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K

Kazuki Kuniyoshi

kindai university
H指数:33
被引数:4,054

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A de novo splice-site variant in the retinitis pigmentosa 2 (RP2) gene identified in a symptomatic carrier woman

在一个有症状的携带者女性中鉴定出的一个视网膜色素变性2（RP2）基因中的新生剪接位点变异。

Ophthalmic Genetics
IF1
2025-12-010
PRE
Domoto, Aya; Kuniyoshi, Kazuki; Suga, Akiko; Mizobuchi, Kei; Yoshitake, Kazutoshi; Kawai, Yosuke; Omae, Yosuke; Tokunaga, Katsushi; Sawa, Miki; Hayashi, Takaaki; Mano, Fukutaro; Sakamoto, Masuo; Iwahashi, Chiharu; Nakano, Tadashi; Iwata, Takeshi; Kusaka, Shunji
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases
JOURNAL OF MEDICAL GENETICS
IF3.7
2024-03-184
OA
Goto, Kensuke; Koyanagi, Yoshito; Akiyama, Masato; Murakami, Yusuke; Fukushima, Masatoshi; Fujiwara, Kohta; Iijima, Hanae; Yamaguchi, Mitsuyo; Endo, Mikiko; Hashimoto, Kazuki; Ishizu, Masataka; Hirakata, Toshiaki; Mizobuchi, Kei; Takayama, Masakazu; Ota, Junya; Sajiki, Ai Fujita; Kominami, Taro; Ushida, Hiroaki; Fujita, Kosuke; Kaneko, Hiroki; Ueno, Shinji; Hayashi, Takaaki; Terao, Chikashi; Hotta, Yoshihiro; Murakami, Akira; Kuniyoshi, Kazuki; Kusaka, Shunji; Wada, Yuko; Abe, Toshiaki; Nakazawa, Toru; Ikeda, Yasuhiro; Momozawa, Yukihide; Sonoda, Koh-Hei; Nishiguchi, Koji M.
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing

通过全外显子组测序对患有遗传性视网膜疾病的1210个日本家系进行遗传表征

HUMAN MUTATION
IF3.7
2022-11-0718
OA
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
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association
SCIENTIFIC REPORTS
IF3.9
2020-06-1223
OAAI
Fujinami-Yokokawa, Yu; Fujinami, Kaoru; Kuniyoshi, Kazuki; Hayashi, Takaaki; Ueno, Shinji; Mizota, Atsushi; Shinoda, Kei; Arno, Gavin; Pontikos, Nikolas; Yang, Lizhu; Liu, Xiao; Sakuramoto, Hiroyuki; Katagiri, Satoshi; Mizobuchi, Kei; Kominami, Taro; Terasaki, Hiroko; Nakamura, Natsuko; Kameya, Shuhei; Yoshitake, Kazutoshi; Miyake, Yozo; Kurihara, Toshihide; Tsubota, Kazuo; Miyata, Hiroaki; Iwata, Takeshi; Tsunoda, Kazushige
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency
SCIENTIFIC REPORTS
IF3.9
2020-03-2626
OAAI
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
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
2019-08-0718
OAAI
Kameya, Shuhei; Fujinami, Kaoru; Ueno, Shinji; Hayashi, Takaaki; Kuniyoshi, Kazuki; Ideta, Ryuichi; Kikuchi, Sachiko; Kubota, Daiki; Yoshitake, Kazutoshi; Katagiri, Satoshi; Sakuramoto, Hiroyuki; Kominami, Taro; Terasaki, Hiroko; Yang, Lizhu; Fujinami-Yokokawa, Yu; Liu, Xiao; Arno, Gavin; Pontikos, Nikolas; Miyake, Yozo; Iwata, Takeshi; Tsunoda, Kazushige; Mizota, Atsushi; Shinoda, Kei; Nakamura, Natsuko; Mizobuchi, Kei; Nishimura, Toshihide; Hayashizaki, Yoshihide; Kondo, Mineo; Shimozawa, Nobuhiro; Horiguchi, Masayuki; Yamamoto, Shuichi; Kuze, Manami; Naoi, Nobuhisa; Machida, Shigeki; Shimada, Yoshiaki; Nakamura, Makoto; Fujikado, Takashi; Yoshihiro, Hotta; Takahashi, Masayo; Mochizuki, Kiyofumi; Murakami, Akira; Kondo, Hiroyuki; Ishida, Susumu; Nakazawa, Mitsuru; Hatase, Tetsuhisa; Matsunaga, Tatsuo; Maeda, Akiko; Noda, Kosuke; Tanikawa, Atsuhiro; Yamamoto, Syuji; Yamamoto, Hiroyuki; Araie, Makoto; Aihara, Makoto; Nakazawa, Toru; Sekiryu, Tetsuju; Kashiwagi, Kenji; Kosaki, Kenjiro; Piero, Carninci; Fukuchi, Takeo; Hayashi, Atsushi; Hosono, Katsuhiro; Mori, Keisuke; Tanaka, Kouji; Furuya, Kouiti; Suzuki, Keiichirou; Kohata, Ryo; Yanagi, Yasuo; Minegishi, Yuriko; Iejima, Daisuke; Suga, Akiko; Rossmiller, Brian P.; Pan, Yang; Oshima, Tomoko; Nakayama, Mao; Yamamoto, Megumi; Minematsu, Naoko; Mori, Daisuke; Kijima, Yusuke; Mawatari, Go; Kurata, Kentaro; Yamada, Norihiro; Itoh, Masayoshi; Kawaji, Hideya; Murakawa, Yasuhiro
Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
2016-09-1356
OAAI
Fujinami, Kaoru; Kameya, Shuhei; Kikuchi, Sachiko; Ueno, Shinji; Kondo, Mineo; Hayashi, Takaaki; Shinoda, Kei; Machida, Shigeki; Kuniyoshi, Kazuki; Kawamura, Yuichi; Akahori, Masakazu; Yoshitake, Kazutoshi; Katagiri, Satoshi; Nakanishi, Ayami; Sakuramoto, Hiroyuki; Ozawa, Yoko; Tsubota, Kazuo; Yamaki, Kunihiko; Mizota, Atsushi; Terasaki, Hiroko; Miyake, Yozo; Iwata, Takeshi; Tsunoda, Kazushige

研究方向

暂未获取到该数据
T
Takaaki Hayashi
H 指数:48论文数:470被引数:1.1万
K
Kei Mizobuchi
H 指数:15论文数:79被引数:665
S
Shinji Ueno
H 指数:38论文数:377被引数:5,590
K
Kazutoshi Yoshitake
H 指数:27论文数:182被引数:2,201
M
Mineo Kondo
H 指数:53论文数:500被引数:1.2万
T
Takeshi Iwata
H 指数:40论文数:287被引数:6,834
K
Kazushige Tsunoda
H 指数:32论文数:171被引数:3,453
S
Shunji Kusaka
H 指数:42论文数:291被引数:6,661
K
Kaoru Fujinami
H 指数:38论文数:209被引数:4,235
S
Satoshi Katagiri
H 指数:26论文数:160被引数:6,230