Items where Author is "Terasaki, Hiroko"

2021

Nishiguchi, Koji M. and Miya, Fuyuki and Mori, Yuka and Fujita, Kosuke and Akiyama, Masato and Kamatani, Takashi and Koyanagi, Yoshito and Sato, Kota and Takigawa, Toru and Ueno, Shinji and Tsugita, Misato and Kunikata, Hiroshi and Cisarova, Katarina and Nishino, Jo and Murakami, Akira and Abe, Toshiaki and Momozawa, Yukihide and Terasaki, Hiroko and Wada, Yuko and Sonoda, Koh-Hei and Rivolta, Carlo and Tsunoda, Tatsuhiko and Tsujikawa, Motokazu and Ikeda, Yasuhiro and Nakazawa, Toru. (2021) A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa. Communications Biology, 4 (1). p. 140.

2020

Ueno, Shinji and Koyanagi, Yoshito and Kominami, Taro and Ito, Yasuki and Kawano, Kenichi and Nishiguchi, Koji M. and Rivolta, Carlo and Nakazawa, Toru and Sonoda, Koh-Hei and Terasaki, Hiroko. (2020) Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants. Japanese Journal of Ophthalmology, 64 (5). pp. 485-496.

2019

Nikopoulos, Konstantinos and Cisarova, Katarina and Quinodoz, Mathieu and Koskiniemi-Kuendig, Hanna and Miyake, Noriko and Farinelli, Pietro and Rehman, Atta Ur and Khan, Muhammad Imran and Prunotto, Andrea and Akiyama, Masato and Kamatani, Yoichiro and Terao, Chikashi and Miya, Fuyuki and Ikeda, Yasuhiro and Ueno, Shinji and Fuse, Nobuo and Murakami, Akira and Wada, Yuko and Terasaki, Hiroko and Sonoda, Koh-Hei and Ishibashi, Tatsuro and Kubo, Michiaki and Cremers, Frans P. M. and Kutalik, Zoltán and Matsumoto, Naomichi and Nishiguchi, Koji M. and Nakazawa, Toru and Rivolta, Carlo. (2019) A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. Nature Communications, 10 (1). p. 2884.

2013

Nishiguchi, Koji M. and Tearle, Richard G. and Liu, Yangfan P. and Oh, Edwin C. and Miyake, Noriko and Benaglio, Paola and Harper, Shyana and Koskiniemi-Kuendig, Hanna and Venturini, Giulia and Sharon, Dror and Koenekoop, Robert K. and Nakamura, Makoto and Kondo, Mineo and Ueno, Shinji and Yasuma, Tetsuhiro R. and Beckmann, Jacques S. and Ikegawa, Shiro and Matsumoto, Naomichi and Terasaki, Hiroko and Berson, Eliot L. and Katsanis, Nicholas and Rivolta, Carlo. (2013) Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proceedings of the National Academy of Sciences, 110 (40). pp. 16139-16144.