Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Yukako Muramatsu"'
Autor:
Tomomi Kotani, Hiroyuki Tsuda, Yumiko Ito, Noriyuki Nakamura, Takafumi Ushida, Kenji Imai, Yukako Iitani, Kazuya Fuma, Yukako Muramatsu, Masahiro Hayakawa, Hiroaki Kajiyama
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-6 (2022)
Abstract Background Chromosome 13q deletion syndrome shows variable clinical features related to the different potential breakpoints in chromosome 13q. The severely malformed phenotype is known to be associated with the deletion of a critical region
Externí odkaz:
https://doaj.org/article/54f067df6ad74a9ab42f6b45920435c6
Autor:
Kotaro Narita, Hideki Muramatsu, Satoshi Narumi, Yuji Nakamura, Yusuke Okuno, Kyogo Suzuki, Motoharu Hamada, Naoya Yamaguchi, Atsushi Suzuki, Yosuke Nishio, Anna Shiraki, Ayako Yamamori, Yusuke Tsumura, Fumi Sawamura, Masahiro Kawaguchi, Manabu Wakamatsu, Shinsuke Kataoka, Kohji Kato, Hideyuki Asada, Tetsuo Kubota, Yukako Muramatsu, Hiroyuki Kidokoro, Jun Natsume, Seiji Mizuno, Tomohiko Nakata, Hidehito Inagaki, Naoko Ishihara, Takahiro Yonekawa, Akihisa Okumura, Tomoo Ogi, Seiji Kojima, Tadashi Kaname, Tomonobu Hasegawa, Shinji Saitoh, Yoshiyuki Takahashi
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract Recently, whole-exome sequencing (WES) has been used for genetic diagnoses of patients who remain otherwise undiagnosed. WES was performed in 177 Japanese patients with undiagnosed conditions who were referred to the Tokai regional branch of
Externí odkaz:
https://doaj.org/article/74fa295534ea4b28abbb48acc9d5d11c
Autor:
Yoshihiro Nishida, Kunihiro Ikuta, Atsushi Natsume, Naoko Ishihara, Maki Morikawa, Hiroyuki Kidokoro, Yukako Muramatsu, Norie Nonobe, Kanako Ishizuka, Takuya Takeichi, Miki Kanbe, Seiji Mizuno, Shiro Imagama, Norio Ozaki
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Abstract Neurofibromatosis type 1 (NF1) is a genetic multisystem disorder. Clinicians must be aware of the diverse clinical features of this disorder in order to provide optimal care for it. We have set up an NF1 in-hospital medical care network of s
Externí odkaz:
https://doaj.org/article/dca033207aef4ba5accb41d21df64b1d
Autor:
Kotaro Narita, Hideki Muramatsu, Satoshi Narumi, Yuji Nakamura, Yusuke Okuno, Kyogo Suzuki, Motoharu Hamada, Naoya Yamaguchi, Atsushi Suzuki, Yosuke Nishio, Anna Shiraki, Ayako Yamamori, Yusuke Tsumura, Fumi Sawamura, Masahiro Kawaguchi, Manabu Wakamatsu, Shinsuke Kataoka, Kohji Kato, Hideyuki Asada, Tetsuo Kubota, Yukako Muramatsu, Hiroyuki Kidokoro, Jun Natsume, Seiji Mizuno, Tomohiko Nakata, Hidehito Inagaki, Naoko Ishihara, Takahiro Yonekawa, Akihisa Okumura, Tomoo Ogi, Seiji Kojima, Tadashi Kaname, Tomonobu Hasegawa, Shinji Saitoh, Yoshiyuki Takahashi
Publikováno v:
Scientific reports. 12(1)
Recently, whole-exome sequencing (WES) has been used for genetic diagnoses of patients who remain otherwise undiagnosed. WES was performed in 177 Japanese patients with undiagnosed conditions who were referred to the Tokai regional branch of the Init
Autor:
Tomomi Kotani, Masahiro Hayakawa, Yuichiro Sugiyama, Kazuto Ueda, Hiroyuki Tsuda, Yukako Muramatsu, Tomonori Ishiguro, Tomoyuki Akiyama, Toshimi Michigami, Kanako Tachikawa
Publikováno v:
Brain and Development. 41:721-725
Hypophosphatasia (HPP) is a rare disorder caused by low serum tissue non-specific alkaline phosphatase (ALP) activity due to hypomorphic mutations in the ALPL gene. HPP is characterized by defective bone mineralization. It frequently accompanies pyri
Autor:
Tasuku Mariya, Takema Kato, Takeshi Sugimoto, Syunsuke Miyai, Hidehito Inagaki, Tamae Ohye, Eiji Sugihara, Yukako Muramatsu, Seiji Mizuno, Hiroki Kurahashi
Publikováno v:
Journal of human genetics. 67(6)
Structural analysis of small supernumerary marker chromosomes (sSMCs) has revealed that many have complex structures. Structural analysis of sSMCs by whole genome sequencing using short-read sequencers is challenging however because most present with
Autor:
Norie Nonobe, Seiji Mizuno, Yoshihiro Nishida, Miki Kanbe, Kanako Ishizuka, Hiroyuki Kidokoro, Kunihiro Ikuta, Takuya Takeichi, Atsushi Natsume, Yukako Muramatsu, Norio Ozaki, Maki Morikawa, Naoko Ishihara, Shiro Imagama
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Background: Neurofibromatosis type 1 (NF1) is a genetic multisystem disorder. Clinicians must be aware of the diverse clinical features of this disorder in order to provide optimal care for it. We have set up an NF1 in-hospital medical care network o
Autor:
Seiji Hayashi, Ayako Yasuda, Yuma Kitase, Tetsuo Hattori, Yuichi Kato, Koji Takemoto, Takashi Tachibana, Kuniko Ieda, Eiko Kato, Yukako Muramatsu, Yoshiaki Sato, Hikaru Yamamoto, Makoto Oshiro, Akiko Saito, Masahiro Hayakawa
Publikováno v:
American Journal of Medical Genetics Part A. 179(7):1253-1259
Infants with trisomy 18 (T18) previously had a poor prognosis; however, the intensive care of these patients has markedly diversified the prognosis. We investigated the current situation of patients with T18, clarified factors for survival discharge,
Publikováno v:
International Journal of Behavioral Development. 44:157-165
Previous studies show that newborn infants and adults orient their attention preferentially toward human faces. However, the developmental changes of visual attention captured by face stimuli remain unclear, especially when an explicit top-down proce
Publikováno v:
Child Development. 91:214-235
This study examined developmental changes in Level-2 visual perspective taking (VPT2) in 90 children aged 4-12 years and tested the role of their ability to mentally simulate changes to their bodily locations (self-motion imagery; SMI). Performance o