Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Toshifumi, Suzuki"'
Autor:
Rie Seyama, Masashi Nishikawa, Yuri Uchiyama, Keisuke Hamada, Yuka Yamamoto, Masahiro Takeda, Takanori Ochi, Monami Kishi, Toshifumi Suzuki, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Takashi Yao, Hidenori Ito, Atsuo Itakura, Kazuhiro Ogata, Koh-ichi Nagata, Naomichi Matsumoto
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract RAC1 at 7p22.1 encodes a RAC family small GTPase that regulates actin cytoskeleton organization and intracellular signaling pathways. Pathogenic RAC1 variants result in developmental delay and multiple anomalies. Here, exome sequencing ident
Externí odkaz:
https://doaj.org/article/94a3131121604b75b7d26b0fca9cac45
Autor:
Toshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, Atsushi Fujita, Yuri Uchiyama, Rie Seyama, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Satoru Takeda, Naomichi Matsumoto
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Abstract We report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly, brachycephaly, prominent forehead, hypertelorism, prominent eyes, thin upper lip, and progenia. Copy nu
Externí odkaz:
https://doaj.org/article/1d597910dd414d9c945f428b1ac217a6
Publikováno v:
The Surgery Journal, Vol 09, Iss 01, Pp e36-e38 (2023)
Intrauterine balloon prolapse sometimes occurs, and the intrauterine balloon must be reinserted. Furthermore, intrauterine balloon tamponade (IBT) failure can necessitate additional invasive procedures. We report a case of cervical cerclage with IBT
Externí odkaz:
https://doaj.org/article/e5a5d1b38dfd4368ab048f2bf7ce8724
Autor:
Toshimitsu Suzuki, Toshifumi Suzuki, Matthieu Raveau, Noriko Miyake, Genki Sudo, Yoshinori Tsurusaki, Takaki Watanabe, Yuki Sugaya, Tetsuya Tatsukawa, Emi Mazaki, Atsushi Shimohata, Itaru Kushima, Branko Aleksic, Tomoko Shiino, Tomoko Toyota, Yoshimi Iwayama, Kentaro Nakaoka, Iori Ohmori, Aya Sasaki, Ken Watanabe, Shinichi Hirose, Sunao Kaneko, Yushi Inoue, Takeo Yoshikawa, Norio Ozaki, Masanobu Kano, Takeyoshi Shimoji, Naomichi Matsumoto, Kazuhiro Yamakawa
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 7, Pp 1117-1131 (2020)
Abstract Objective Neurodevelopmental disorders (NDDs) often associate with epilepsy or craniofacial malformations. Recent large‐scale DNA analyses identified hundreds of candidate genes for NDDs, but a large portion of the cases still remain unexp
Externí odkaz:
https://doaj.org/article/67ede20262d942a7af3cbb0166cf35a4
Publikováno v:
Hypertension Research in Pregnancy. 10:125-128
Autor:
Toshifumi Suzuki, Jun Takeda, Makoto Jinushi, Rie Seyama, Yojiro Maruyama, Shintaro Makino, Mari Kitade, Atsuo Itakura
Publikováno v:
The Surgery Journal, Vol 06, Iss 02, Pp e67-e70 (2020)
Previously we reported laparoscopic removal of compression sutures due to uterine ischemia and related pain, which has two of the difficult aspects: (1) maneuvering the curved needle to perform compression suturing in the narrow surgical field, and (
Externí odkaz:
https://doaj.org/article/9b689aaf013a4837b20f4f2e9754bfd9
Autor:
Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, Kanako Ishizuka, Kazuhiko Nakamura, Masatsugu Tsujii, Takeo Yoshikawa, Tomoko Toyota, Nobuhiko Okamoto, Yoko Hiraki, Ryota Hashimoto, Yuka Yasuda, Shinji Saitoh, Kei Ohashi, Yasunari Sakai, Shouichi Ohga, Toshiro Hara, Mitsuhiro Kato, Kazuyuki Nakamura, Aiko Ito, Chizuru Seiwa, Emi Shirahata, Hitoshi Osaka, Ayumi Matsumoto, Saoko Takeshita, Jun Tohyama, Tomoko Saikusa, Toyojiro Matsuishi, Takumi Nakamura, Takashi Tsuboi, Tadafumi Kato, Toshifumi Suzuki, Hirotomo Saitsu, Mitsuko Nakashima, Takeshi Mizuguchi, Fumiaki Tanaka, Norio Mori, Norio Ozaki, Naomichi Matsumoto
Publikováno v:
Cell Reports, Vol 22, Iss 3, Pp 734-747 (2018)
Recent studies have established important roles of de novo mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of Japanese origin and confirm the “de novo paradigm” of ASDs across ethnicities. Based on
Externí odkaz:
https://doaj.org/article/e51cd53b5a7e46769a72311ea20870dd
Autor:
Masaki Miura, Akihiko Ishiyama, Hiromi Aoi, Akane Kondo, Fumiaki Tanaka, Hiroshi Handa, Yayoi Miyazono, Yuki Hyodo, Yukimi Oyoshi, Satoko Miyatake, Hitoshi Osaka, Naomichi Matsumoto, Kazuhiro Iwama, Lock-Hock Ngu, Tomohide Goto, Long Guo, Noriko Miyake, Naomi Tsuchida, Toshifumi Suzuki, Koichi Tanda, Eriko Koshimizu, Chong Ae Kim, Rachel Sayuri Honjo, Kohei Hamanaka, Tomohiro Sakaguchi, Muzhirah Haniffa, Sachiko Ohori, Yoko Hiraki, Hiromi Fukuda, Shin-ichiro Hamano, Mitsuhiro Kato, Ming Lei, Osamu Kawano, Atsushi Fujita, Ch'ng Gaik Siew, Takeshi Mizuguchi, Toshiyuki Itai, Futoshi Sekiguchi, Yuri Uchiyama, Tohru Okanishi, Takayoshi Koike, Débora Romeo Bertola, Eri Takeshita, Nobuhiko Okamoto, Kazuhiro Haginoya, Masahide Goto, Daisuke Yamaguchi, Hiroshi Matsumoto, Ken Saida, Nozomi Hiraishi, Manami Akasaka, Yoshihiro Maegaki, Shiro Ikegawa, Hiroshi Doi, Masamune Sakamoto, Tetsuya Okazaki, Yoshiyuki Ogawa, Atsushi Takata, Satoru Ikemoto, Yukitoshi Takahashi, Hiroyuki Yamada, Yoshiteru Azuma, Atsuro Daida, Keng Wee Teik
Publikováno v:
Human Mutation. 42:50-65
Many algorithms to detect copy number variations (CNVs) using exome sequencing (ES) data have been reported and evaluated on their sensitivity and specificity, reproducibility, and precision. However, operational optimization of such algorithms for a
Autor:
Kohei Hamanaka, Satoru Takeda, Jun Takeda, Atsushi Fujita, Atsuo Itakura, Takeshi Mizuguchi, Shiori Takeuchi, Hiromi Aoi, Noriko Miyake, Toshifumi Suzuki, Naomichi Matsumoto, Yoshiteru Azuma, Rie Seyama, Eriko Koshimizu, Yuri Uchiyama, Satoko Miyatake, Yuka Yamamoto, Atsushi Takata, Shintaro Makino, Satomi Mitsuhashi, Yojiro Maruyama
Publikováno v:
Journal of Human Genetics. 66:499-507
The objective of this study was to evaluate the efficacy of whole exome sequencing (WES) for the genetic diagnosis of cases presenting with fetal structural anomalies detected by ultrasonography. WES was performed on 19 cases with prenatal structural
Autor:
Atsuo Itakura, Jun Takeda, Yoko Edahiro, Akihiko Gotoh, Jun Ando, Norio Komatsu, Hajime Yasuda, Toshifumi Suzuki, Soji Morishita, Miyuki Tsutsui
Publikováno v:
International Journal of Hematology. 113:106-111
Essential thrombocythemia (ET) mainly affects the elderly, but can also develop in women of childbearing age. The risk of miscarriage and other complications during pregnancy in ET patients are reported to be higher than that compared to the general