Negishi Yutaka

根岸豊 | Negishi Yutaka

Affiliation and department：
Research theme for competitive and other funds (2)：

Papers (36)：

Yutaka Negishi, Kenji Kurosawa, Kyoko Takano, Keiko Matsubara, Takeshi Nishiyama, Shinji Saitoh. A nationwide survey of Schaaf-Yang syndrome in Japan. Journal of Human Genetics. 2022. 67. 12. 735-738
Yutaka Negishi, Yusuke Aoki, Kazuya Itomi, Kazushi Yasuda, Hiroaki Taniguchi, Atsushi Ishida, Takeshi Arakawa, Sachiko Miyamoto, Mitsuko Nakashima, Hirotomo Saitsu, et al. SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation. Brain & development. 2021. 43. 7. 804-808
Yuki Maki, Jun Natsume, Ikumi Hori, Tomoya Takeuchi, Yutaka Negishi, Tetsuo Kubota, Koichi Maruyama, Tomohiko Nakata, Hiroyuki Yamamoto, Masaharu Tanaka, et al. Risks of ACTH therapy for West syndrome following BCG vaccination. Epilepsy & Behavior. 2021. 118. 107924-107924
Yutaka Negishi. Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes. PloS one. 2020
Yutaka Negishi. A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome. Human Genome Variation. 2019

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MISC (24)：

根岸豊, 青木雄介, 糸見和也, 武内温子, 岩城利彦, 中島光子, 才津浩智, 齋藤伸治. 発作性心静止に対して心臓ペースメーカー植え込みを行ったSCN8A遺伝子関連てんかん性脳症の1例. 脳と発達. 2021. 53. Suppl. S317-S317
武内温子, 堀いくみ, 田中達之, 青山幸平, 根岸豊, 伊藤孝一, 服部文子, 坂京子, 岡崎康司, 村山圭, et al. 発達の遅れで来院し,急激に退行した4歳女児. 脳と発達. 2020. 52. Suppl. S129-S129
根岸豊, 家田大輔, 中村勇治, 堀いくみ, 服部文子, 野崎靖之, 小牧宏文, 遠山潤, 長崎啓佑, 多田弘子, et al. Schaaf-Yang症候群の臨床像検討とトランスジェニックマウスを用いた病態解析(Truncating mutations in MAGEL2 cause Schaaf-Yang syndrome through toxic effects in fetal development). 脳と発達. 2018. 50. Suppl. S301-S301
家田大輔, 堀いくみ, 中村勇治, 大下裕法, 根岸豊, 篠原務, 服部文子, 加藤丈典, 犬飼幸子, 北村勝誠, et al. 脳室周囲異所性灰白質と結合組織症状を示したFLNA遺伝子変異の女児例. 脳と発達. 2017. 49. Suppl. S423-S423
根岸豊, 家田大輔, 堀いくみ, 服部文子, 野崎靖之, 小牧宏文, 遠山潤, 長崎啓佑, 多田弘子, 正木宏, et al. MAGEL2変異症候群はPrader-Willi症候群より重度の表現型を呈する新規インプリンティング疾患である. 脳と発達. 2017. 49. Suppl. S314-S314

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