Showing 1–10 of 10 results
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Research | | Open
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Research |
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
- Yoko Narumi
- , Yoko Aoki
- , Tetsuya Niihori
- , Masahiro Sakurai
- , Hélène Cavé
- , Alain Verloes
- , Kimio Nishio
- , Hirofumi Ohashi
- , Kenji Kurosawa
- , Nobuhiko Okamoto
- , Hiroshi Kawame
- , Seiji Mizuno
- , Tatsuro Kondoh
- , Marie-Claude Addor
- , Anne Coeslier-Dieux
- , Catherine Vincent-Delorme
- , Koichi Tabayashi
- , Masashi Aoki
- , Tomoko Kobayashi
- , Afag Guliyeva
- , Shigeo Kure
- & Yoichi Matsubara
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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
- Yoshinori Tsurusaki
- , Nobuhiko Okamoto
- , Hirofumi Ohashi
- , Tomoki Kosho
- , Yoko Imai
- , Yumiko Hibi-Ko
- , Tadashi Kaname
- , Kenji Naritomi
- , Hiroshi Kawame
- , Keiko Wakui
- , Yoshimitsu Fukushima
- , Tomomi Homma
- , Mitsuhiro Kato
- , Yoko Hiraki
- , Takanori Yamagata
- , Shoji Yano
- , Seiji Mizuno
- , Satoru Sakazume
- , Takuma Ishii
- , Toshiro Nagai
- , Masaaki Shiina
- , Kazuhiro Ogata
- , Tohru Ohta
- , Norio Niikawa
- , Satoko Miyatake
- , Ippei Okada
- , Takeshi Mizuguchi
- , Hiroshi Doi
- , Hirotomo Saitsu
- , Noriko Miyake
- & Naomichi Matsumoto
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Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
- Shoko Komatsuzaki
- , Yoko Aoki
- , Tetsuya Niihori
- , Nobuhiko Okamoto
- , Raoul C M Hennekam
- , Saskia Hopman
- , Hirofumi Ohashi
- , Seiji Mizuno
- , Yoriko Watanabe
- , Hotaka Kamasaki
- , Ikuko Kondo
- , Nobuko Moriyama
- , Kenji Kurosawa
- , Hiroshi Kawame
- , Ryuhei Okuyama
- , Masue Imaizumi
- , Takeshi Rikiishi
- , Shigeru Tsuchiya
- , Shigeo Kure
- & Yoichi Matsubara
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Research |
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Research | | Open
Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing
- Masao Nagasaki
- , Yoko Kuroki
- , Tomoko F. Shibata
- , Fumiki Katsuoka
- , Takahiro Mimori
- , Yosuke Kawai
- , Naoko Minegishi
- , Atsushi Hozawa
- , Shinichi Kuriyama
- , Yoichi Suzuki
- , Hiroshi Kawame
- , Fuji Nagami
- , Takako Takai-Igarashi
- , Soichi Ogishima
- , Kaname Kojima
- , Kazuharu Misawa
- , Osamu Tanabe
- , Nobuo Fuse
- , Hiroshi Tanaka
- , Nobuo Yaegashi
- , Kengo Kinoshita
- , Shiego Kure
- , Jun Yasuda
- & Masayuki Yamamoto
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Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals
- Yumi Yamaguchi-Kabata
- , Jun Yasuda
- , Osamu Tanabe
- , Yoichi Suzuki
- , Hiroshi Kawame
- , Nobuo Fuse
- , Masao Nagasaki
- , Yosuke Kawai
- , Kaname Kojima
- , Fumiki Katsuoka
- , Sakae Saito
- , Inaho Danjoh
- , Ikuko N. Motoike
- , Riu Yamashita
- , Seizo Koshiba
- , Daisuke Saigusa
- , Gen Tamiya
- , Shigeo Kure
- , Nobuo Yaegashi
- , Yoshio Kawaguchi
- , Fuji Nagami
- , Shinichi Kuriyama
- , Junichi Sugawara
- , Naoko Minegishi
- , Atsushi Hozawa
- , Soichi Ogishima
- , Hideyasu Kiyomoto
- , Takako Takai-Igarashi
- , Kengo Kinoshita
- & Masayuki Yamamoto
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Research | | Open
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
- Masao Nagasaki
- , Jun Yasuda
- , Fumiki Katsuoka
- , Naoki Nariai
- , Kaname Kojima
- , Yosuke Kawai
- , Yumi Yamaguchi-Kabata
- , Junji Yokozawa
- , Inaho Danjoh
- , Sakae Saito
- , Yukuto Sato
- , Takahiro Mimori
- , Kaoru Tsuda
- , Rumiko Saito
- , Xiaoqing Pan
- , Satoshi Nishikawa
- , Shin Ito
- , Yoko Kuroki
- , Osamu Tanabe
- , Nobuo Fuse
- , Shinichi Kuriyama
- , Hideyasu Kiyomoto
- , Atsushi Hozawa
- , Naoko Minegishi
- , James Douglas Engel
- , Kengo Kinoshita
- , Shigeo Kure
- , Nobuo Yaegashi
- , Akito Tsuboi
- , Fuji Nagami
- , Hiroshi Kawame
- , Hiroaki Tomita
- , Ichiro Tsuji
- , Jun Nakaya
- , Junichi Sugawara
- , Kichiya Suzuki
- , Masahiro Kikuya
- , Michiaki Abe
- , Naoki Nakaya
- , Noriko Osumi
- , Riu Yamashita
- , Soichi Ogishima
- , Takako Takai
- , Teiji Tominaga
- , Yasuyuki Taki
- , Yoichi Suzuki
- & Masayuki Yamamoto
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HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome
- Tetsuya Niihori
- , Yoko Aoki
- , Nobuhiko Okamoto
- , Kenji Kurosawa
- , Hirofumi Ohashi
- , Seiji Mizuno
- , Hiroshi Kawame
- , Johji Inazawa
- , Toshihiro Ohura
- , Hiroshi Arai
- , Shin Nabatame
- , Kiyoshi Kikuchi
- , Yoshikazu Kuroki
- , Masaru Miura
- , Toju Tanaka
- , Akira Ohtake
- , Isaku Omori
- , Kenji Ihara
- , Hiroyo Mabe
- , Kyoko Watanabe
- , Shinichi Niijima
- , Erika Okano
- , Hironao Numabe
- & Yoichi Matsubara
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Research |
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
- Tetsuya Niihori
- , Yoko Aoki
- , Hirofumi Ohashi
- , Kenji Kurosawa
- , Tatsuro Kondoh
- , Satoshi Ishikiriyama
- , Hiroshi Kawame
- , Hotaka Kamasaki
- , Tsutomu Yamanaka
- , Fumio Takada
- , Kimio Nishio
- , Masahiro Sakurai
- , Hiroshi Tamai
- , Tatsuro Nagashima
- , Yoichi Suzuki
- , Shigeo Kure
- , Kunihiro Fujii
- , Masue Imaizumi
- & Yoichi Matsubara
