De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences

por Hiraide, Takuya, Hattori, Ayako, Ieda, Daisuke, Hori, Ikumi, Saitoh, Shinji, Nakashima, Mitsuko, Saitsu, Hirotomo
Publicado 2019

A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome

por Ieda, Daisuke, Hori, Ikumi, Nakamura, Yuji, Ohashi, Kei, Negishi, Yutaka, Hattori, Ayako, Arisaka, Atsuko, Hasegawa, Setsuko, Saitoh, Shinji
Publicado 2019

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

por Negishi, Yutaka, Ieda, Daisuke, Hori, Ikumi, Nozaki, Yasuyuki, Yamagata, Takanori, Komaki, Hirofumi, Tohyama, Jun, Nagasaki, Keisuke, Tada, Hiroko, Saitoh, Shinji
Publicado 2019

De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes

por Kondo, Yuto, Aoyama, Kohei, Suzuki, Hisato, Hattori, Ayako, Hori, Ikumi, Ito, Koichi, Yoshida, Aya, Koroki, Mari, Ueda, Kentaro, Kosaki, Kenjiro, Saitoh, Shinji
Publicado 2020

Truncating mutation in NFIA causes brain malformation and urinary tract defects

por Negishi, Yutaka, Miya, Fuyuki, Hattori, Ayako, Mizuno, Kentaro, Hori, Ikumi, Ando, Naoki, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Saitoh, Shinji
Publicado 2015

A novel CUL4B splice site variant in a young male exhibiting less pronounced features

por Nakamura, Yuji, Okuno, Yusuke, Muramatsu, Hideki, Kawai, Tomoko, Satou, Kazuhito, Ieda, Daisuke, Hori, Ikumi, Ohashi, Kei, Negishi, Yutaka, Hattori, Ayako, Takahashi, Yoshiyuki, Kojima, Seiji, Saitoh, Shinji
Publicado 2019

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

por Negishi, Yutaka, Miya, Fuyuki, Hattori, Ayako, Johmura, Yoshikazu, Nakagawa, Motoo, Ando, Naoki, Hori, Ikumi, Togawa, Takao, Aoyama, Kohei, Ohashi, Kei, Fukumura, Shinobu, Mizuno, Seiji, Umemura, Ayako, Kishimoto, Yoko, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Nakanishi, Makoto, Saitoh, Shinji
Publicado 2017

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

por Hori, Ikumi, Otomo, Takanobu, Nakashima, Mitsuko, Miya, Fuyuki, Negishi, Yutaka, Shiraishi, Hideaki, Nonoda, Yutaka, Magara, Shinichi, Tohyama, Jun, Okamoto, Nobuhiko, Kumagai, Takeshi, Shimoda, Konomi, Yukitake, Yoshiya, Kajikawa, Daigo, Morio, Tomohiro, Hattori, Ayako, Nakagawa, Motoo, Ando, Naoki, Nishino, Ichizo, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Saitsu, Hirotomo, Kanemura, Yonehiro, Yamasaki, Mami, Kosaki, Kenjiro, Matsumoto, Naomichi, Yoshimori, Tamotsu, Saitoh, Shinji
Publicado 2017