Kei Mizobuchi

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 29

Top Topics

Diabetic Retinopathy

Top Venues

Documenta ophthalmologica. Advances in ophthalmology

Molecular genetics & genomic medicine

Ophthalmic genetics

International journal of molecular sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Tomoko Sato, Kazuki Kuniyoshi, Takaaki Hayashi, Hirokazu Nishiwaki, Kei Mizobuchi, Shunji Kusaka
Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy. Documenta ophthalmologica. Advances in ophthalmology 148 (3) (2024)
Tomoko Sato, Kazuki Kuniyoshi, Takaaki Hayashi, Hirokazu Nishiwaki, Kei Mizobuchi, Shunji Kusaka
Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy. Documenta ophthalmologica. Advances in ophthalmology (2024)
Tomoko Sato, Kazuki Kuniyoshi, Takaaki Hayashi, Hirokazu Nishiwaki, Kei Mizobuchi, Shunji Kusaka
Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy. Documenta ophthalmologica. Advances in ophthalmology 148 (3) (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 (2023)
Takaaki Hayashi, Kei Mizobuchi, Shuhei Kameya, Shinji Ueno, Tomokazu Matsuura, Tadashi Nakano
A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function. Documenta ophthalmologica. Advances in ophthalmology (2023)
Kaoruko Torii, Sachiko Nishina, Hazuki Morikawa, Kei Mizobuchi, Masakazu Takayama, Nobutaka Tachibana, Kentaro Kurata, Akiko Hikoya, Miho Sato, Tadashi Nakano, Maki Fukami, Noriyuki Azuma, Takaaki Hayashi, Hirotomo Saitsu, Yoshihiro Hotta
The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1 -Related Retinal Dystrophy in Japanese Patients. International journal of molecular sciences 24 (18) (2023)
Kei Mizobuchi, Takaaki Hayashi, Ryo Ohira, Tadashi Nakano
Electroretinographic abnormalities in Alport syndrome with a novel COL4A5 truncated variant (p.Try20GlyfsTer19). Documenta ophthalmologica. Advances in ophthalmology (2023)
Naoko Ishiguro, Takaaki Hayashi, Yoshiko Yamawaki, Kei Mizobuchi, Tsutomu Yasukawa, Shigeru Honda, Tadashi Nakano
Multimodal Imaging of Subfoveal Pachydrusen Containing a Blood Flow Signal. Case reports in ophthalmological medicine 2022 (2022)
Yuka Iida, Takaaki Hayashi, Teruaki Tokuhisa, Kei Mizobuchi, Shusaku Omoto, Tadashi Nakano
Polypoidal choroidal vasculopathy in a patient with DMPK-associated myotonic dystrophy. Documenta ophthalmologica. Advances in ophthalmology 144 (3) (2022)
Tamaki Morohashi, Takaaki Hayashi, Kei Mizobuchi, Tadashi Nakano, Ichiro Morioka
Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene. Documenta ophthalmologica. Advances in ophthalmology (2022)
Kei Mizobuchi, Takaaki Hayashi, Tomokazu Matsuura, Tadashi Nakano
Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family. Documenta ophthalmologica. Advances in ophthalmology 144 (3) (2022)
Takaaki Hayashi, Kei Mizobuchi, Shuhei Kameya, Kazutoshi Yoshitake, Takeshi Iwata, Tadashi Nakano
A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy. Documenta ophthalmologica. Advances in ophthalmology 143 (1) (2021)
Kei Mizobuchi, Takaaki Hayashi, Noriko Oishi, Daiki Kubota, Shuhei Kameya, Koichiro Higasa, Takuma Futami, Hiroyuki Kondo, Katsuhiro Hosono, Kentaro Kurata, Yoshihiro Hotta, Kazutoshi Yoshitake, Takeshi Iwata, Tomokazu Matsuura, Tadashi Nakano
Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN. Journal of clinical medicine 10 (11) (2021)
Chihiro Kaizuka, Takaaki Hayashi, Kei Mizobuchi, Masaomi Kubota, Shinji Ueno, Tadashi Nakano
Transient electroretinographic abnormalities that mimic those of KCNV2 retinopathy: a case report. Documenta ophthalmologica. Advances in ophthalmology 143 (2) (2021)
Takaaki Hayashi, Satoshi Katagiri, Daiki Kubota, Kei Mizobuchi, Yozo Ishiuji, Akihiko Asahina, Shuhei Kameya, Tadashi Nakano
The first Japanese family of CDH3-related hypotrichosis with juvenile macular dystrophy. Molecular genetics & genomic medicine 9 (6) (2021)
Takaaki Hayashi, Hiroyuki Kondo, Itsuka Matsushita, Kei Mizobuchi, Akinori Baba, Kie Iida, Hiroyuki Kubo, Tadashi Nakano
Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case report. Documenta ophthalmologica. Advances in ophthalmology 143 (3) (2021)
Nanami Kishimoto, Takaaki Hayashi, Kei Mizobuchi, Masaomi Kubota, Tadashi Nakano
Vitamin A deficiency after prolonged intake of an unbalanced diet in a Japanese hemodialysis patient. Documenta ophthalmologica. Advances in ophthalmology 143 (1) (2021)
Takaaki Hayashi, Yusuke Murakami, Kei Mizobuchi, Yoshito Koyanagi, Koh-Hei Sonoda, Tadashi Nakano
Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients. Ophthalmic genetics 42 (4) (2021)
Yuka Saito, Hiroshi Horiguchi, Kei Mizobuchi, Satoshi Katagiri, Hisato Gunji, Tadashi Nakano
Effectiveness of the Heads-Up Surgery System for Retinal Surgery in a Patient with Severe Photophobia. International medical case reports journal 14 (2021)
Takaaki Hayashi, Katsuhiro Hosono, Akiko Kubo, Kentaro Kurata, Satoshi Katagiri, Kei Mizobuchi, Minehiro Kurai, Norihito Mamiya, Mineo Kondo, Toshiaki Tachibana, Hirotomo Saitsu, Tsutomu Ogata, Tadashi Nakano, Yoshihiro Hotta
Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1. American journal of medical genetics. Part A 182 (6) (2020)
Wakana Ninomiya, Kei Mizobuchi, Takaaki Hayashi, Sachiyo Okude, Satoshi Katagiri, Akiko Kubo, Nami Masuhara, Tadashi Nakano
Electroretinographic abnormalities associated with pregabalin: a case report. Documenta ophthalmologica. Advances in ophthalmology 140 (3) (2020)
Satoshi Katagiri, Katsuhiro Hosono, Takaaki Hayashi, Noriyuki Murai, Eiichi Wake, Ichiro Miyata, Kei Mizobuchi, Kentaro Kurata, Tomokazu Matsuura, Tadashi Nakano, Yoshihiro Hotta
Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient. Documenta ophthalmologica. Advances in ophthalmology 141 (1) (2020)
Kei Mizobuchi, Takaaki Hayashi, Kazutoshi Yoshitake, Kaoru Fujinami, Toshiaki Tachibana, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings. Molecular genetics & genomic medicine 8 (8) (2020)
Takaaki Hayashi, Kei Mizobuchi, Shinsuke Kikuchi, Tadashi Nakano
Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness. Documenta ophthalmologica. Advances in ophthalmology 142 (2) (2020)
Takaaki Hayashi, Katsuhiro Hosono, Kentaro Kurata, Satoshi Katagiri, Kei Mizobuchi, Shinji Ueno, Mineo Kondo, Tadashi Nakano, Yoshihiro Hotta
Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy. Documenta ophthalmologica. Advances in ophthalmology 140 (2) (2019)
Isen Hayashi, Kei Mizobuchi, Akira Watanabe, Tadashi Nakano
Mild accidental macular injury induced by picosecond Nd:YAG laser. Clinical & experimental optometry 103 (6) (2019)
Tomoko Kutsuma, Satoshi Katagiri, Takaaki Hayashi, Kazutoshi Yoshitake, Daisuke Iejima, Tamaki Gekka, Kenichi Kohzaki, Kei Mizobuchi, Yukari Baba, Ryo Terauchi, Tomokazu Matsuura, Shinji Ueno, Takeshi Iwata, Tadashi Nakano
Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses. Documenta ophthalmologica. Advances in ophthalmology 138 (3) (2019)
Kentaro Kurata, Katsuhiro Hosono, Takaaki Hayashi, Kei Mizobuchi, Satoshi Katagiri, Daisuke Miyamichi, Sachiko Nishina, Miho Sato, Noriyuki Azuma, Tadashi Nakano, Yoshihiro Hotta
X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers. International journal of molecular sciences 20 (6) (2019)
Kei Mizobuchi, Takaaki Hayashi, Satoshi Katagiri, Kazutoshi Yoshitake, Kaoru Fujinami, Lizhu Yang, Kazuki Kuniyoshi, Kei Shinoda, Shigeki Machida, Mineo Kondo, Shinji Ueno, Hiroko Terasaki, Tomokazu Matsuura, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano
Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. Scientific reports 9 (1) (2019)