Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report

por Uike, Kiyoshi, Matsushita, Yuki, Sakai, Yasunari, Togao, Osamu, Nagao, Michinobu, Ishizaki, Yoshito, Nagata, Hazumu, Yamamura, Kenichiro, Torisu, Hiroyuki, Hara, Toshiro
Publicado 2013

Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells

por Ohkubo, Kazuhiro, Sakai, Yasunari, Inoue, Hirosuke, Akamine, Satoshi, Ishizaki, Yoshito, Matsushita, Yuki, Sanefuji, Masafumi, Torisu, Hiroyuki, Ihara, Kenji, Sardiello, Marco, Hara, Toshiro
Publicado 2015

A rightward saccade to an unexpected stimulus as a marker for lateralised visuospatial attention

por Sanefuji, Masafumi, Yamashita, Hiroshi, Torio, Michiko, Katsuki, Daisuke, Akamine, Satoshi, Ishizaki, Yoshito, Kishimoto, Junji, Sakai, Yasunari, Takada, Hidetoshi, Yoshida, Keiko, Ohga, Shouichi
Publicado 2018

Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome

por Sakai, Yasunari, Souzaki, Ryota, Yamamoto, Hidetaka, Matsushita, Yuki, Nagata, Hazumu, Ishizaki, Yoshito, Torisu, Hiroyuki, Oda, Yoshinao, Taguchi, Tomoaki, Shaw, Chad A, Hara, Toshiro
Publicado 2014

Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice

por Matsushita, Yuki, Sakai, Yasunari, Shimmura, Mitsunori, Shigeto, Hiroshi, Nishio, Miki, Akamine, Satoshi, Sanefuji, Masafumi, Ishizaki, Yoshito, Torisu, Hiroyuki, Nakabeppu, Yusaku, Suzuki, Akira, Takada, Hidetoshi, Hara, Toshiro
Publicado 2016

Corrigendum: Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice

por Matsushita, Yuki, Sakai, Yasunari, Shimmura, Mitsunori, Shigeto, Hiroshi, Nishio, Miki, Akamine, Satoshi, Sanefuji, Masafumi, Ishizaki, Yoshito, Torisu, Hiroyuki, Nakabeppu, Yusaku, Suzuki, Akira, Takada, Hidetoshi, Hara, Toshiro
Publicado 2016

Sustained endocrine profiles of a girl with WAGR syndrome

por Takada, Yui, Sakai, Yasunari, Matsushita, Yuki, Ohkubo, Kazuhiro, Koga, Yuhki, Akamine, Satoshi, Torio, Michiko, Ishizaki, Yoshito, Sanefuji, Masafumi, Torisu, Hiroyuki, Shaw, Chad A., Kagami, Masayo, Hara, Toshiro, Ohga, Shouichi
Publicado 2017

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis

por Kanemasa, Hikaru, Fukai, Ryoko, Sakai, Yasunari, Torio, Michiko, Miyake, Noriko, Lee, Sooyoung, Ono, Hiroaki, Akamine, Satoshi, Nishiyama, Kei, Sanefuji, Masafumi, Ishizaki, Yoshito, Torisu, Hiroyuki, Saitsu, Hirotomo, Matsumoto, Naomichi, Hara, Toshiro
Publicado 2016

A childhood-onset intestinal toxemia botulism during chemotherapy for relapsed acute leukemia

por Ohyama, Noriko, Torio, Michiko, Nakashima, Kentaro, Koga, Yuuki, Kanno, Shunsuke, Nishio, Hisanori, Nishiyama, Kei, Sasazuki, Momoko, Kato, Haru, Asakura, Hiroshi, Akamine, Satoshi, Sanefuji, Masafumi, Ishizaki, Yoshito, Sakai, Yasunari, Ohga, Shouichi
Publicado 2017

Decision-making dilemmas of paediatricians: a qualitative study in Japan

por Sasazuki, Momoko, Sakai, Yasunari, Kira, Ryutaro, Toda, Naoko, Ichimiya, Yuko, Akamine, Satoshi, Torio, Michiko, Ishizaki, Yoshito, Sanefuji, Masafumi, Narama, Miho, Itai, Koichiro, Hara, Toshiro, Takada, Hidetoshi, Kizawa, Yoshiyuki, Ohga, Shouichi
Publicado 2019

Assessment of Pediatric Admissions for Kawasaki Disease or Infectious Disease During the COVID-19 State of Emergency in Japan

por Hara, Takuya, Furuno, Kenji, Yamamura, Kenichiro, Kishimoto, Junji, Mizuno, Yumi, Murata, Kenji, Onoyama, Sagano, Hatae, Ken, Takemoto, Megumi, Ishizaki, Yoshito, Kanno, Shunsuke, Sato, Kazuo, Motomura, Yoshitomo, Sakai, Yasunari, Ohga, Shouichi, Yashiro, Mayumi, Nakamura, Yoshikazu, Hara, Toshiro
Publicado 2021

Early‐onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2

por Akamine, Satoshi, Sagata, Noriaki, Sakai, Yasunari, Kato, Takahiro A., Nakahara, Takeshi, Matsushita, Yuki, Togao, Osamu, Hiwatashi, Akio, Sanefuji, Masafumi, Ishizaki, Yoshito, Torisu, Hiroyuki, Saitsu, Hirotomo, Matsumoto, Naomichi, Hara, Toshiro, Sawa, Akira, Kano, Shinichi, Furue, Masutaka, Kanba, Shigenobu, Shaw, Chad A., Ohga, Shouichi
Publicado 2017