Proto-oncogene mutations in middle ear cholesteatoma contribute to its pathogenesis

por Satoh, Chisei, Yoshiura, Koh-ichiro, Mishima, Hiroyuki, Yoshida, Haruo, Takahashi, Haruo, Kumai, Yoshihiko
Publicado 2023

Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63

por Otsuki, Yuki, Ueda, Koichi, Satoh, Chisei, Maekawa, Ryuta, Yoshiura, Koh-ichiro, Iseki, Sachiko
Publicado 2016

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report

por Otsuki, Yuki, Ueda, Koichi, Nuri, Takashi, Satoh, Chisei, Maekawa, Ryuta, Yoshiura, Koh-ichiro
Publicado 2020

Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism

por Satoh, Chisei, Maekawa, Ryuta, Kinoshita, Akira, Mishima, Hiroyuki, Doi, Michiko, Miyazaki, Mutsuko, Fukuda, Masafumi, Takahashi, Haruo, Kondoh, Tatsuro, Yoshiura, Koh-ichiro
Publicado 2017

Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities

por Morimoto, Yoshiro, Yoshida, Shintaro, Kinoshita, Akira, Satoh, Chisei, Mishima, Hiroyuki, Yamaguchi, Naohiro, Matsuda, Katsuya, Sakaguchi, Miako, Tanaka, Takeshi, Komohara, Yoshihiro, Imamura, Akira, Ozawa, Hiroki, Nakashima, Masahiro, Kurotaki, Naohiro, Kishino, Tatsuya, Yoshiura, Koh-ichiro, Ono, Shinji
Publicado 2019