Rchr
J-GLOBAL ID：202201006839468023   Update date: Jun. 13, 2024

Yamoto Kaori

ヤモト カオリ | Yamoto Kaori
Affiliation and department：
Hamamatsu University School of Medicine

About Hamamatsu University School of Medicine


Research theme for competitive and other funds  (1)：
  • 2021 - 2023 先天性四肢形成不全症を招く新規疾患成立機序の解明
Papers (19)：
  • Kaori Yamoto, Hirotomo Saitsu, Yumiko Ohkubo, Masayo Kagami, Tsutomu Ogata. Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review. Clinical epigenetics. 2024. 16. 1. 73-73
  • Kaori Yamoto, Fumiko Kato, Masaya Yamoto, Koji Fukumoto, Kenji Shimizu, Hirotomo Saitsu, Tsutomu Ogata. TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis. Congenital anomalies. 2023
  • Kazuyuki Komatsu, Kimiyoshi Sakaguchi, Daisuke Shimizu, Kaori Yamoto, Fumiko Kato, Isao Miyairi, Tsutomu Ogata, Hirotomo Saitsu. Characterization of KMT2A::MATR3 fusion in a patient with acute lymphoblastic leukemia and monitoring of minimal residual disease by nanoplate digital PCR. Pediatric blood & cancer. 2022. 70. 4. e30120
  • Kyoko Fukahori, Kaori Yamoto, Hirotomo Saitsu, Tsutomu Ogata, Keisuke Nagasaki. PORCN-related microphthalmia with limb anomalies: Case report and literature review. American journal of medical genetics. Part A. 2022. 191. 2. 636-639
  • Kaori Yamoto, Satoshi Okada, Fumiko Kato, Yasuko Fujisawa, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata. A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia. American journal of medical genetics. Part A. 2022. 188. 5. 1612-1617
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MISC (17)：
  • 矢本 香織, 永田 絵子, 緒方 勤. 【小児遺伝子疾患事典】骨系統疾患 BHLHA9(関連疾患:裂手裂足症). 小児科診療. 2021. 84. 11. 1689-1692
  • 平出拓也, 平出拓也, 矢本香織, 矢本香織, 増永陽平, 朝比奈美輝, 遠藤雄策, 大久保由美子, 松林朋子, 鶴井聡, et al. 発達遅延または知的障害を呈する101症例に対する遺伝型および表現型解析. 日本人類遺伝学会大会プログラム・抄録集. 2021. 66th (CD-ROM)
  • 小野 裕之, 坂本 理恵子, 清水 大輔, 矢本 香織, 才津 浩智, 西村 玄, 緒方 勤. AFF3は中間肢異形成症の原因遺伝子である. 日本内分泌学会雑誌. 2020. 96. 1. 237-237
  • Yohei Masunaga, Takanobu Inoue, Kaori Yamoto, Yasuko Fujisawa, Yasuhiro Sato, Yuki Kawashima-Sonoyama, Yasuhisa Ohata, Noriyuki Namba, Maki Fukami, Hirotomo Saitsu, et al. IGF2 Mutations: Report of Six Japanese Cases and Phenotypic Comparison with H19/IGF2:IG-DMR Epimutations including literature cases. HORMONE RESEARCH IN PAEDIATRICS. 2019. 91. 124-125
  • 平出 拓也, 中島 光子, 服部 文子, 家田 大輔, 矢本 香織, 福田 冬季子, 加藤 光広, 池田 浩子, 杉江 陽子, 要 匡, et al. SETD1B遺伝子のde novo変異を認めた知的障害・自閉症スペクトラム障害・てんかんを呈する3例. 脳と発達. 2019. 51. Suppl. S326-S326
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