Rchr
J-GLOBAL ID：202201002347503880
Update date: Oct. 17, 2023
Torii Kaoruko
Torii Kaoruko
Affiliation and department：
Papers (6)：
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Kaoruko Torii, Sachiko Nishina, Hazuki Morikawa, Kei Mizobuchi, Masakazu Takayama, Nobutaka Tachibana, Kentaro Kurata, Akiko Hikoya, Miho Sato, Tadashi Nakano, et al. The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients. International Journal of Molecular Sciences. 2023. 24. 18. 13678-13678
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Hazuki Morikawa, Sachiko Nishina, Kaoruko Torii, Katsuhiro Hosono, Tadashi Yokoi, Chika Shigeyasu, Masakazu Yamada, Motomichi Kosuga, Maki Fukami, Hirotomo Saitsu, et al. A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene. Human genome variation. 2023. 10. 1. 9-9
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森川 葉月, 仁科 幸子, 林 孝彰, 鳥居 薫子, 細野 克博, 佐藤 美保, 横井 匡, 深見 真紀, 才津 浩智, 東 範行, et al. RPGRIP1遺伝子変異によるレーバー先天盲の臨床像. 日本眼科学会雑誌. 2023. 127. 臨増. 232-232
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Akiko Hikoya, Katsuhiro Hosono, Kaoru Ono, Shinji Arai, Nobutaka Tachibana, Kentaro Kurata, Kaoruko Torii, Miho Sato, Hirotomo Saitsu, Tsutomu Ogata, et al. A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants. Ophthalmic genetics. 2022. 44. 5. 1-6
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Nobutaka Tachibana, Katsuhiro Hosono, Shuhei Nomura, Shinji Arai, Kaoruko Torii, Kentaro Kurata, Miho Sato, Shuichi Shimakawa, Noriyuki Azuma, Tsutomu Ogata, et al. Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa. Genes. 2022. 13. 2
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MISC (2)：
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鳥居 薫子, 根岸 貴志, 細野 克博, 澤田 麻友, 彦谷 明子, 佐藤 美保, 堀田 喜裕. 慢性進行性外眼筋麻痺の口腔粘膜からの遺伝子診断の試み. 日本眼科学会雑誌. 2012. 116. 臨増. 228-228
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鳥居 薫子, 澤田 麻友, 根岸 貴志, 彦谷 明子, 堀田 喜裕, 佐藤 美保. 外転神経麻痺に続発して発症した周期性内斜視の1例. 眼科臨床紀要. 2010. 3. 12. 1284-1284
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