-Del Pozo, María; Méndez-Vidal, Cristina; Martín-Sánchez, Marta; Mena, Marcela; de la Morena-Barrio, Belén; Corral, Javier; Borrego, Salud; Antiñolo, Guillermo

Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa

利用新一代测序技术检测EYS相关性视网膜色素变性中的拷贝数变异

Hiraoka, Masakazu; Urakawa, Yusaku; Kawai, Kanako; Yoshida, Akiko; Hosakawa, Junichi; Takazawa, Masaki; Inaba, Akira; Yokota, Satoshi; Hirami, Yasuhiko; Takahashi, Masayo; Ohara, Osamu; Kurimoto, Yasuo; Maeda, Akiko