Zobrazeno 1 - 10
of 582
pro vyhledávání: '"Tatsuro, Kondoh"'
Autor:
Takahiro Ushijima, Kenichi Kawaguchi, Tadashi Matsumoto, Masaki Takagi, Tatsuro Kondoh, Gen Nishimura, Aritoshi Iida, Shiro Ikegawa, Nobuhiko Haga, Go Kato
Publikováno v:
BMC Research Notes, Vol 11, Iss 1, Pp 1-5 (2018)
Abstract Background Patients with ankylosing spines are susceptible to developing spinal fractures even with minor trauma and can develop early or late neurological injuries. These fractures require early and aggressive surgical management to enable
Externí odkaz:
https://doaj.org/article/dda90dcb55924290825e7ac3ece82936
Autor:
Yo, Hamaguchi, Tatsuro, Kondoh, Masafumi, Fukuda, Kazumi, Yamasaki, Koh-Ichiro, Yoshiura, Hiroyuki, Moriuchi, Mariko, Morii, Masashi, Muramatsu, Takashi, Minami, Motomi, Osato
Publikováno v:
Gene. 835:146663
Down syndrome (DS) is a common congenital disorder caused by trisomy 21. Due to the increase in maternal age with population aging and advances in medical treatment for fatal complications in their early childhood, the prevalence and life expectancy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8ae59f9c9be3a232f9202ce7c12a3a4
https://doi.org/10.1016/j.gene.2022.146663
https://doi.org/10.1016/j.gene.2022.146663
Autor:
Tomoko Fuke, Seiji Mizuno, Toshiro Nagai, Tomonobu Hasegawa, Reiko Horikawa, Yoko Miyoshi, Koji Muroya, Tatsuro Kondoh, Chikahiko Numakura, Seiji Sato, Kazuhiko Nakabayashi, Chiharu Tayama, Kenichiro Hata, Shinichiro Sano, Keiko Matsubara, Masayo Kagami, Kazuki Yamazawa, Tsutomu Ogata
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e60105 (2013)
BackgroundRecent studies have revealed relative frequency and characteristic phenotype of two major causative factors for Silver-Russell syndrome (SRS), i.e. epimutation of the H19-differentially methylated region (DMR) and uniparental maternal disom
Externí odkaz:
https://doaj.org/article/8288174ccaaa4443a29a1247cb62d067
Autor:
Kenichi Kawaguchi, Gen Nishimura, Takahiro Ushijima, Aritoshi Iida, Tadashi Matsumoto, Shiro Ikegawa, Masaki Takagi, Go Kato, Tatsuro Kondoh, Nobuhiko Haga
Publikováno v:
BMC Research Notes, Vol 11, Iss 1, Pp 1-5 (2018)
BMC Research Notes
BMC Research Notes
Background Patients with ankylosing spines are susceptible to developing spinal fractures even with minor trauma and can develop early or late neurological injuries. These fractures require early and aggressive surgical management to enable spinal st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c8d2be383ba39cf2748ef6688e0d506
http://link.springer.com/article/10.1186/s13104-018-3227-7
http://link.springer.com/article/10.1186/s13104-018-3227-7
Autor:
Hiroyuki Moriuchi, Hiroyuki Nunoi, Midori Motokawa, Kanako Morifuji, Tatsuro Kondoh, Akiko Nakatomi, Hirotake Sawada, Sumito Dateki, Koh-ichiro Yoshiura, Toyoki Nishimura, Tadashi Matsumoto, Satoshi Watanabe
Publikováno v:
Journal of Human Genetics. 63(3):387-390
Takenouchi-Kosaki syndrome (TKS) is a congenital malformation syndrome characterized by severe developmental delay, macrothrombocytopenia, camptodactyly, sensorineural hearing loss, and dysmorphic facial features. Recently, a heterozygous de novo mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71688b8617885d93086c428116ab1b67
https://nagasaki-u.repo.nii.ac.jp/records/1657
https://nagasaki-u.repo.nii.ac.jp/records/1657
Autor:
Jinglan Liu, Zhe Zhang, Masashige Bando, Takehiko Itoh, Matthew A Deardorff, Dinah Clark, Maninder Kaur, Stephany Tandy, Tatsuro Kondoh, Eric Rappaport, Nancy B Spinner, Hugo Vega, Laird G Jackson, Katsuhiko Shirahige, Ian D Krantz
Publikováno v:
PLoS Biology, Vol 7, Iss 5, p e1000119 (2009)
Cohesin regulates sister chromatid cohesion during the mitotic cell cycle with Nipped-B-Like (NIPBL) facilitating its loading and unloading. In addition to this canonical role, cohesin has also been demonstrated to play a critical role in regulation
Externí odkaz:
https://doaj.org/article/07391626c2d540a2bf2e7dfb3880f66c
Autor:
Koh-ichiro Yoshiura, Mutsuko Miyazaki, Kanako Morifuji, Kenjiro Kosaki, Tadashi Matsumoto, Satoshi Watanabe, Michiko Doi, Hiroyuki Moriuchi, Tatsuro Kondoh, Hisato Suzuki, Hiroyuki Mishima
Publikováno v:
Journal of human genetics. 64(8)
An increasing number of genetic syndromes present a challenge to clinical geneticists. A deep learning-based diagnosis assistance system, Face2Gene, utilizes the aggregation of "gestalt," comprising data summarizing features of patients' facial image
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0832318d6498e199f469c332a204626
https://pubmed.ncbi.nlm.nih.gov/31551534
https://pubmed.ncbi.nlm.nih.gov/31551534
Autor:
Nobuhiko Okamoto, Tadashi Matsumoto, Yuri Dowa, Yasutsugu Chinen, Masafumi Fukuda, Kenji Shimizu, Katsuya Tashiro, Seiji Mizuno, Kyoko Minagawa, Yoko Hiraki, Yoshihiro Toda, Osamu Shimokawa, Toshiyuki Yamamoto, Hirofumi Ohashi, Satoshi Watanabe, Seijiro Aso, Koichi Shichijo, Natsuko Shiomi, Kazunori Minatozaki, Tatsuro Kondoh, Hiroyuki Moriuchi, Keiko Shimojima, Rika Kosaki, Koh-ichiro Yoshiura
Publikováno v:
American Journal of Medical Genetics Part A. 170:908-917
Partial 1q trisomy syndrome is a rare disorder. Because unbalanced chromosomal translocations often occur with 1q trisomy, it is difficult to determine whether patient symptoms are related to 1q trisomy or other chromosomal abnormalities. The present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c98ccd41c82227ca49079a5e29ad036f
https://doi.org/10.1002/ajmg.a.37496
https://doi.org/10.1002/ajmg.a.37496
Autor:
Koh-ichiro Yoshiura, Ryuta Maekawa, Chisei Satoh, Haruo Takahashi, Mutsuko Miyazaki, Tatsuro Kondoh, Hiroyuki Mishima, Akira Kinoshita, Michiko Doi, Masafumi Fukuda
Publikováno v:
Human Genome Variation
Mutations in KAT6A, encoding a member of the MYST family of histone acetyl-transferases, were recently reported in patients with a neurodevelopmental disorder (OMIM: #616268, autosomal dominant mental retardation-32). In this report, we describe thre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35446677d169d9c04d12beef401c1ef3
https://doi.org/10.1038/hgv.2017.45
https://doi.org/10.1038/hgv.2017.45
Autor:
Keiko Matsubara, Sumito Dateki, Kei Izumi, Hiroyuki Moriuchi, Akiko Nakatomi, Masayo Kagami, Maki Fukami, Tatsuro Kondoh, Satoshi Watanabe
Publikováno v:
Journal of human genetics. 62(10)
Silver?Russell syndrome (SRS) is a congenital developmental disorder characterized by intrauterine and postnatal growth failure, craniofacial features (including a triangular shaped face and broad forehead), relative macrocephaly, protruding forehead
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39ce783e0eb283ab592ba165f2885e34
https://pubmed.ncbi.nlm.nih.gov/28592837
https://pubmed.ncbi.nlm.nih.gov/28592837