Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Katsuhiro, Hosono"'
Autor:
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
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
Abstract We report a 1-year-old girl with congenital stromal corneal dystrophy confirmed by genetic analysis. The ocular phenotype included diffuse opacity over the corneal stroma bilaterally. We performed a genetic analysis to provide counseling to
Externí odkaz:
https://doaj.org/article/de27436ffd084792a034d5c935776302
Autor:
Kentaro Kurata, Katsuhiro Hosono, Masakazu Takayama, Masahisa Katsuno, Hirotomo Saitsu, Tsutomu Ogata, Yoshihiro Hotta
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 25, Iss , Pp 101298- (2022)
Purpose: To report the clinical findings of a Japanese patient presenting with retinitis pigmentosa (RP) together with optic neuropathy and COQ2 mutations. Observations: The patient had experienced night blindness and photophobia since his 20s. At 27
Externí odkaz:
https://doaj.org/article/41e8f65e121f4a23a0ce2fd377b8d3e1
Autor:
Satoshi Katagiri, Maki Iwasa, Takaaki Hayashi, Katsuhiro Hosono, Takahiro Yamashita, Kazuki Kuniyoshi, Shinji Ueno, Mineo Kondo, Hisao Ueyama, Hisakazu Ogita, Yoshinori Shichida, Hidehito Inagaki, Hiroki Kurahashi, Hiroyuki Kondo, Masahito Ohji, Yoshihiro Hotta, Tadashi Nakano
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
Abstract Blue cone monochromacy (BCM) is characterized by loss of function of both OPN1LW (the first) and OPN1MW (the downstream) genes on the X chromosome. The purpose of this study was to investigate the first and downstream genes in the OPN1LW/OPN
Externí odkaz:
https://doaj.org/article/d2b4e4b53c8d4f56bc9d219b8c1394a3
Autor:
Akiko Hikoya, Katsuhiro Hosono, Kaoru Ono, Shinji Arai, Nobutaka Tachibana, Kentaro Kurata, Kaoruko Torii, Miho Sato, Hirotomo Saitsu, Tsutomu Ogata, Yoshihiro Hotta
Publikováno v:
Ophthalmic Genetics. :1-6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b5a7118dd25ccd8c76d51633d65763c5
https://doi.org/10.1080/13816810.2022.2141788
https://doi.org/10.1080/13816810.2022.2141788
Publikováno v:
Case Reports in Ophthalmology, Vol 8, Iss 1, Pp 237-244 (2017)
Background: This report describes a 45-year-old man with complete congenital stationary night blindness (CSNB1) who has been followed up for 38 years. Case: The patient first visited our hospital as a 7-year-old boy with a complaint of low visual acu
Externí odkaz:
https://doaj.org/article/0f722025218c4c1ba35d9e71b9c7b8f3
Autor:
Yu Takeda, Hiroko Suzuki, Katsuhiro Hosono, Akiko Hikoya, Miwa Komori, Risako Inagaki, Takashi Haseoka, Shinji Arai, Yuri Takagi, Yoshihiro Hotta, Miho Sato
Publikováno v:
Japanese Journal of Ophthalmology. 66:314-319
Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by slowly progressive ptosis and limitations in ocular motility. Although exophthalmos is not considered to be a common feature of CPEO, this study focused o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cdfd6e7a3a29d2f178f136a1c1d161d
https://doi.org/10.1007/s10384-022-00920-5
https://doi.org/10.1007/s10384-022-00920-5
Autor:
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
Publikováno v:
Clinical Genetics. 102:3-11
Kyphomelic dysplasia is a heterogeneous group of skeletal dysplasias characterized by severe bowing of the limbs associated with other variable findings, such as narrow thorax and abnormal facies. We searched for the genetic etiology of this disorder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61e4a56b41e3fcee9648b8fe476032a7
https://doi.org/10.1111/cge.14133
https://doi.org/10.1111/cge.14133
Autor:
Takeshi Nakamura, Yoshihiro Hotta, Makio Takahashi, Tomoya Yamaguchi, Katsuhiro Hosono, Hiroshi Yamazaki, Yasuyuki Hiratsuka
Publikováno v:
Auris Nasus Larynx. 48:1204-1208
Objective Axenfeld-Rieger syndrome (ARS) type 3 is a rare autosomal dominant disease, characterized by anterior segment dysgenesis of the eye, hearing loss, and cardiac defects. ARS type 3 is highly associated with FOXC1 mutations, which induces deve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d44aa7c427285b8c077dfeb3b8149610
https://doi.org/10.1016/j.anl.2020.07.006
https://doi.org/10.1016/j.anl.2020.07.006
Autor:
Shizuka Ishitani, Kenjiro Kosaki, Sachiko Nishina, Kaoru Tomita, Tohru Ishitani, Maki Fukami, Tadashi Yokoi, Tsutomu Ogata, Hirotomo Saitsu, Yoshihiro Hotta, Katsuhiro Hosono, Noriyuki Azuma, Tomoyo Yoshida
Publikováno v:
Journal of Human Genetics
CDK9 has been considered a candidate gene involved in the CHARGE-like syndrome in a pair of cousins. We report an 8-year-old boy with a strikingly similar phenotype including facial asymmetry, microtia with preauricular tags and bilateral hearing los
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cb38c6ff2b30acd49b710687c4f52b8
https://doi.org/10.1038/s10038-021-00909-x
https://doi.org/10.1038/s10038-021-00909-x
Autor:
Kentaro Kurata, Yasuhiro Ikeda, Yuko Wada, Koh Hei Sonoda, Koji M. Nishiguchi, Michiaki Kubo, Masato Akiyama, Katsuhiro Hosono, Toru Nakazawa, Tatsuro Ishibashi, Shinji Ueno, Sadaaki Takata, Yukihide Momozawa, Dan Gao, Yusuke Iwasaki, Akira Murakami, Yoichiro Kamatani, Chihiro Inai, Mikako Kumano, Yusuke Murakami, Shiori Komori, Hiroko Terasaki, Yoshihiro Hotta, Yoshito Koyanagi
Publikováno v:
Japanese Journal of Ophthalmology. 65:338-343
To investigate the regional differences in the genes and variants causing retinitis pigmentosa (RP) in Japan Retrospective multicenter study In total, 1204 probands of each pedigree clinically diagnosed with nonsyndromic RP were enrolled from 5 Japan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e4a27f82a7408b577d03b1bdc8655dfd
https://doi.org/10.1007/s10384-021-00824-w
https://doi.org/10.1007/s10384-021-00824-w