Works by Takeshi Iwata

Results: 86

Establishment of the Indian Chapter for Asian Eye Genetics Consortium.

Published in:

2016

By:

Takeshi Iwata;
Iwata, Takeshi

Publication type:

Editorial

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

Role of alpha-1 antitrypsin in Bruch's membrane integrity.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-96570-x

By:

Cheng, Shun-Yun;
Giguere, Delaney;
Silverstein, Ilana;
Conza, Adrienne;
Seddon, Johanna M.;
Kim, San;
Iwata, Takeshi;
Mueller, Christian;
Punzo, Claudio

Publication type:

Article

Role of ARMS2/HTRA1 risk alleles in the pathogenesis of neovascular age-related macular degeneration.

Published in:

Taiwan Journal of Ophthalmology, 2024, v. 14, n. 4, p. 531, doi. 10.4103/tjo.TJO-D-23-00152

By:

Pan, Yang;
Iwata, Takeshi

Publication type:

Article

Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.

Published in:

Molecular Vision, 2019, v. 25, p. 559

By:

Akiko Maeda-Katahira;
Natsuko Nakamura;
Takaaki Hayashi;
Satoshi Katagiri;
Satoko Shimizu;
Hisao Ohde;
Tatsuo Matsunaga;
Kimitaka Kaga;
Tadashi Nakano;
Shuhei Kameya;
Tomokazu Matsuura;
Kaoru Fujinami;
Takeshi Iwata;
Kazushige Tsunoda

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

Preparation and Electroluminescent Characteristics of a Series of Cyclometalated Ir(III) Complexes Based on Phenylpyridines with a Diphenylamino Group.

Published in:

Chemistry Letters, 2005, v. 34, n. 10, p. 1378, doi. 10.1246/cl.2005.1378

By:

Nishida, Jun-ichi;
Echizen, Hidenori;
Iwata, Takeshi;
Yamashita, Yoshiro

Publication type:

Article

Preparation, Characterization, and Electroluminescence Characteristics of α-Diimine-type Platinum(II) Complexes with Perfluorinated Phenyl Groups as Ligands.

Published in:

Chemistry Letters, 2005, v. 34, n. 4, p. 592, doi. 10.1246/cl.2005.592

By:

Nishida, Jun-ichi;
Maruyama, Akihiro;
Iwata, Takeshi;
Yamashita, Yoshiro

Publication type:

Article

Photochemical mer → fac One-way Isomerization of Phosphorescent Material. Studies by Time-resolved Spectroscopy for Tris[2-(4',6'-difluorophenyl) pyridine]iridium(III) in Solution.

Published in:

Chemistry Letters, 2003, v. 32, n. 10, p. 886, doi. 10.1246/cl.2003.886

By:

Karatsu, Takashi;
Nakamura, Takeshi;
Yagai, Shiki;
Kitamura, Akihide;
Yamaguchi, Kentaro;
Matsushima, Yoshimasa;
Iwata, Takeshi;
Hori, Yoji;
Hagiwara, Toshimitsu

Publication type:

Article

Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration.

Published in:

2013

By:

Hiroyuki Sakuramoto;
Kazuki Kuniyoshi;
Kazushige Tsunoda;
Masakazu Akahori;
Takeshi Iwata;
Yoshikazu Shimomura

Publication type:

Case Study

Lack of association of LOXL1 gene variants in Japanese patients with central retinal vein occlusion without clinically detectable pseudoexfoliation material deposits.

Published in:

Acta Ophthalmologica (1755375X), 2015, v. 93, n. 3, p. e214, doi. 10.1111/aos.12534

By:

Tanito, Masaki;
Hara, Katsunori;
Akahori, Masakazu;
Harata, Ayano;
Itabashi, Takeshi;
Takai, Yasuyuki;
Kaidzu, Sachiko;
Ohira, Akihiro;
Iwata, Takeshi

Publication type:

Article

Stargardt Disease with Preserved Central Vision: identification of a putative novel mutation in ATP-binding cassette transporter gene.

Published in:

Acta Ophthalmologica (1755375X), 2011, v. 89, n. 3, p. e297, doi. 10.1111/j.1755-3768.2009.01848.x

By:

Fujinami, Kaoru;
Akahori, Masakazu;
Fukui, Masaki;
Tsunoda, Kazushige;
Iwata, Takeshi;
Miyake, Yozo

Publication type:

Article

Elevated Plasma Levels of Drebrin in Glaucoma Patients With Neurodegeneration.

Published in:

Frontiers in Neuroscience, 2019, p. N.PAG, doi. 10.3389/fnins.2019.00326

By:

Gan, Yi-Jing;
Fang, Ai-Wu;
Liu, Chang;
Liu, Bai-Jing;
Yang, Feng-Mei;
Guan, Ji-Tian;
Lan, Chun-Lin;
Dai, Xiao-Dan;
Li, Tong;
Cao, Ying;
Ran, Yun;
Gong, Xian-Hui;
Jin, Zi-Bing;
Cui, Ren-Zhe;
Iwata, Takeshi;
Qu, Jia;
Lu, Fan;
Chi, Zai-Long

Publication type:

Article

Genetic variants associated with glaucomatous visual field loss in primary open-angle glaucoma.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-24915-x

By:

Mabuchi, Fumihiko;
Mabuchi, Nakako;
Sakurada, Yoichi;
Yoneyama, Seigo;
Kashiwagi, Kenji;
Yamagata, Zentaro;
Takamoto, Mitsuko;
Aihara, Makoto;
Iwata, Takeshi;
Hashimoto, Kazuki;
Sato, Kota;
Shiga, Yukihiro;
Nakazawa, Toru;
Akiyama, Masato;
Kawase, Kazuhide;
Ozaki, Mineo;
Araie, Makoto

Publication type:

Article

Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia.

Published in:

Genes, 2023, v. 14, n. 7, p. 1483, doi. 10.3390/genes14071483

By:

Matsushita, Itsuka;
Izumi, Hiroto;
Ueno, Shinji;
Hayashi, Takaaki;
Fujinami, Kaoru;
Tsunoda, Kazushige;
Iwata, Takeshi;
Kiuchi, Yoshiaki;
Kondo, Hiroyuki

Publication type:

Article

Genetic and Phenotypic Landscape of PRPH2 -Associated Retinal Dystrophy in Japan.

Published in:

Genes, 2021, v. 12, n. 11, p. 1817, doi. 10.3390/genes12111817

By:

Oishi, Akio;
Fujinami, Kaoru;
Mawatari, Go;
Naoi, Nobuhisa;
Ikeda, Yasuhiro;
Ueno, Shinji;
Kuniyoshi, Kazuki;
Hayashi, Takaaki;
Kondo, Hiroyuki;
Mizota, Atsushi;
Shinoda, Kei;
Kusuhara, Sentaro;
Nakamura, Makoto;
Iwata, Takeshi;
Tsujikawa, Akitaka;
Tsunoda, Kazushige

Publication type:

Article

HTRA1 Regulates Subclinical Inflammation and Activates Proangiogenic Response in the Retina and Choroid.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810206

By:

Ahamed, Waseem;
Yu, Richard Ming Chuan;
Pan, Yang;
Iwata, Takeshi;
Barathi, Veluchamy Amutha;
Wey, Yeo Sia;
Tun, Sai Bo Bo;
Qiu, Beiying;
Tan, Alison;
Wang, Xiaomeng;
Cheung, Chui Ming Gemmy;
Wong, Tien Yin;
Yanagi, Yasuo

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

A controlled ovarian stimulation procedure suitable for cynomolgus macaques.

Published in:

Experimental Animals, 2022, v. 71, n. 4, p. 426, doi. 10.1538/expanim.21-0198

By:

Nobuhiro SHIMOZAWA;
Takeshi IWATA;
Yasuhiro YASUTOMI

Publication type:

Article

A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family.

Published in:

Ophthalmic Genetics, 2022, v. 43, n. 5, p. 622, doi. 10.1080/13816810.2022.2090010

By:

Berry, Vanita;
Fujinami, Kaoru;
Mochizuki, Kiyofumi;
Iwata, Takeshi;
Pontikos, Nikolas;
Quinlan, Roy A.;
Michaelides, Michel

Publication type:

Article

Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review.

Published in:

Ophthalmic Genetics, 2022, v. 43, n. 3, p. 400, doi. 10.1080/13816810.2021.2023195

By:

Kayazawa, Tomoyasu;
Kuniyoshi, Kazuki;
Hatsukawa, Yoshikazu;
Fujinami, Kaoru;
Yoshitake, Kazutoshi;
Tsunoda, Kazushige;
Shimojo, Hiroshi;
Iwata, Takeshi;
Kusaka, Shunji

Publication type:

Article

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

Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.

Published in:

Ophthalmic Genetics, 2019, v. 40, n. 5, p. 480, doi. 10.1080/13816810.2019.1686159

By:

Kubota, Daiki;
Oishi, Noriko;
Gocho, Kiyoko;
Kikuchi, Sachiko;
Yamaki, Kunihiko;
Igarashi, Tsutomu;
Takahashi, Hiroshi;
Ishida, Nobuo;
Iwata, Takeshi;
Mizota, Atsushi;
Kameya, Shuhei

Publication type:

Article

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

Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants.

Published in:

2018

By:

Kominami, Azusa;
Ueno, Shinji;
Kominami, Taro;
Nakanishi, Ayami;
Ito, Yasuki;
Fujinami, Kaoru;
Tsunoda, Kazushige;
Hayashi, Takaaki;
Kikuchi, Sachiko;
Kameya, Shuhei;
Iwata, Takeshi;
Terasaki, Hiroko

Publication type:

Case Study

RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.

Published in:

Ophthalmic Genetics, 2016, v. 37, n. 2, p. 161, doi. 10.3109/13816810.2014.991931

By:

Katagiri, Satoshi;
Hayashi, Takaaki;
Kondo, Mineo;
Tsukitome, Hideyuki;
Yoshitake, Kazutoshi;
Akahori, Masakazu;
Ikeo, Kazuho;
Tsuneoka, Hiroshi;
Iwata, Takeshi

Publication type:

Article

Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.

Published in:

Ophthalmic Genetics, 2016, v. 37, n. 1, p. 68, doi. 10.3109/13816810.2014.949380

By:

Katagiri, Satoshi;
Hayashi, Takaaki;
Yoshitake, Kazutoshi;
Akahori, Masakazu;
Ikeo, Kazuho;
Gekka, Tamaki;
Tsuneoka, Hiroshi;
Iwata, Takeshi

Publication type:

Article

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).

Published in:

Ophthalmic Genetics, 2015, v. 36, n. 2, p. 137, doi. 10.3109/13816810.2014.991932

By:

Katagiri, Satoshi;
Hayashi, Takaaki;
Yoshitake, Kazutoshi;
Sergeev, Yuri;
Akahori, Masakazu;
Furuno, Masaaki;
Nishino, Jo;
Ikeo, Kazuho;
Tsunoda, Kazushige;
Tsuneoka, Hiroshi;
Iwata, Takeshi

Publication type:

Article

Genetic analysis of Japanese primary open-angle glaucoma patients and clinical characterization of risk alleles near CDKN2B-AS1, SIX6 and GAS7.

Published in:

PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0186678

By:

Shiga, Yukihiro;
Nishiguchi, Koji M.;
Kawai, Yosuke;
Kojima, Kaname;
Sato, Kota;
Fujita, Kosuke;
Takahashi, Mai;
Omodaka, Kazuko;
Araie, Makoto;
Kashiwagi, Kenji;
Aihara, Makoto;
Iwata, Takeshi;
Mabuchi, Fumihiko;
Takamoto, Mitsuko;
Ozaki, Mineo;
Kawase, Kazuhide;
Fuse, Nobuo;
Yamamoto, Masayuki;
Yasuda, Jun;
Nagasaki, Masao

Publication type:

Article

Additive effects of genetic variants associated with intraocular pressure in primary open-angle glaucoma.

Published in:

PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0183709

By:

Mabuchi, Fumihiko;
Mabuchi, Nakako;
Sakurada, Yoichi;
Yoneyama, Seigo;
Kashiwagi, Kenji;
Iijima, Hiroyuki;
Yamagata, Zentaro;
Takamoto, Mitsuko;
Aihara, Makoto;
Iwata, Takeshi;
Kawase, Kazuhide;
Shiga, Yukihiro;
Nishiguchi, Koji M.;
Nakazawa, Toru;
Ozaki, Mineo;
Araie, Makoto;
null, null

Publication type:

Article

The Serine Protease HTRA-1 Is a Biomarker for ROP and Mediates Retinal Neovascularization.

Published in:

Frontiers in Molecular Neuroscience, 2020, v. 13, p. N.PAG, doi. 10.3389/fnmol.2020.605918

By:

Owen, Leah A.;
Shirer, Kinsey;
Collazo, Samuel A.;
Szczotka, Kathryn;
Baker, Shawna;
Wood, Blair;
Carroll, Lara;
Haaland, Benjamin;
Iwata, Takeshi;
Katikaneni, Lakshmi D.;
DeAngelis, Margaret M.

Publication type:

Article

Protein Data Bank Japan: Celebrating our 20th anniversary during a global pandemic as the Asian hub of three dimensional macromolecular structural data.

Published in:

Protein Science: A Publication of the Protein Society, 2022, v. 31, n. 1, p. 173, doi. 10.1002/pro.4211

By:

Bekker, Gert‐Jan;
Yokochi, Masashi;
Suzuki, Hirofumi;
Ikegawa, Yasuyo;
Iwata, Takeshi;
Kudou, Takahiro;
Yura, Kei;
Fujiwara, Toshimichi;
Kawabata, Takeshi;
Kurisu, Genji

Publication type:

Article

New tools and functions in data-out activities at Protein Data Bank Japan (PDBj).

Published in:

Protein Science: A Publication of the Protein Society, 2018, v. 27, n. 1, p. 95, doi. 10.1002/pro.3273

By:

Kinjo, Akira R.;
Bekker, Gert‐Jan;
Wako, Hiroshi;
Endo, Shigeru;
Tsuchiya, Yuko;
Sato, Hiromu;
Nishi, Hafumi;
Kinoshita, Kengo;
Suzuki, Hirofumi;
Kawabata, Takeshi;
Yokochi, Masashi;
Iwata, Takeshi;
Kobayashi, Naohiro;
Fujiwara, Toshimichi;
Kurisu, Genji;
Nakamura, Haruki

Publication type:

Article

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

Progress of macular atrophy during 30 months' follow-up in a patient with spinocerebellar ataxia type1 (SCA1).

Published in:

Documenta Ophthalmologica, 2021, v. 142, n. 1, p. 87, doi. 10.1007/s10633-020-09782-z

By:

Hirose, Ayane;
Katagiri, Satoshi;
Hayashi, Takaaki;
Matsuura, Tomokazu;
Nagai, Norihiro;
Fujinami, Kaoru;
Iwata, Takeshi;
Tsunoda, Kazushige

Publication type:

Article

Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration.

Published in:

Documenta Ophthalmologica, 2019, v. 139, n. 3, p. 171, doi. 10.1007/s10633-019-09705-7

By:

Tsunoda, Kazushige;
Fujinami, Kaoru;
Yoshitake, Kazutoshi;
Iwata, Takeshi

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

Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia.

Published in:

Documenta Ophthalmologica, 2017, v. 134, n. 2, p. 141, doi. 10.1007/s10633-017-9577-y

By:

Ueno, Shinji;
Nakanishi, Ayami;
Sayo, Akira;
Kominami, Taro;
Ito, Yasuki;
Hayashi, Takaaki;
Tsunoda, Kazushige;
Iwata, Takeshi;
Terasaki, Hiroko

Publication type:

Article

Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.

Published in:

Documenta Ophthalmologica, 2015, v. 131, n. 1, p. 71, doi. 10.1007/s10633-015-9497-7

By:

Kuniyoshi, Kazuki;
Sakuramoto, Hiroyuki;
Yoshitake, Kazutoshi;
Ikeo, Kazuho;
Furuno, Masaaki;
Tsunoda, Kazushige;
Kusaka, Shunji;
Shimomura, Yoshikazu;
Iwata, Takeshi

Publication type:

Article

Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy.

Published in:

Documenta Ophthalmologica, 2015, v. 130, n. 1, p. 49, doi. 10.1007/s10633-014-9464-8

By:

Kuniyoshi, Kazuki;
Ikeo, Kazuho;
Sakuramoto, Hiroyuki;
Furuno, Masaaki;
Yoshitake, Kazutoshi;
Hatsukawa, Yoshikazu;
Nakao, Akira;
Tsunoda, Kazushige;
Kusaka, Shunji;
Shimomura, Yoshikazu;
Iwata, Takeshi

Publication type:

Article

Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.

Published in:

Documenta Ophthalmologica, 2014, v. 128, n. 3, p. 211, doi. 10.1007/s10633-014-9435-0

By:

Katagiri, Satoshi;
Akahori, Masakazu;
Hayashi, Takaaki;
Yoshitake, Kazutoshi;
Gekka, Tamaki;
Ikeo, Kazuho;
Tsuneoka, Hiroshi;
Iwata, Takeshi

Publication type:

Article

Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.

Published in:

Documenta Ophthalmologica, 2014, v. 128, n. 3, p. 219, doi. 10.1007/s10633-014-9436-z

By:

Kuniyoshi, Kazuki;
Sakuramoto, Hiroyuki;
Yoshitake, Kazutoshi;
Abe, Kosuke;
Ikeo, Kazuho;
Furuno, Masaaki;
Tsunoda, Kazushige;
Kusaka, Shunji;
Shimomura, Yoshikazu;
Iwata, Takeshi

Publication type:

Article

Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 338, doi. 10.1002/(SICI)1098-1004(1999)13:4<338::AID-HUMU16>3.0.CO;2-0

By:

Mashima, Yukihiko;
Shinoda, Kei;
Ishida, Susumu;
Ozawa, Yoko;
Kudoh, Jun;
Iwata, Takeshi;
Oguchi, Yoshihisa;
Shimizu, Nobuyoshi

Publication type:

Article

Exploring the Genetic Landscape of Childhood Glaucoma.

Published in:

Children, 2024, v. 11, n. 4, p. 454, doi. 10.3390/children11040454

By:

Pan, Yang;
Iwata, Takeshi

Publication type:

Article

Three cases of acute-onset bilateral photophobia.

Published in:

Japanese Journal of Ophthalmology, 2019, v. 63, n. 2, p. 172, doi. 10.1007/s10384-018-00649-0

By:

Ueno, Shinji;
Inooka, Daiki;
Meinert, Monika;
Ito, Yasuki;
Tsunoda, Kazushige;
Fujinami, Kaoru;
Iwata, Takeshi;
Ohde, Hisao;
Terasaki, Hiroko

Publication type:

Article

Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy.

Published in:

Japanese Journal of Ophthalmology, 2017, v. 61, n. 5, p. 395, doi. 10.1007/s10384-017-0522-0

By:

Hayashi, Takaaki;
Sasano, Hiroyuki;
Katagiri, Satoshi;
Tsunoda, Kazushige;
Kameya, Shuhei;
Nakazawa, Mitsuru;
Iwata, Takeshi;
Tsuneoka, Hiroshi

Publication type:

Article

In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.

Published in:

Japanese Journal of Ophthalmology, 2017, v. 61, n. 1, p. 92, doi. 10.1007/s10384-016-0484-7

By:

Ueno, Shinji;
Nakanishi, Ayami;
Kominami, Taro;
Ito, Yasuki;
Hayashi, Takaaki;
Yoshitake, Kazutoshi;
Kawamura, Yuichi;
Tsunoda, Kazushige;
Iwata, Takeshi;
Terasaki, Hiroko

Publication type:

Article

New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.

Published in:

Japanese Journal of Ophthalmology, 2016, v. 60, n. 6, p. 476, doi. 10.1007/s10384-016-0470-0

By:

Kuniyoshi, Kazuki;
Hayashi, Takaaki;
Sakuramoto, Hiroyuki;
Mishima, Hiroshi;
Tsuneoka, Hiroshi;
Tsunoda, Kazushige;
Iwata, Takeshi;
Shimomura, Yoshikazu

Publication type:

Article

Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.

Published in:

Japanese Journal of Ophthalmology, 2016, v. 60, n. 3, p. 187, doi. 10.1007/s10384-016-0424-6

By:

Kuniyoshi, Kazuki;
Muraki-Oda, Sanae;
Ueyama, Hisao;
Toyoda, Futoshi;
Sakuramoto, Hiroyuki;
Ogita, Hisakazu;
Irifune, Motohiro;
Yamamoto, Shuji;
Nakao, Akira;
Tsunoda, Kazushige;
Iwata, Takeshi;
Ohji, Masahito;
Shimomura, Yoshikazu

Publication type:

Article

Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome.

Published in:

Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35152-6

By:

Katagiri, Satoshi;
Hayashi, Takaaki;
Yoshitake, Kazutoshi;
Murai, Noriyuki;
Matsui, Zenichi;
Kubo, Hiroyuki;
Satoh, Hiroyuki;
Matsufuji, Senya;
Takamura, Tsuyoshi;
Yokoo, Takashi;
Omori, Yoshihiro;
Furukawa, Takahisa;
Iwata, Takeshi;
Nakano, Tadashi

Publication type:

Article