Papers - UENO SHINJI
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One-Year Outcomes of Oral Treatment With Alga Capsules Containing Low Levels of 9-<i> cis</i>-fi-Carotene in RDH5-Related Fundus Albipunctatus
Mizobuchi Kei, Hayashi Takaaki, Ueno Shinji, Kondo Mineo, Terasaki Hiroko, Aoki Takuya, Nakano Tadashi
AMERICAN JOURNAL OF OPHTHALMOLOGY 254 193 - 202 2023.10
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Pathogenic variants of <i>MFRP</i> and <i>PRSS56</i> genes are major causes of nanophthalmos in Japanese patients
Ota Junya, Inooka Taiga, Okado Satoshi, Maeda Natsuki, Koyanagi Yoshito, Kominami Taro, Nishiguchi Koji M., Ueno Shinji
OPHTHALMIC GENETICS 44 ( 5 ) 423 - 429 2023.9
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NOTCH2NLC GGC repeat expansion causes retinal pathology of NIID patients
Sone J., Ueno S., Akagi A., Miyahara H., Tamai C., Riku Y., Yabata H., Koizumi R., Hashizume Y., Sobue G., Yoshida M., Iwasaki Y.
BRAIN PATHOLOGY 33 2023.9
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Functional Characteristics of Diverse <i>PAX6</i> Mutations Associated with Isolated Foveal Hypoplasia
Matsushita Itsuka, Izumi Hiroto, Ueno Shinji, Hayashi Takaaki, Fujinami Kaoru, Tsunoda Kazushige, Iwata Takeshi, Kiuchi Yoshiaki, Kondo Hiroyuki
GENES 14 ( 7 ) 2023.7
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Genetic characteristics of retinitis pigmentosa and allied diseases in 2063 Japanese patients
Nishiguchi Koji, Koyanagi Yoshito, Akiyama Masato, Murakami Yusuke, Iijima Hanae, Endo Mikiko, Ueno Shinji, Hayashi Takaaki, Hotta Yoshihiro, Murakami Akira, Wada Yuko, Abe Toshiaki, Nakazawa Toru, Ikeda Yasuhiro, Sonoda Koh-Hei, Goto Kensuke
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 64 ( 8 ) 2023.6
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A light-gated cation channel with high reactivity to weak light
Hososhima Shoko, Ueno Shinji, Okado Satoshi, Inoue Ken-ichi, Konno Masae, Yamauchi Yumeka, Inoue Keiichi, Terasaki Hiroko, Kandori Hideki, Tsunoda Satoshi P.
SCIENTIFIC REPORTS 13 ( 1 ) 7625 2023.5
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NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment
Sone Jun, Ueno Shinji, Akagi Akio, Miyahara Hiroaki, Tamai Chisato, Riku Yuichi, Yabata Hiroyuki, Koizumi Ryuichi, Hattori Tomohiro, Hirose Hiroshi, Koyanagi Yoshito, Kobayashi Rei, Okada Hisashi, Kishimoto Yoshiyuki, Hashizume Yoshio, Sobue Gen, Yoshida Mari, Iwasaki Yasushi
ACTA NEUROPATHOLOGICA COMMUNICATIONS 11 ( 1 ) 71 2023.5
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Assessment of factors affecting flicker ERGs recorded with RETeval from data obtained from health checkup screening
Inooka Taiga, Kominami Taro, Yasuda Shunsuke, Koyanagi Yoshito, Ota Junya, Okado Satoshi, Tomita Ryo, Ito Yasuki, Iwase Takeshi, Terasaki Hiroko, Nishiguchi Koji M., Ueno Shinji
PLOS ONE 18 ( 4 ) e0284686 2023.4
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Phase 1b study on the repurposing of meclizine hydrochloride for children with achondroplasia.
Matsushita M, Kitoh H, Mishima K, Kamiya Y, Kato D, Takemoto G, Sawamura K, Ueno S, Yasuhiro N, Nishida K, Imagama S
PloS one 18 ( 7 ) e0283425 2023
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A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report.
Mizumoto K, Kato K, Fujinami K, Sugita T, Sugita I, Hattori A, Saitoh S, Ueno S, Tsunoda K, Iwata T, Kondo M
Medicine 101 ( 50 ) e32161 2022.12
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A case of herpes zoster ophthalmicus with optic neuritis of the total length of the optic nerve in the orbital space and ischemic optic neuropathy.
Kudo T, Yamauchi K, Suzuki Y, Nakazawa M, Ueno S
American journal of ophthalmology case reports 28 101756 2022.12
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Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing
Suga Akiko, Yoshitake Kazutoshi, Minematsu Naoko, Tsunoda Kazushige, Fujinami Kaoru, Miyake Yozo, Kuniyoshi Kazuki, Hayashi Takaaki, Mizobuchi Kei, Ueno Shinji, Terasaki Hiroko, Kominami Taro, Nao-I Nobuhisa, Mawatari Go, Mizota Atsushi, Shinoda Kei, Kondo Mineo, Kato Kumiko, Sekiryu Tetsuju, Nakamura Makoto, Kusuhara Sentaro, Yamamoto Hiroyuki, Yamamoto Shuji, Mochizuki Kiyofumi, Kondo Hiroyuki, Matsushita Itsuka, Kameya Shuhei, Fukuchi Takeo, Hatase Tetsuhisa, Horiguchi Masayuki, Shimada Yoshiaki, Tanikawa Atsuhiro, Yamamoto Shuichi, Miura Gen, Ito Nana, Murakami Akira, Fujimaki Takuro, Hotta Yoshihiro, Tanaka Koji, Iwata Takeshi
HUMAN MUTATION 43 ( 12 ) 2251 - 2264 2022.11
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Automatic Screening of the Eyes in a Deep-Learning-Based Ensemble Model Using Actual Eye Checkup Optical Coherence Tomography Images
Hirota Masakazu, Ueno Shinji, Inooka Taiga, Ito Yasuki, Takeyama Hideo, Inoue Yuji, Watanabe Emiko, Mizota Atsushi
APPLIED SCIENCES-BASEL 12 ( 14 ) 2022.7
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Ablation of Ctrp9, Ligand of AdipoR1, and Lower Number of Cone Photoreceptors in Mouse Retina.
Inooka D, Omori Y, Ouchi N, Ohashi K, Kawakami Y, Koyanagi Y, Koike C, Terasaki H, Nishiguchi KM, Ueno S
Investigative ophthalmology & visual science 63 ( 5 ) 14 2022.5
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Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization.
Miyagi M, Takeuchi J, Koyanagi Y, Mizobuchi K, Hayashi T, Ito Y, Terasaki H, Nishiguchi KM, Ueno S
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 260 ( 4 ) 1125 - 1137 2022.4
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Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients.
Murakami Y, Koyanagi Y, Fukushima M, Yoshimura M, Fujiwara K, Akiyama M, Momozawa Y, Ueno S, Terasaki H, Oishi A, Miyata M, Ikeda H, Tsujikawa A, Mizobuchi K, Hayashi T, Fujinami K, Tsunoda K, Park JY, Han J, Kim M, Lee CS, Kim SJ, Park TK, Joo K, Woo SJ, Ikeda Y, Sonoda KH
Ophthalmology. Retina 5 ( 12 ) 1269 - 1279 2021.12
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Regional differences in genes and variants causing retinitis pigmentosa in Japan.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Komori S, Gao D, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH
Japanese journal of ophthalmology 65 ( 3 ) 338 - 343 2021.5
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Erratum to Association Between Retinal Layer Thickness and Perfusion Status in Extramacular Areas in Diabetic Retinopathy. Am J Ophthalmol 2020; 215:25-36.
Ito H, Ito Y, Kataoka K, Ueno S, Takeuchi J, Nakano Y, Fujita A, Horiguchi E, Kaneko H, Iwase T, Terasaki H
American journal of ophthalmology 2021.4
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Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants.
Ueno S, Koyanagi Y, Kominami T, Ito Y, Kawano K, Nishiguchi KM, Rivolta C, Nakazawa T, Sonoda KH, Terasaki H
Japanese journal of ophthalmology 64 ( 5 ) 485 - 496 2020.9
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RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.
Fujinami K, Liu X, Ueno S, Mizota A, Shinoda K, Kuniyoshi K, Fujinami-Yokokawa Y, Yang L, Arno G, Pontikos N, Kameya S, Kominami T, Terasaki H, Sakuramoto H, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Yoshiake K, Iwata T, Tsunoda K, Japan Eye Genetics Consortium Study Group.
American journal of medical genetics. Part C, Seminars in medical genetics 184 ( 3 ) 675 - 693 2020.9