Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Chihiro Abe-Hatano"'
Autor:
Mamiko Yamada, Yuichi Shiraishi, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Chihiro Abe‐Hatano, Kenji Kurosawa, Kenjiro Kosaki
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background A weakness of exome analysis lies in inability to characterize aberrant splicing other than those involving consensus donor‐acceptor sequence. To overcome this limitation, we developed a novel analytic method SAVNet that combine
Externí odkaz:
https://doaj.org/article/bd4d4510179c46b4bd4982041f9c61fb
Autor:
Kazuhiko Hashimoto, Shimpei Baba, Eiji Nakagawa, Noriko Sumitomo, Eri Takeshita, Yuko Shimizu-Motohashi, Akihiko Ishiyama, Takashi Saito, Chihiro Abe-Hatano, Ken Inoue, Aritoshi Iida, Masayuki Sasaki, Yu-ichi Goto
Publikováno v:
Brain and Development. 44:551-557
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::18fd6a846ebf7282fbb40ad3c68d7838
https://doi.org/10.1016/j.braindev.2022.04.011
https://doi.org/10.1016/j.braindev.2022.04.011
Autor:
Yumi Enomoto, Takayuki Yokoi, Yoshinori Tsurusaki, Hiroaki Murakami, Makiko Tominaga, Mari Minatogawa, Chihiro Abe‐Hatano, Yukiko Kuroda, Ikuko Ohashi, Kazumi Ida, Shizuka Shiiya, Tatsuro Kumaki, Takuya Naruto, Jun Mitsui, Noriaki Harada, Yasuhiro Kido, Kenji Kurosawa
Publikováno v:
Clinical Genetics. 101:335-345
Rubinstein-Taybi syndrome (RSTS) is characterized by dysmorphic facial features, broad thumbs, and intellectual disability. CREB-binding protein (CREBBP) or E1A-binding protein P300 (EP300) are causative genes. To elucidate the underlying genetic and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6707e72c9497128ebbb8bc8b924be4e
https://doi.org/10.1111/cge.14103
https://doi.org/10.1111/cge.14103
Publikováno v:
Molecular Syndromology. 13:517-521
Introduction: Calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations cause microcephaly with pontine and cerebellar hypoplasia (MICPCH) and X-linked intellectual disability. Congenital heart disease (CHD) is a rare complication repo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::91f8bd1623b6adf8c1110136c027355d
https://doi.org/10.1159/000524375
https://doi.org/10.1159/000524375
Autor:
Noriaki Harada, Keisuke Enomoto, Mitsuo Masuno, Hiroaki Murakami, Naoto Nishimura, Yukiko Kuroda, Kiyoko Sameshima, Tadashi Kaname, Takuya Naruto, Mari Minatogawa, Yoshinori Tsurusaki, Chihiro Abe-Hatano, Shinsuke Ninomiya, Yumi Enomoto, Hiroshi Yoshihashi, Tatsuro Kumaki, Hiroshi Suzumura, Hiroshi Kawame, Makiko Tominaga, Yoshikazu Kuroki, Masahisa Kobayashi, Kenjiro Kosaki, Kenji Kurosawa, Fuminori Iwasaki, Aki Ishikawa, Akane Kondo, Noritaka Furuya, Satoshi Ishikiriyama, Yu Yamaguchi, Ikuko Ohashi, Toshiaki Tanaka, Takayuki Yokoi
Publikováno v:
American Journal of Medical Genetics Part A. 182:2333-2344
Kabuki syndrome is characterized by a variable degree of intellectual disability, characteristic facial features, and complications in various organs. Many variants have been identified in two causative genes, that is, lysine methyltransferase 2D (KM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e33ca8b80cc9236dccc1f33e30c24624
https://doi.org/10.1002/ajmg.a.61793
https://doi.org/10.1002/ajmg.a.61793
Autor:
Hiroya Nishida, Mitsuhiro Kato, Yukihide Momozawa, Yu-ichi Goto, Michiaki Kubo, Sayaka Ohta, Aritoshi Iida, Kan Takahashi, Jun Natsume, Kazuyuki Nakamura, Ken Inoue, Chikashi Terao, Naomichi Matsumoto, Yoichiro Kamatani, Kyoko Hoshino, Yasuo Hachiya, Eiji Nakagawa, Rie Miyata, Shunichi Kosugi, Eri Takeshita, Akihiko Ishiyama, Yoshiyuki Takahashi, Chihiro Abe-Hatano, Masayuki Sasaki, Haruko Sakamoto, Keiko Ishikawa, Mariko Okubo, Chie Murakami, Masaya Kubota
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2021, 185 (5), pp.1468-1480. ⟨10.1002/ajmg.a.62138⟩
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics Part A, 2021, 185 (5), pp.1468-1480. ⟨10.1002/ajmg.a.62138⟩
American Journal of Medical Genetics. Part a
Intellectual disability (ID) is characterized by significant limitations in both intellectual functioning and adaptive behaviors, originating before the age of 18 years. However, the genetic etiologies of ID are still incompletely elucidated due to t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cff5fca248e02ff7020eb6a509eee5a6
https://hal.science/hal-03842199
https://hal.science/hal-03842199
Autor:
Yuichi Shiraishi, Kenjiro Kosaki, Hisato Suzuki, Kenji Kurosawa, Mamiko Yamada, Tomoko Uehara, Chihiro Abe-Hatano, Toshiki Takenouchi
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Background A weakness of exome analysis lies in inability to characterize aberrant splicing other than those involving consensus donor‐acceptor sequence. To overcome this limitation, we developed a novel analytic method SAVNet that combines transcr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9db3ac4a1388ba3cbde80716be374f6
http://europepmc.org/articles/PMC7503209
http://europepmc.org/articles/PMC7503209
Autor:
Hiroaki, Murakami, Yoshinori, Tsurusaki, Keisuke, Enomoto, Yukiko, Kuroda, Takayuki, Yokoi, Noritaka, Furuya, Hiroshi, Yoshihashi, Mari, Minatogawa, Chihiro, Abe-Hatano, Ikuko, Ohashi, Naoto, Nishimura, Tatsuro, Kumaki, Yumi, Enomoto, Takuya, Naruto, Fuminori, Iwasaki, Noriaki, Harada, Aki, Ishikawa, Hiroshi, Kawame, Kiyoko, Sameshima, Yu, Yamaguchi, Masahisa, Kobayashi, Makiko, Tominaga, Satoshi, Ishikiriyama, Toshiaki, Tanaka, Hiroshi, Suzumura, Shinsuke, Ninomiya, Akane, Kondo, Tadashi, Kaname, Kenjiro, Kosaki, Mitsuo, Masuno, Yoshikazu, Kuroki, Kenji, Kurosawa
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(10)
Kabuki syndrome is characterized by a variable degree of intellectual disability, characteristic facial features, and complications in various organs. Many variants have been identified in two causative genes, that is, lysine methyltransferase 2D (KM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6a9a55c0510627228800888384a7db35
https://pubmed.ncbi.nlm.nih.gov/32803813
https://pubmed.ncbi.nlm.nih.gov/32803813
Autor:
Yuki Maki, Naoko Kurahashi, Jun Natsume, Yusuke Aoki, Hiroko Taniai, Hirokazu Kurahashi, Eriko Koshimizu, Noriko Miyake, Seiji Mizuno, Naomichi Matsumoto, Keitaro Yamada, Koichi Maruyama, Miho Nakamura, Chihiro Abe-Hatano
Publikováno v:
Brain and Development. 39:672-677
Background The characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations (KABUK1) have not yet been well documented. This is the first review to explore this. Materials & methods We enrolled 14 patients with KABUK1, whose medi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ab03740509b059f083288cc583c56b1
https://doi.org/10.1016/j.braindev.2017.03.025
https://doi.org/10.1016/j.braindev.2017.03.025
Autor:
Yuichi Goto, Ken Inoue, Eiji Nakagawa, Aritoshi Iida, Chihiro Abe-Hatano, Masayuki Sasaki, Eri Takeshita
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 6, Iss 1, Pp 1-4 (2019)
Human Genome Variation, Vol 6, Iss 1, Pp 1-4 (2019)
Rett syndrome (RTT) is an X-linked progressive and severe neurological disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MECP2). Among the 49 typical RTT patients examined, we identified 10 novel and eight known insertio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a85cf22fc6b6267a4444889e9a18d8a7
https://doi.org/10.1038/s41439-019-0078-2
https://doi.org/10.1038/s41439-019-0078-2