Yoshida Takeshi

ヨシダタケシ | Yoshida Takeshi

Affiliation and department：
Job title： Assistant Professor

Research field (1)： Fetal medicine/Pediatrics

Research theme for competitive and other funds (4)：

2022 - 2025 知的障害患者に対する治療や療育効果判定のための視線計測によるバイオマーカーの確立
2022 - 2025 Application of MR Fingerprinting in Pediatric Brain MRI
2020 - 2023 Identification of a novel gene causing genetic disorder of copper metabolism
2017 - 2020 Establishment of a multi-lineage model of infantile Pompe disease using patient-derived iPS cells

Papers (60)：

Taro Matsuoka, Takeshi Yoshida, Kengo Kora, Naoko Yano, Yoshihiro Taura, Takashi Nakamura, Takenori Tozawa, Jun Mori, Tomohiro Chiyonobu. A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8. Human Genome Variation. 2024
Shogo Furukawa, Mitsuhiro Kato, Akihiko Ishiyama, Tomohiro Kumada, Takeshi Yoshida, Eri Takeshita, Pin Fee Chong, Hideo Yamanouchi, Yuko Kotake, Takayoshi Kyoda, et al. Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield. Journal of human genetics. 2024
Amane Matsuura, Takenori Tozawa, Masaharu Moroto, Yosuke Miyamoto, Yasuhiro Kawabe, Masashi Zuiki, Tatsuji Hasegawa, Taisei Kayaki, Naoko Yano, Takeshi Yoshida, et al. Alternating cerebral edema and arterial dilations in Molybdenum cofactor deficiency type-A. Journal of Inherited Metabolic Disease. 2024
直子矢野, Pin Fee Chong, Kenji K Kojima, Tomoichiro Miyoshi, Ahmad Luqmen-Fatah, Yu Kimura, Kengo Kora, Taisei Kayaki, Kanako Maizuru, Takahiro Hayashi, et al. Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron ofATP7Aas a novel cause of occipital horn syndrome. Journal of Medical Genetics. 2024
Tomoo Daifu, Katsutsugu Umeda, Atsushi Yokoyama, Takeshi Yoshida, Satoshi Saida, Itaru Kato, Hidefumi Hiramatsu, Ko Kudo, Yoshihisa Higuchi, Junko Takita. Juvenile xanthogranuloma manifesting with LCH-associated neurodegenerative disease-like radiological findings. Pediatric Blood & Cancer. 2024

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MISC (29)：

戸島麻耶, 下竹昭寛, 音成秀一郎, 音成秀一郎, 宇佐美清英, 松橋眞生, 吉田健司, 伏見育崇, 山尾幸広, 菊池隆幸, et al. Systematic analysis of candidates of epilepsy surgery: trial of “Specific Consistency Score” with weighting. 日本てんかん外科学会プログラム・抄録集. 2020. 44th
吉田健司, 横山淳史, 中川奈保子, 和田敬仁, 小杉眞司. IRUDと小児神経疾患 IRUDプロジェクトにおける診療拠点としての立場から. 脳と発達. 2019. 51. Suppl. S106-S106
仁平寛士, 井澤和司, 伊佐真彦, 芝剛, 本田吉孝, 下寺佐栄子, 柴田洋史, 田中孝之, 八角高裕, 矢野直子, et al. 反復性高サイトカイン血症、慢性炎症を呈したKARS遺伝子異常症の1例. 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2018. 28回. 73-73
仁平寛士, 井澤和司, 伊佐真彦, 芝剛, 本田吉孝, 下寺佐栄子, 柴田洋史, 田中孝之, 八角高裕, 矢野直子, et al. 反復性高サイトカイン血症、慢性炎症を呈したKARS遺伝子異常症の1例. 日本小児リウマチ学会総会・学術集会プログラム・抄録集. 2018. 28回. 111-111
平田惟子, 吉田健司, 横山淳史, 舞鶴賀奈子, 西小森隆太. 感染を契機にバルプロ酸によるFanconi症候群を来たした1歳重症心身障害女児例. 日本小児科学会雑誌. 2018. 122. 7. 1249-1249

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Professional career (1)：

博士(医学) (京都大学)

Association Membership(s) (5)：

Japan Muscle Society , The Japan Society of Human Genetics , The Japan Epilepsy Society , The Japanese Society of Child Neurology , Japan Pediatric Society

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