1. A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation. (3rd March 2020) Authors: Hosono, Katsuhiro; Kawase, Kazuhide; Kurata, Kentaro; Niimi, Yusuke; Saitsu, Hirotomo; Minoshima, Shinsei; Ohnishi, Hidenori; Yamamoto, Takahiro; Hikoya, Akiko; Tachibana, Nobutaka; Fukao, Toshiyuki; Yamamoto, Tetsuya; Hotta, Yoshihiro Journal: Ophthalmic genetics Issue: Volume 41:Number 2(2020) Page Start: 175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ATYPICAL FORM OF RETINOPATHY OF PREMATURITY WITH SEVERE FIBROVASCULAR PROLIFERATION IN THE OPTIC DISK REGION. Issue 8 (August 2018) Authors: Yokoi, Tadashi; Katagiri, Satoshi; Hiraoka, Miina; Nakayama, Yuri; Hosono, Katsuhiro; Hotta, Yoshihiro; Nishina, Sachiko; Azuma, Noriyuki Journal: Retina Issue: Volume 38:Issue 8(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene. (March 2014) Authors: Suto, Kimiko; Hosono, Katsuhiro; Takahashi, Masayo; Hirami, Yasuhiko; Arai, Yuki; Nagase, Yasunori; Ueno, Shinji; Terasaki, Hiroko; Minoshima, Shinsei; Kondo, Mineo; Hotta, Yoshihiro Journal: Ophthalmic genetics Issue: Volume 35:Number 1(2014:Mar.) Page Start: 25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo heterozygous variants in KIF5B cause kyphomelic dysplasia. Issue 1 (5th April 2022) Authors: Itai, Toshiyuki; Wang, Zheng; Nishimura, Gen; Ohashi, Hirofumi; Guo, Long; Wakano, Yasuhiro; Sugiura, Takahiro; Hayakawa, Hiromi; Okada, Mayumi; Saisu, Takashi; Kitta, Ayana; Doi, Hiroshi; Kurosawa, Kenji; Hotta, Yoshihiro; Hosono, Katsuhiro; Sato, Miho; Shimizu, Kenji; Takikawa, Kazuharu; Watana... Journal: Clinical genetics Issue: Volume 102:Issue 1(2022) Page Start: 3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients. Issue 10 (17th June 2019) Authors: Koyanagi, Yoshito; Akiyama, Masato; Nishiguchi, Koji M; Momozawa, Yukihide; Kamatani, Yoichiro; Takata, Sadaaki; Inai, Chihiro; Iwasaki, Yusuke; Kumano, Mikako; Murakami, Yusuke; Omodaka, Kazuko; Abe, Toshiaki; Komori, Shiori; Gao, Dan; Hirakata, Toshiaki; Kurata, Kentaro; Hosono, Katsuhiro; Ueno... Journal: Journal of medical genetics Issue: Volume 56:Issue 10(2019) Page Start: 662 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Identification of susceptibility loci for light-induced visual impairment in rats. (September 2021) Authors: Ohishi, Kentaro; Hosono, Katsuhiro; Obana, Akira; Noda, Akio; Hiramitsu, Tadahisa; Hotta, Yoshihiro; Minoshima, Shinsei Journal: Experimental eye research Issue: Volume 210(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Interaction between optineurin and the bZIP transcription factor NRL. (12th September 2013) Authors: Wang, Chunxia; Hosono, Katsuhiro; Ohtsubo, Masafumi; Ohishi, Kentaro; Gao, Jie; Nakanishi, Nobuo; Hikoya, Akiko; Sato, Miho; Hotta, Yoshihiro; Minoshima, Shinsei Journal: Cell biology international Issue: Volume 38:Number 1(2014) Page Start: 16 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Long‐term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1. Issue 6 (27th March 2020) Authors: 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 Journal: American journal of medical genetics Issue: Volume 182:Issue 6(2020) Page Start: 1500 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Sensorineural hearing loss and hypoplastic cochlea in Axenfeld-Rieger syndrome with FOXC1 mutation. Issue 6 (December 2021) Authors: Yamazaki, Hiroshi; Nakamura, Takeshi; Hosono, Katsuhiro; Yamaguchi, Tomoya; Hiratsuka, Yasuyuki; Hotta, Yoshihiro; Takahashi, Makio Journal: Auris nasus larynx Issue: Volume 48:Issue 6(2021) Page Start: 1204 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations. (19th May 2018) Authors: Nagase, Yasunori; Kurata, Kentaro; Hosono, Katsuhiro; Suto, Kimiko; Hikoya, Akiko; Nakanishi, Hiroshi; Mizuta, Kunihiro; Mineta, Hiroyuki; Minoshima, Shinsei; Hotta, Yoshihiro Journal: Seminars in ophthalmology Issue: Volume 33:Number 4(2018) Page Start: 560 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗