Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Yoko Aoki"'
Autor:
Hiroshi, Ninomiya, Michio, Ozeki, Akifumi, Nozawa, Shiho, Yasue, Saori, Endo, Masayuki, Inuzuka, Natsuko, Obara, Kiyofumi, Mochizuki, Masaya, Kawaguchi, Yo, Kaneko, Naoyuki, Ohe, Yoko, Aoki, Masayuki, Matsuo, Toru, Iwama, Hidenori, Ohnishi
Publikováno v:
Medicine. 101:e28815
McCune-Albright syndrome (MAS) is a rare disorder characterized by clinical findings, which includes fibrous dysplasia (FD). FD is a benign tumor that leads to increased rates of bone fracture. In some MAS cases with FD, facial deformities, severe pa
Autor:
Yoshihide Mitani, Naoki Fujimoto, Yoshito Ogihara, Naoki Yamamoto, Hisato Ito, Kaoru Dohi, Yoko Aoki, Hiroyuki Ohashi, Masaaki Ito, Kyoko Imanaka-Yosida
Publikováno v:
Circulation: Cardiovascular Imaging. 12
Autor:
Shun Shimohama, Aki Ishikawa, Emiko Tsuda, Syuuichirou Suzuki, Masashi Aoki, Akihiro Matsumura, Ikuko N. Motoike, Shin Hisahara, Yoko Aoki, Akihiro Sakurai, Ayumi Nishiyama
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Fused - in - sarcoma ( FUS ) mutation is associated with a familial amyotrophic lateral sclerosis (fALS) characterized by early onset and rapid progression. Here, the authors describe a rare case of possible somatic mosaicism of a novel FUS variant f
Autor:
Yoichi Matsubara, Makoto Yoshida, Kenji Fujieda, Yoko Aoki, Yoko Narumi, Yoshio Makita, Tetsuya Niihori, Shigeo Kure
Publikováno v:
Journal of Pediatric Hematology/Oncology. 29:287-290
This is a non-final version of an article published in final form in Makita, Yoshio ; Narumi, Yoko ; Yoshida, Makoto ; Niihori, Tetsuya ; Kure, Shigeo ; Fujieda, Kenji ; Matsubara, Yoichi ; Aoki, Yoko, Leukemia in cardio-facio-cutaneous (CFC) syndrom
Autor:
Kohei Kanaya, Yoko Aoki, Masako Yaoita, Aki Ishikawa, Toshihiko Yamashita, Tetsuya Niihori, Kousuke Iba
Publikováno v:
JBJS Case Connector. 6:e30
Case: A nine-year-old boy had multiple osteochondromas in the hands, feet, and tibiae, many of which pointed toward the adjacent joint. Although several were treated surgically, others resolved spontaneously. A heterozygous mutation in the PTPN11 gen
Autor:
Hirotaka Nakanishi, Masaaki Kato, Gen Sobue, Chigusa Watanabe, Maki Tateyama, Tetsuya Niihori, Naoki Suzuki, Hitoshi Warita, Yoko Aoki, Masashi Aoki, Rumiko Izumi, Kazuma Sugie, Toshiaki Takahashi
Publikováno v:
Neurology: Genetics
Objective: To investigate the genetic causes of suspected dysferlinopathy and to reveal the genetic profile for myopathies with dysferlin deficiency. Methods: Using next-generation sequencing, we analyzed 42 myopathy-associated genes, including DYSF