Shinji Ueno, Takaaki Hayashi, Kazushige Tsunoda, Takuya Aoki, Mineo Kondo. Nationwide epidemiologic survey on incidence of macular dystrophy in Japan. Japanese Journal of Ophthalmology. 2024
Naoko Fukunaga, Takaaki Hayashi, Yuki Yamada, Kei Mizobuchi, Arihito Ohta, Tadashi Nakano. A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas. Ophthalmic Genetics. 2024. 45. 2. 186-192
Akiko Suga, Kei Mizobuchi, Taiga Inooka, Kazutoshi Yoshitake, Naoko Minematsu, Kazushige Tsunoda, Kazuki Kuniyoshi, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, et al. A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD. Genetics in Medicine Open. 2024. 101843-101843
Kensuke Goto, Yoshito Koyanagi, Masato Akiyama, Yusuke Murakami, Masatoshi Fukushima, Kohta Fujiwara, Hanae Iijima, Mitsuyo Yamaguchi, Mikiko Endo, Kazuki Hashimoto, et al. Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases. Journal of Medical Genetics. 2024
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.
(Investigative ophthalmology & visual science 2019)
High-Resolution Retinal Imaging Reveals Preserved Cone Photoreceptor Density and Choroidal Thickness in Female Carriers of Choroideremia.
(Ophthalmic surgery, lasers & imaging retina 2019)
Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.
(Molecular vision 2019)
Works (4件)：
新規ホメオボックス遺伝子(RlNX)の発現
1999 - 2001
Expression of a Novel Homeobox gene 'RlNX'
1999 - 2001
第2異常の分子メカニズム
1998 - 2001
Molecular Basis of Deutan Color Vision Defects
1998 - 2001
