Rchr
J-GLOBAL ID：202201006839468023
Update date: Nov. 17, 2024
Yamoto Kaori
ヤモト カオリ | Yamoto Kaori
Affiliation and department：
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 (21)：
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Kazuyuki Komatsu, Mitsuhiro Kato, Kazuo Kubota, Shinobu Fukumura, Keitaro Yamada, Ikumi Hori, Kenji Shimizu, Sachiko Miyamoto, Kaori Yamoto, Takuya Hiraide, et al. Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing. Scientific reports. 2024. 14. 1. 24746-24746
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Tatsuki Urakawa, Hidenobu Soejima, Kaori Yamoto, Kaori Hara-Isono, Akie Nakamura, Sayaka Kawashima, Hiromune Narusawa, Rika Kosaki, Yutaka Nishimura, Kazuki Yamazawa, et al. Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance. Clinical epigenetics. 2024. 16. 1. 138-138
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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
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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
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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
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MISC (17)：
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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
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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)
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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
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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
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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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