Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Keiko Yamamoto, Shimojima"'
Publikováno v:
Tokyo Women's Medical University Journal, Vol 5, Iss 0, Pp 117-122 (2021)
Background: Cryoprecipitate contains high concentrations of fibrinogen (Fib) that is effective for dilutional coagulopathy in massive blood transfusions. The supply of cryoprecipitate by in-house preparation in our hospital began in July 2013. There
Externí odkaz:
https://doaj.org/article/7d5e4f0dabe54e6d80e28750b978ccf6
Autor:
Tomoe Yanagishita, Kaoru Eto, Keiko Yamamoto-Shimojima, Osamu Segawa, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Satoru Nagata, Toshiyuki Yamamoto
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
Abstract A recurrent ZSWIM6 variant, NM_020928.2:c.2737C>T [p.Arg913*], was identified in a Japanese male patient with severe neurodevelopmental delay, epilepsy, distinctive facial features, microcephaly, growth deficiency, abnormal behavior, and fre
Externí odkaz:
https://doaj.org/article/600e11a0285f4005985f092f5858fa45
Autor:
Keiko Yamamoto-Shimojima, Hiroyuki Akagawa, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Toshiyuki Yamamoto
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
Abstract Recently, altered PLP1 splicing was confirmed as a genetic cause of hypomyelination of early myelinating structures (HEMS). A novel deep intronic deletion in intron 3 of PLP1 (NM_000533.5: c.453+59_+259del) was identified, and an in vitro mi
Externí odkaz:
https://doaj.org/article/0f9941090b464af789bacde898510f79
Publikováno v:
Tokyo Women's Medical University Journal, Vol 4, Iss 0, Pp 94-97 (2020)
Megalencephalic leukoencephalopathy with subcortical cysts (MLC; MIM#604004) is a rare congenital disorder of the cerebral white matter. Most MLC patients have MLC1 mutations which are inherited in an autosomal recessive manner. Since there is no est
Externí odkaz:
https://doaj.org/article/9401f4f2a7a8409cb28830940d51c485
Autor:
Tomoe Yanagishita, Kaoru Eto, Keiko Yamamoto-Shimojima, Taichi Imaizumi, Satoru Nagata, Toshiyuki Yamamoto
Publikováno v:
Tokyo Women's Medical University Journal, Vol 4, Iss 0, Pp 85-89 (2020)
Lissencephaly is a severe brain malformation associated with abnormal formation of cerebral sulci. Until now, many genes related to lissencephaly have been identified. Among them, classical lissencephaly has been often related to the platelet activat
Externí odkaz:
https://doaj.org/article/28b4aad2e88d4302ab0ca84325d82c11
Autor:
Tomoe Yanagishita, Keiko Yamamoto-Shimojima, Takayoshi Koike, Hirosato Nasu, Yukitoshi Takahashi, Tomoyuki Akiyama, Satoru Nagata, Toshiyuki Yamamoto
Publikováno v:
Tokyo Women's Medical University Journal, Vol 3, Iss 0, Pp 73-77 (2019)
Pyridoxine-dependent epilepsy (PDE) is an inherited disease with an autosomal recessive trait caused by deficiency of α-amino-adipic semialdehyde (AASA) dehydrogenase encoded by the ALDH7A1 gene. Pyridoxine administration is usually effective for th
Externí odkaz:
https://doaj.org/article/fc05f625b5dc49af910cf78bfea4b28c
Autor:
Osamu, Machida, Keiko Yamamoto, Shimojima, Takashi, Shiihara, Satoshi, Akamine, Ryutaro, Kira, Yuiko, Hasegawa, Eriko, Nishi, Nobuhiko, Okamoto, Satoru, Nagata, Toshiyuki, Yamamoto
Publikováno v:
Intractable Rare Dis Res
Interstitial microdeletions in the proximal region of the long arm of chromosome 6 are rare. Herein we have reported 12 patients with developmental delays associated with interstitial microdeletions in 6q ranging from q12 to q22. The microdeletions w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7209abbafaf1384957f8a496f5552e6
https://doi.org/10.5582/irdr.2022.01065
https://doi.org/10.5582/irdr.2022.01065
Autor:
Takeaki Tamura, Keiko Yamamoto Shimojima, Nobuhiko Okamoto, Hiroshi Yagasaki, Ichiro Morioka, Hitoshi Kanno, Yohei Minakuchi, Atsushi Toyoda, Toshiyuki Yamamoto
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 191(1)
Most chromosomal aberrations revealed by chromosomal microarray testing (CMA) are simple; however, very complex chromosomal structural rearrangements can also be found. Although the mechanism of structural rearrangements has been gradually revealed,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c486576206c545b2da50bb46c8e6a530
https://pubmed.ncbi.nlm.nih.gov/36282026
https://pubmed.ncbi.nlm.nih.gov/36282026
Autor:
Tokito Yamaguchi, Keiko Yamamoto-Shimojima, Hirokazu Oguni, Ryutaro Kira, Ken Momosaki, Taichi Imaizumi, Akihiko Ishiyama, Pin Fee Chong, Shino Shimada, Hiroo Oomatsu, Katsumi Imai, Toshiyuki Seto, Hirokazu Kurahashi, Riyo Ueda, Eri Takeshita, Katsuhiro Kobayashi, Toshiyuki Yamamoto, Tomoe Yanagishita, Shiro Ozasa, Nobuhiko Okamoto, Tomoyuki Akiyama, Yongping Lu, Akihisa Okumura, Hikaru Kitahara
Publikováno v:
Brain and Development. 41:776-782
Background Recently, many genes related to neurodevelopmental disorders have been identified by high-throughput genomic analysis; however, a comprehensive understanding of the mechanism underlying neurodevelopmental disorders remains to be establishe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4a3906a3aaaf6e42457c5ff90bb305e
https://doi.org/10.1016/j.braindev.2019.05.007
https://doi.org/10.1016/j.braindev.2019.05.007
Publikováno v:
Intractable & Rare Diseases Research. 8:198-202
Pelizaeus-Merzbacher disease (PMD) is an X-linked, recessively inherited disorder associated with hypomyelination in the brain white matter. Mutations involving the proteolipid protein 1 gene (PLP1) located on Xq22.2 are responsible for PMD. PLP1 dup
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5d105495230006e568d99d32d159179c
https://doi.org/10.5582/irdr.2019.01067
https://doi.org/10.5582/irdr.2019.01067