Yoshihiro Hotta

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 15

Top Topics

Intellectual Disability

Circulating Tumor

Diabetic Retinopathy

Top Venues

Ophthalmic genetics

Documenta ophthalmologica. Advances in ophthalmology

Journal of human genetics

International journal of molecular sciences

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

Publications

Yoshihiro Hotta, Kaoruko Torii, Masakazu Takayama
Ocular genetics in the Japanese population. Japanese journal of ophthalmology (2024)
Hazuki Morikawa, Sachiko Nishina, Kaoruko Torii, Katsuhiro Hosono, Tadashi Yokoi, Chika Shigeyasu, Masakazu Yamada, Motomichi Kosuga, Maki Fukami, Hirotomo Saitsu, Noriyuki Azuma, Yuichi Hori, Yoshihiro Hotta
A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene. Human genome variation 10 (1) (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)
Nobutaka Tachibana, Katsuhiro Hosono, Shuhei Nomura, Shinji Arai, Kaoruko Torii, Kentaro Kurata, Miho Sato, Shuichi Shimakawa, Noriyuki Azuma, Tsutomu Ogata, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu, Sachiko Nishina, Yoshihiro Hotta
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3 -Congenital Disorders of Glycosylation and RP1 -Related Retinitis Pigmentosa. Genes 13 (2) (2022)
Toshiyuki Itai, Zheng Wang, Gen Nishimura, Hirofumi Ohashi, Long Guo, Yasuhiro Wakano, Takahiro Sugiura, Hiromi Hayakawa, Mayumi Okada, Takashi Saisu, Ayana Kitta, Hiroshi Doi, Kenji Kurosawa, Yoshihiro Hotta, Katsuhiro Hosono, Miho Sato, Kenji Shimizu, Kazuharu Takikawa, Seiji Watanabe, Naho Ikeda, Mitsuyoshi Suzuki, Atsushi Fujita, Yuri Uchiyama, Naomi Tsuchida, Satoko Miyatake, Noriko Miyake, Naomichi Matsumoto, Shiro Ikegawa
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia. Clinical genetics 102 (1) (2022)
Akiko Hikoya, Katsuhiro Hosono, Kaoru Ono, Shinji Arai, Nobutaka Tachibana, Kentaro Kurata, Kaoruko Torii, Miho Sato, Hirotomo Saitsu, Tsutomu Ogata, Yoshihiro Hotta
A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants. Ophthalmic genetics (2022)
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)
Sachiko Nishina, Katsuhiro Hosono, Shizuka Ishitani, Kenjiro Kosaki, Tadashi Yokoi, Tomoyo Yoshida, Kaoru Tomita, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata, Tohru Ishitani, Yoshihiro Hotta, Noriyuki Azuma
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome. Journal of human genetics 66 (10) (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)
Muhammad Nazmul Haque, Masafumi Ohtsubo, Sachiko Nishina, Shiro Nakao, Kazue Yoshida, Katsuhiro Hosono, Kentaro Kurata, Kentaro Ohishi, Maki Fukami, Miho Sato, Yoshihiro Hotta, Noriyuki Azuma, Shinsei Minoshima
Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism. Journal of human genetics 66 (2) (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)
Katsuhiro Hosono, Kazuhide Kawase, Kentaro Kurata, Yusuke Niimi, Hirotomo Saitsu, Shinsei Minoshima, Hidenori Ohnishi, Takahiro Yamamoto, Akiko Hikoya, Nobutaka Tachibana, Toshiyuki Fukao, Tetsuya Yamamoto, Yoshihiro Hotta
A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation. Ophthalmic genetics 41 (2) (2020)
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)
Kentaro Kurata, Katsuhiro Hosono, Yoshihiro Hotta
Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa. Documenta ophthalmologica. Advances in ophthalmology 137 (1) (2018)
Yasunori Nagase, Kentaro Kurata, Katsuhiro Hosono, Kimiko Suto, Akiko Hikoya, Hiroshi Nakanishi, Kunihiro Mizuta, Hiroyuki Mineta, Shinsei Minoshima, Yoshihiro Hotta
Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations. Seminars in ophthalmology 33 (4) (2017)