Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

por Hiroyuki Ono, Hirotomo Saitsu, Reiko Horikawa, Shinichi Nakashima, Yumiko Ohkubo, Kumiko Yanagi, Kazuhiko Nakabayashi, Maki Fukami, Yasuko Fujisawa, Tsutomu Ogata
Publicado 2018

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

por Tsutomu Ogata, Tetsuya Niihori, Noriko Tanaka, Masahiko Kawai, Takeshi Nagashima, Ryo Funayama, Keiko Nakayama, Shinichi Nakashima, Fumiko Kato, Maki Fukami, Yoko Aoki, Yoichi Matsubara
Publicado 2014

Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.

por Maki Igarashi, Vu Chi Dung, Erina Suzuki, Shinobu Ida, Mariko Nakacho, Kazuhiko Nakabayashi, Kentaro Mizuno, Yutaro Hayashi, Kenjiro Kohri, Yoshiyuki Kojima, Tsutomu Ogata, Maki Fukami
Publicado 2013

Individual variation of the genetic response to bisphenol a in human foreskin fibroblast cells derived from cryptorchidism and hypospadias patients.

por Xian-Yang Qin, Hideko Sone, Yoshiyuki Kojima, Kentaro Mizuno, Katsuhiko Ueoka, Koji Muroya, Mami Miyado, Aya Hisada, Hiroko Zaha, Tomokazu Fukuda, Jun Yoshinaga, Junzo Yonemoto, Kenjiro Kohri, Yutaro Hayashi, Maki Fukami, Tsutomu Ogata
Publicado 2012

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.

por Tomoko Fuke, Seiji Mizuno, Toshiro Nagai, Tomonobu Hasegawa, Reiko Horikawa, Yoko Miyoshi, Koji Muroya, Tatsuro Kondoh, Chikahiko Numakura, Seiji Sato, Kazuhiko Nakabayashi, Chiharu Tayama, Kenichiro Hata, Shinichiro Sano, Keiko Matsubara, Masayo Kagami, Kazuki Yamazawa, Tsutomu Ogata
Publicado 2013