ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus

Por Shinohara, Mayu, Saitoh, Makiko, Nishizawa, Daisuke, Ikeda, Kazutaka, Hirose, Shinichi, Takanashi, Jun-ichi, Takita, Junko, Kikuchi, Kenjiro, Kubota, Masaya, Yamanaka, Gaku, Shiihara, Takashi, Kumakura, Akira, Kikuchi, Masahiro, Toyoshima, Mitsuo, Goto, Tomohide, Yamanouchi, Hideo, Mizuguchi, Masashi
Publicado em 2013

Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome

Por Miyake, Noriko, Kurotaki, Naohiro, Sugawara, Hirobumi, Shimokawa, Osamu, Harada, Naoki, Kondoh, Tatsuro, Tsukahara, Masato, Ishikiriyama, Satoshi, Sonoda, Tohru, Miyoshi, Yoko, Sakazume, Satoru, Fukushima, Yoshimitsu, Ohashi, Hirofumi, Nagai, Toshiro, Kawame, Hiroshi, Kurosawa, Kenji, Touyama, Mayumi, Shiihara, Takashi, Okamoto, Nobuhiko, Nishimoto, Junji, Yoshiura, Ko-ichiro, Ohta, Tohru, Kishino, Tatsuya, Niikawa, Norio, Matsumoto, Naomichi
Publicado em 2003

De Novo Mutations in GNAO1, Encoding a Gα(o) Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

Por Nakamura, Kazuyuki, Kodera, Hirofumi, Akita, Tenpei, Shiina, Masaaki, Kato, Mitsuhiro, Hoshino, Hideki, Terashima, Hiroshi, Osaka, Hitoshi, Nakamura, Shinichi, Tohyama, Jun, Kumada, Tatsuro, Furukawa, Tomonori, Iwata, Satomi, Shiihara, Takashi, Kubota, Masaya, Miyatake, Satoko, Koshimizu, Eriko, Nishiyama, Kiyomi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Hayasaka, Kiyoshi, Ogata, Kazuhiro, Fukuda, Atsuo, Matsumoto, Naomichi, Saitsu, Hirotomo
Publicado em 2013