Works matching AU Kei Mizobuchi

Results: 41

Genotype-Phenotype Correlations in RP1 -Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 11, p. 2265, doi. 10.3390/jcm10112265

By:

Mizobuchi, Kei;
Hayashi, Takaaki;
Oishi, Noriko;
Kubota, Daiki;
Kameya, Shuhei;
Higasa, Koichiro;
Futami, Takuma;
Kondo, Hiroyuki;
Hosono, Katsuhiro;
Kurata, Kentaro;
Hotta, Yoshihiro;
Yoshitake, Kazutoshi;
Iwata, Takeshi;
Matsuura, Tomokazu;
Nakano, Tadashi

Publication type:

Article

Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.

Published in:

Molecular Vision, 2018, v. 24, p. 286

By:

Satoshi Katagiri;
Katsuhiro Hosono;
Takaaki Hayashi;
Kentaro Kurata;
Kei Mizobuchi;
Tomokazu Matsuura;
Kazutoshi Yoshitake;
Takeshi Iwata;
Tadashi Nakano;
Yoshihiro Hotta

Publication type:

Article

The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1 -Related Retinal Dystrophy in Japanese Patients.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 13678, doi. 10.3390/ijms241813678

By:

Torii, Kaoruko;
Nishina, Sachiko;
Morikawa, Hazuki;
Mizobuchi, Kei;
Takayama, Masakazu;
Tachibana, Nobutaka;
Kurata, Kentaro;
Hikoya, Akiko;
Sato, Miho;
Nakano, Tadashi;
Fukami, Maki;
Azuma, Noriyuki;
Hayashi, Takaaki;
Saitsu, Hirotomo;
Hotta, Yoshihiro

Publication type:

Article

Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1331, doi. 10.3390/ijms21041331

By:

Kuniyoshi, Kazuki;
Hayashi, Takaaki;
Kameya, Shuhei;
Katagiri, Satoshi;
Mizobuchi, Kei;
Tachibana, Toshiaki;
Kubota, Daiki;
Sakuramoto, Hiroyuki;
Tsunoda, Kazushige;
Fujinami, Kaoru;
Yoshitake, Kazutoshi;
Iwata, Takeshi;
Nakano, Tadashi;
Kusaka, Shunji

Publication type:

Article

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 6, p. 1518, doi. 10.3390/ijms20061518

By:

Kurata, Kentaro;
Hosono, Katsuhiro;
Miyamichi, Daisuke;
Sato, Miho;
Hotta, Yoshihiro;
Hayashi, Takaaki;
Mizobuchi, Kei;
Katagiri, Satoshi;
Nakano, Tadashi;
Nishina, Sachiko;
Azuma, Noriyuki

Publication type:

Article

A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas.

Published in:

Ophthalmic Genetics, 2024, v. 45, n. 2, p. 186, doi. 10.1080/13816810.2023.2245464

By:

Fukunaga, Naoko;
Hayashi, Takaaki;
Yamada, Yuki;
Mizobuchi, Kei;
Ohta, Arihito;
Nakano, Tadashi

Publication type:

Article

Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients.

Published in:

2021

By:

Hayashi, Takaaki;
Murakami, Yusuke;
Mizobuchi, Kei;
Koyanagi, Yoshito;
Sonoda, Koh-Hei;
Nakano, Tadashi

Publication type:

Report

Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy.

Published in:

2020

By:

Hayashi, Takaaki;
Katagiri, Satoshi;
Mizobuchi, Kei;
Yoshitake, Kazutoshi;
Kameya, Shuhei;
Matsuura, Tomokazu;
Iwata, Takeshi;
Nakano, Tadashi

Publication type:

Letter

Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel <italic>PRPH2</italic> variant (p.Cys250Gly).

Published in:

Ophthalmic Genetics, 2018, v. 39, n. 3, p. 357, doi. 10.1080/13816810.2018.1459737

By:

Katagiri, Satoshi;
Hayashi, Takaaki;
Mizobuchi, Kei;
Yoshitake, Kazutoshi;
Iwata, Takeshi;
Nakano, Tadashi

Publication type:

Article

ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance.

Published in:

Journal of Ophthalmology, 2017, p. 1, doi. 10.1155/2017/1079687

By:

Katagiri, Satoshi;
Negishi, Yuya;
Mizobuchi, Kei;
Urashima, Mitsuyoshi;
Nakano, Tadashi;
Hayashi, Takaaki

Publication type:

Article

Relatively preserved retinal function in RPE65-associated retinopathy: a case report.

Published in:

Documenta Ophthalmologica, 2025, v. 150, n. 2, p. 97, doi. 10.1007/s10633-025-10007-4

By:

Mizobuchi, Kei;
Hayashi, Takaaki;
Kameya, Shuhei;
Ohta, Yuri;
Kuribayashi, Kohei;
Shinoda, Kei

Publication type:

Article

Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy.

Published in:

Documenta Ophthalmologica, 2024, v. 148, n. 3, p. 173, doi. 10.1007/s10633-024-09971-0

By:

Sato, Tomoko;
Kuniyoshi, Kazuki;
Hayashi, Takaaki;
Nishiwaki, Hirokazu;
Mizobuchi, Kei;
Kusaka, Shunji

Publication type:

Article

A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function.

Published in:

Documenta Ophthalmologica, 2023, v. 147, n. 1, p. 59, doi. 10.1007/s10633-023-09936-9

By:

Hayashi, Takaaki;
Mizobuchi, Kei;
Kameya, Shuhei;
Ueno, Shinji;
Matsuura, Tomokazu;
Nakano, Tadashi

Publication type:

Article

Electroretinographic abnormalities in Alport syndrome with a novel COL4A5 truncated variant (p.Try20GlyfsTer19).

Published in:

Documenta Ophthalmologica, 2023, v. 146, n. 3, p. 281, doi. 10.1007/s10633-023-09935-w

By:

Mizobuchi, Kei;
Hayashi, Takaaki;
Ohira, Ryo;
Nakano, Tadashi

Publication type:

Article

Bardet–Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.

Published in:

2023

By:

Morohashi, Tamaki;
Hayashi, Takaaki;
Mizobuchi, Kei;
Nakano, Tadashi;
Morioka, Ichiro

Publication type:

Case Study

Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family.

Published in:

Documenta Ophthalmologica, 2022, v. 144, n. 3, p. 227, doi. 10.1007/s10633-022-09874-y

By:

Mizobuchi, Kei;
Hayashi, Takaaki;
Matsuura, Tomokazu;
Nakano, Tadashi

Publication type:

Article

Polypoidal choroidal vasculopathy in a patient with DMPK-associated myotonic dystrophy.

Published in:

2022

By:

Iida, Yuka;
Hayashi, Takaaki;
Tokuhisa, Teruaki;
Mizobuchi, Kei;
Omoto, Shusaku;
Nakano, Tadashi

Publication type:

Case Study

Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case report.

Published in:

Documenta Ophthalmologica, 2021, v. 143, n. 3, p. 323, doi. 10.1007/s10633-021-09842-y

By:

Hayashi, Takaaki;
Kondo, Hiroyuki;
Matsushita, Itsuka;
Mizobuchi, Kei;
Baba, Akinori;
Iida, Kie;
Kubo, Hiroyuki;
Nakano, Tadashi

Publication type:

Article

Transient electroretinographic abnormalities that mimic those of KCNV2 retinopathy: a case report.

Published in:

2021

By:

Kaizuka, Chihiro;
Hayashi, Takaaki;
Mizobuchi, Kei;
Kubota, Masaomi;
Ueno, Shinji;
Nakano, Tadashi

Publication type:

Case Study

A new PDE6A missense variant p.Arg544Gln in rod–cone dystrophy.

Published in:

Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 107, doi. 10.1007/s10633-021-09826-y

By:

Hayashi, Takaaki;
Mizobuchi, Kei;
Kameya, Shuhei;
Yoshitake, Kazutoshi;
Iwata, Takeshi;
Nakano, Tadashi

Publication type:

Article

Vitamin A deficiency after prolonged intake of an unbalanced diet in a Japanese hemodialysis patient.

Published in:

Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 85, doi. 10.1007/s10633-021-09823-1

By:

Kishimoto, Nanami;
Hayashi, Takaaki;
Mizobuchi, Kei;
Kubota, Masaomi;
Nakano, Tadashi

Publication type:

Article

Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness.

Published in:

Documenta Ophthalmologica, 2021, v. 142, n. 2, p. 265, doi. 10.1007/s10633-020-09798-5

By:

Hayashi, Takaaki;
Mizobuchi, Kei;
Kikuchi, Shinsuke;
Nakano, Tadashi

Publication type:

Article

Novel biallelic splice-site BBS1 variants in Bardet–Biedle syndrome: a case report of the first Japanese patient.

Published in:

Documenta Ophthalmologica, 2020, v. 141, n. 1, p. 77, doi. 10.1007/s10633-020-09752-5

By:

Katagiri, Satoshi;
Hosono, Katsuhiro;
Hayashi, Takaaki;
Murai, Noriyuki;
Wake, Eiichi;
Miyata, Ichiro;
Mizobuchi, Kei;
Kurata, Kentaro;
Matsuura, Tomokazu;
Nakano, Tadashi;
Hotta, Yoshihiro

Publication type:

Article

Improvement of reduced electroretinographic responses in thymoma-associated retinopathy: a case report and literature review.

Published in:

Documenta Ophthalmologica, 2020, v. 141, n. 2, p. 195, doi. 10.1007/s10633-020-09764-1

By:

Mizobuchi, Kei;
Hayashi, Takaaki;
Katagiri, Satoshi;
Kim, Euido;
Ishiba, Yasutsugu;
Watanabe, Sumiko;
Furukawa, Takahisa;
Nakano, Tadashi

Publication type:

Article

Electroretinographic abnormalities associated with pregabalin: a case report.

Published in:

Documenta Ophthalmologica, 2020, v. 140, n. 3, p. 279, doi. 10.1007/s10633-019-09743-1

By:

Ninomiya, Wakana;
Mizobuchi, Kei;
Hayashi, Takaaki;
Okude, Sachiyo;
Katagiri, Satoshi;
Kubo, Akiko;
Masuhara, Nami;
Nakano, Tadashi

Publication type:

Article

Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.

Published in:

Documenta Ophthalmologica, 2020, v. 140, n. 2, p. 147, doi. 10.1007/s10633-019-09727-1

By:

Hayashi, Takaaki;
Hosono, Katsuhiro;
Kurata, Kentaro;
Katagiri, Satoshi;
Mizobuchi, Kei;
Ueno, Shinji;
Kondo, Mineo;
Nakano, Tadashi;
Hotta, Yoshihiro

Publication type:

Article

Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses.

Published in:

Documenta Ophthalmologica, 2019, v. 138, n. 3, p. 229, doi. 10.1007/s10633-019-09679-6

By:

Kutsuma, Tomoko;
Katagiri, Satoshi;
Hayashi, Takaaki;
Yoshitake, Kazutoshi;
Iejima, Daisuke;
Gekka, Tamaki;
Kohzaki, Kenichi;
Mizobuchi, Kei;
Baba, Yukari;
Terauchi, Ryo;
Matsuura, Tomokazu;
Ueno, Shinji;
Iwata, Takeshi;
Nakano, Tadashi

Publication type:

Article

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-62119-3

By:

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

Publication type:

Article

Long‐term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1500, doi. 10.1002/ajmg.a.61575

By:

Hayashi, Takaaki;
Hosono, Katsuhiro;
Kubo, Akiko;
Kurata, Kentaro;
Katagiri, Satoshi;
Mizobuchi, Kei;
Kurai, Minehiro;
Mamiya, Norihito;
Kondo, Mineo;
Tachibana, Toshiaki;
Saitsu, Hirotomo;
Ogata, Tsutomu;
Nakano, Tadashi;
Hotta, Yoshihiro

Publication type:

Article

Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-72623-1

By:

Hayashi, Takaaki;
Kameya, Shuhei;
Mizobuchi, Kei;
Kubota, Daiki;
Kikuchi, Sachiko;
Yoshitake, Kazutoshi;
Mizota, Atsushi;
Murakami, Akira;
Iwata, Takeshi;
Nakano, Tadashi

Publication type:

Article

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65737-z

By:

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

Publication type:

Article

Effectiveness of the Heads-Up Surgery System for Retinal Surgery in a Patient with Severe Photophobia.

Published in:

2021

By:

Saito, Yuka;
Horiguchi, Hiroshi;
Mizobuchi, Kei;
Katagiri, Satoshi;
Gunji, Hisato;
Nakano, Tadashi

Publication type:

Case Study

Clinical and genetic characteristics of 10 Japanese patients with PROM1‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 656, doi. 10.1002/ajmg.c.31826

By:

Fujinami, Kaoru;
Oishi, Akio;
Yang, Lizhu;
Arno, Gavin;
Pontikos, Nikolas;
Yoshitake, Kazutoshi;
Fujinami‐Yokokawa, Yu;
Liu, Xiao;
Hayashi, Takaaki;
Katagiri, Satoshi;
Mizobuchi, Kei;
Mizota, Atsushi;
Shinoda, Kei;
Nakamura, Natsuko;
Kurihara, Toshihide;
Tsubota, Kazuo;
Miyake, Yozo;
Iwata, Takeshi;
Tsujikawa, Akitaka;
Tsunoda, Kazushige

Publication type:

Article

Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2022, v. 260, n. 4, p. 1125, doi. 10.1007/s00417-021-05447-y

By:

Miyagi, Mai;
Takeuchi, Jun;
Koyanagi, Yoshito;
Mizobuchi, Kei;
Hayashi, Takaaki;
Ito, Yasuki;
Terasaki, Hiroko;
Nishiguchi, Koji M.;
Ueno, Shinji

Publication type:

Article

A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan.

Published in:

Frontiers in Medicine, 2024, p. 1, doi. 10.3389/fmed.2024.1442107

By:

Natsuki Higa;
Takaaki Hayashi;
Kei Mizobuchi;
Maki Iwasa;
Shingo Kubota;
Kazuki Kuniyoshi;
Shuhei Kameya;
Hiroyuki Kondo;
Mineo Kondo;
Tadashi Nakano

Publication type:

Article

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing.

Published in:

Human Mutation, 2022, v. 43, n. 12, p. 2251, doi. 10.1002/humu.24492

By:

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

Publication type:

Article

The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1688

By:

Hayashi, Takaaki;
Katagiri, Satoshi;
Kubota, Daiki;
Mizobuchi, Kei;
Ishiuji, Yozo;
Asahina, Akihiko;
Kameya, Shuhei;
Nakano, Tadashi

Publication type:

Article

Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1308

By:

Mizobuchi, Kei;
Hayashi, Takaaki;
Yoshitake, Kazutoshi;
Fujinami, Kaoru;
Tachibana, Toshiaki;
Tsunoda, Kazushige;
Iwata, Takeshi;
Nakano, Tadashi

Publication type:

Article

Multimodal Imaging of Subfoveal Pachydrusen Containing a Blood Flow Signal.

Published in:

Case Reports in Ophthalmological Medicine, 2022, p. 1, doi. 10.1155/2022/5680913

By:

Ishiguro, Naoko;
Hayashi, Takaaki;
Yamawaki, Yoshiko;
Mizobuchi, Kei;
Yasukawa, Tsutomu;
Honda, Shigeru;
Nakano, Tadashi

Publication type:

Article

Clinical Course of OCTA en face Imaging Findings in a Patient with HELLP Syndrome.

Published in:

2022

By:

Konuma, Kokoro;
Mizobuchi, Kei;
Watanabe, Akira;
Nakano, Tadashi

Publication type:

Case Study

Minimally Invasive Surgery for Intraocular Lens Removal and Intrascleral Intraocular Lens Fixation with Trabeculectomy in a Patient with Dislocated Intraocular Lens and Elevated Intraocular Pressure.

Published in:

Case Reports in Ophthalmology, 2021, v. 12, n. 2, p. 538, doi. 10.1159/000511593

By:

Mano, Yuko;
Mizobuchi, Kei;
Watanabe, Tomoyuki;
Watanabe, Akira;
Nakano, Tadashi

Publication type:

Article