Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Hiromi, Aoi"'
Autor:
Yuta Asakura, Hitoshi Osaka, Hiromi Aoi, Takeshi Mizuguchi, Naomichi Matsumoto, Takanori Yamagata
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Abstract Mutations in a number of genes related to chromosomal segregation reportedly cause developmental disorders, e.g., chromosome alignment-maintaining phosphoprotein 1 (CHAMP1). We report on an 8-year-old Japanese girl who presented with a devel
Externí odkaz:
https://doaj.org/article/63d19bbcd17e4d5884dca79bdaf176ca
Autor:
Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Many causative genes are known for epileptic or developmental and epileptic encephalopathies (EE/DEE) yet a genetic diagnosis cannot be made for many patients. Here, the authors analyse whole exome sequencing data from a Japanese case−control cohor
Externí odkaz:
https://doaj.org/article/16a9920cc8234e80bb6236676c9ac817
Autor:
Eri Imagawa, Rie Seyama, Hiromi Aoi, Yuri Uchiyama, Bruno Guimaraes Marcarini, Isabel Furquim, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim, Naomichi Matsumoto
Publikováno v:
Clinical Genetics. 103:383-391
Publikováno v:
Polymer Chemistry. 14:1736-1742
We investigated the ROMP of 1 and 2, and revealed the glass transition temperature and pyrolysis mechanisms of the resulting (co)polymers (with norbornene).
Autor:
Tatsuya Watanabe, Hiromi Aoi, Yuki Abe, Takeshi Mizuguchi, Tatsuro Nawa, Toshihiko Uchida, Naomichi Matsumoto, Yoshie Sakurai, Kazuhiro Haginoya
Publikováno v:
Brain and Development. 43:863-866
Background Joubert syndrome is an autosomal recessive or X-linked genetic disease with a cerebellar vermis defect or hypoplasia, hypotonia, ocular dyskinesia, and mental retardation. In neonates, respiratory problems such as apnea and tachypnea are n
Autor:
Hiromi Aoi, Shotaro Kato, Hajime Ohtani, Sachiko Sakaigawa, Takumi Okita, Yasuyo Nishida, Yoshihiro Kudo
Publikováno v:
Journal of Analytical and Applied Pyrolysis. 171:105949
Autor:
Rie Seyama, Yuri Uchiyama, José Ricard Magliocco Ceroni, Veronica Eun Hue Kim, Isabel Furquim, Rachel Sayuri Honjo, Matheus Augusto Araujo Castro, Lucas Vieira Lacerda Pires, Hiromi Aoi, Kazuhiro Iwama, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Atsuo Itakura, Débora R. Bertola, Chong Ae Kim, Naomichi Matsumoto
Publikováno v:
Genomics. 114(5)
Recent studies suggest that transcript isoforms significantly overlap (approximately 60%) between brain tissue and Epstein-Barr virus-transformed lymphoblastoid cell lines (LCLs). Interestingly, 14 cohesion-related genes with variants that cause Corn
Autor:
Takanori Yamagata, Yuta Asakura, Hitoshi Osaka, Naomichi Matsumoto, Takeshi Mizuguchi, Hiromi Aoi
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Human Genome Variation
Human Genome Variation
Mutations in a number of genes related to chromosomal segregation reportedly cause developmental disorders, e.g., chromosome alignment-maintaining phosphoprotein 1 (CHAMP1). We report on an 8-year-old Japanese girl who presented with a developmental
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