Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Mayuri Okami"'
Autor:
Takashi Ishino, Daisuke Kikuchi, Toshinori Kubota, Noriko Ogasawara, Misako Hyogo, Chiharu Kihara, Tomoko Esaki, Satoshi Iwasaki, Jun Nakayama, Masahiro Takahashi, Yumiko Kobayashi, Yoh ichiro Iwasa, Masako Nakai, Yuika Sakurai, Mayuri Okami, Hidehiko Takeda, Sakiko Furutate, Nana Tsuchihashi, Yukihide Maeda, Marina Kobayashi, Hiroshi Yoshihashi, Tomoko Shintani, Tadao Yoshida, Tetsuo Ikezono, Hidekane Yoishimura, Shin-ichi Usami, Han Matsuda, Yasuhiro Arai, Yuko Kataoka, Kozo Kumakawa, Taisuke Kobayashi, Risa Tona, Kyoko Nagai, Shinya Morita, Akiko Sugaya, Yohei Honkura, Remi Motegi, Shuji Izumi, Hiroshi Yamazaki, Yasushi Naito, Shin-ya Nishio, Yuzuru Ninoyu, Hideaki Sakata, Yukihiko Kanda, Shinichiro Oka, Mayumi Suematsu
Publikováno v:
Human Genetics. 141:865-875
Mutations in the OTOF gene are a common cause of hereditary hearing loss and the main cause of auditory neuropathy spectrum disorder (ANSD). Although it is reported that most of the patients with OTOF mutations have stable, congenital or prelingual o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a301f97d03cfb9bfd9bb56a8135cd1a3
https://doi.org/10.1007/s00439-021-02351-7
https://doi.org/10.1007/s00439-021-02351-7
Autor:
Masahiro Takahashi, Jun Nakayama, Yuika Sakurai, Tetsuo Ikezono, Mayuri Okami, Mayumi Suematsu, Shin-ichi Usami, Sakiko Furutate, Masako Nakai, Hiroshi Yoshihashi, Yoh-ichiro Iwasa, Shinichiro Oka, Misako Hyogo, Tomoko Shintani, Hideaki Sakata, Noriko Ogasawara, Yuko Kataoka, Daisuke Kikuchi, Marina Kobayashi, Yumiko Kobayashi, Yohei Honkura, Shuji Izumi, Toshinori Kubota, Hidekane Yoshimura, Kyoko Nagai, Yuzuru Ninoyu, Chiharu Kihara, Risa Tona, Satoshi Iwasaki, Hiroshi Yamazaki, Yasushi Naito, Yasuhiro Arai, Shin-ya Nishio, Yukihiko Kanda, Taisuke Kobayashi, Akiko Sugaya, Kozo Kumakawa, Hidehiko Takeda, Yukihide Maeda, Tadao Yoshida, Han Matsuda, Shinya Morita, Takashi Ishino, Tomoko Esaki, Remi Motegi, Nana Tsuchihashi
Publikováno v:
Human Genetics. 141:993-995
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a101939eb4a7e8b1628c29b8c2294a01
https://doi.org/10.1007/s00439-021-02392-y
https://doi.org/10.1007/s00439-021-02392-y
Autor:
Eriko Ochiai, Motoki Osawa, Shinichi Matsuda, Kazumi Takahashi, Hiroyuki Mochizuki, Yuko Ohnuki, Kenji Okami, Masahiro Iida, Shiro Yamada, Mayuri Okami
Publikováno v:
Human Genome Variation, Vol 7, Iss 1, Pp 1-4 (2020)
Human Genome Variation
Human Genome Variation
We encountered a boy with Jervell and Lange-Nielsen syndrome (JLNS) with compound heterozygous KCNQ1 mutations, maternal Trp248Phe and a novel paternal mutation, Leu347Arg. His father showed long QT (LQT) and arrhythmia. His mother was asymptomatic w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b440697af40c61847772ab61ac9da7ea
https://doi.org/10.1038/s41439-020-00121-x
https://doi.org/10.1038/s41439-020-00121-x
Autor:
Shinichiro Oka, Shin-ichi Usami, Chie Oshikawa, Mayuri Okami, Shin Ichi Goto, Satoshi Iwasaki, Naoko Sakuma, Yohei Honkura, Karuna Maekawa, Yumiko Kobayashi, Masayuki Shirakura, Hajime Sano, Yukihiko Kanda, Satoko Abe, Shin-ya Nishio, Natsumi Uehara
Publikováno v:
Genes, Vol 10, Iss 10, p 735 (2019)
Genes
Volume 10
Issue 10
Genes
Volume 10
Issue 10
Variants of the LOXHD1 gene, which are expressed in hair cells of the cochlea and vestibule, have been reported to cause a progressive form of autosomal recessive non-syndromic hereditary hearing loss, DFNB77. In this study, genetic screening was con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f44594faf1007e168b5279391e89171f
https://www.mdpi.com/2073-4425/10/10/735
https://www.mdpi.com/2073-4425/10/10/735
Autor:
Mayuri Okami, Takahide Hamano, Miharu Yabe, Masahiro Takahashi, Kenji Okami, Toshio Miyawaki, Masahiro Iida, Hirokazu Kanegane, Motoki Sekine
Publikováno v:
Practica Oto-Rhino-Laryngologica. 99:95-100
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dfb830039022481a1c5d66190d20cadc
https://doi.org/10.5631/jibirin.99.95
https://doi.org/10.5631/jibirin.99.95
Publikováno v:
AUDIOLOGY JAPAN. 46:249-255
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::42de39857a15435b92239444a8ac71ae
https://doi.org/10.4295/audiology.46.249
https://doi.org/10.4295/audiology.46.249
Publikováno v:
Equilibrium Research. 53:84-87
Equilibrium and audiological examinations were conducted in 73 patients with a diagnosis of vestibular neuronitis during 1972 and 1993. In 23 patients central nervous system disorders were suspected from the results of tests of positional and positio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e960f0aa609c37be76a14f1de1c4e6d3
https://doi.org/10.3757/jser.53.suppl-10_84
https://doi.org/10.3757/jser.53.suppl-10_84
Publikováno v:
Acta Oto-Laryngologica. 113:49-52
Seventeen cases of vestibular neuronitis in children, including 11 cases from the questionnaires of an epidemiological survey in Japan and 6 patients in our clinic, were examined. Sex and age distribution was 11 males and 6 females, ranging in age fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d53f073884245bcc68c6cca86add5c4d
https://doi.org/10.3109/00016489309128071
https://doi.org/10.3109/00016489309128071
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 35:286-287
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2cc7348bac9ec089dcbf2d1d8bb842d
https://doi.org/10.1016/0165-5876(96)83708-6
https://doi.org/10.1016/0165-5876(96)83708-6
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 37:293
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d945ffd1448b674df9a9d3895a300a38
https://doi.org/10.1016/0165-5876(96)87774-3
https://doi.org/10.1016/0165-5876(96)87774-3