Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Shinji Saitoh"'
Autor:
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J.Cullen, Shinji Saitoh, Kohji Kato
Publikováno v:
Journal of Medical Genetics. 60:359-367
PurposeThe Retriever subunitVPS35Lis the third responsible gene for Ritscher-Schinzel syndrome (RSS) afterWASHC5andCCDC22. To date, only one pair of siblings have been reported and their condition was significantly more severe than typical RSS. This
Autor:
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Huber, Céline, Antón-Plágaro, Carlos, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Simon, Marleen, van Binsbergen, Ellen, van Jaarsveld, Richard H., Naomichi Matsumoto, Cormier-Daire, Valerie, Cullen, Peter J., Shinji Saitoh, Kohji Kato
Publikováno v:
Journal of Medical Genetics; Apr2023, Vol. 60 Issue 4, p359-367, 14p
Autor:
Yohane Miyata, Yonehiro Kanemura, Yuri Uchiyama, Fumihito Nozaki, Fumikatsu Nohara, Satomi Mitsuhashi, Satoshi Hada, Akihito Takeuchi, Fumihiko Ishida, Fumitaka Yoshioka, Hiroshi Terashima, Jiu Okuno-Yuguchi, Hirotomo Saitsu, Tadayuki Kumagai, Hidetoshi Taniguchi, Hiroshi Doi, Atsushi Takata, Atsuko Harada, Shinji Saitoh, Hitoshi Osaka, Eri Imagawa, Yusuke Mitani, Ayako Hattori, Yasuji Kitabatake, Koichi Tanda, Jun-ichi Takanashi, Atsushi Fujita, Hiroshi Arai, Ichiro Kuki, Makoto Kinoshita, Chikako Ogawa, Toshiyuki Itai, Yoshinori Tsurusaki, Yoshihiko Saito, Noriko Togashi, Noriko Miyake, Mazumi Miura, Hiroyuki Higashiyama, Masayasu Ohta, Yoshiichi Abe, Tetsuhiro Fukuyama, Yusuke Yachi, Tomoko Tandou, Etsuko Miyagi, Satoko Kumada, Shoko Shimokawa, Naomichi Matsumoto, Yuko Takei, Keiko Hirano, Satori Hirai, Keiichi Ozono, Yukihiro Kitai, Yuichi Takami, Mitsuo Motobayashi, Ryoko Honda, Masafumi Morimoto, Takaaki Nakano, Yuki Maki, Satoko Miyatake, Akihiko Ishiyama, Tatsuya Fukasawa, Mitsuhiro Kato, Yoshiteru Azuma, Robert Smigiel, Yushi Noguchi, Tsuyoshi Omi, Kohei Hamanaka, Naoki Ando, Masataka Taguri, Takeshi Mizuguchi, Chizuru Seiwa, Mitsuko Nakashima, Eriko Koshimizu, Shin Nabatame, Teruyuki Ishikura
Publikováno v:
Journal of Medical Genetics. 58:505-513
BackgroundVariants in the type IV collagen gene (COL4A1/2) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with COL4A1/2 variants remain unclear.MethodsWe examined COL4A
Autor:
Mitsuhiro Kato, Koh-ichi Nagata, Nobuhiko Okamoto, Yoko Narumi-Kishimoto, Yonehiro Kanemura, Hiroshi Ozawa, Hidenori Ito, Kohji Kato, Ikumi Hori, Kenjiro Kosaki, Shinji Saitoh, Yoshiyuki Takahashi, Tatsuhiko Tsunoda, Nanako Hamada, Yutaka Negishi, Ayako Hattori, Fuyuki Miya
Publikováno v:
Journal of Medical Genetics. 56:388-395
BackgroundIn this study, we aimed to identify the gene abnormality responsible for pathogenicity in an individual with an undiagnosed neurodevelopmental disorder with megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disabil
Autor:
Toshiyuki, Itai, Satoko, Miyatake, Masataka, Taguri, Fumihito, Nozaki, Masayasu, Ohta, Hitoshi, Osaka, Masafumi, Morimoto, Tomoko, Tandou, Fumikatsu, Nohara, Yuichi, Takami, Fumitaka, Yoshioka, Shoko, Shimokawa, Jiu, Okuno-Yuguchi, Mitsuo, Motobayashi, Yuko, Takei, Tetsuhiro, Fukuyama, Satoko, Kumada, Yohane, Miyata, Chikako, Ogawa, Yuki, Maki, Noriko, Togashi, Teruyuki, Ishikura, Makoto, Kinoshita, Yusuke, Mitani, Yonehiro, Kanemura, Tsuyoshi, Omi, Naoki, Ando, Ayako, Hattori, Shinji, Saitoh, Yukihiro, Kitai, Satori, Hirai, Hiroshi, Arai, Fumihiko, Ishida, Hidetoshi, Taniguchi, Yasuji, Kitabatake, Keiichi, Ozono, Shin, Nabatame, Robert, Smigiel, Mitsuhiro, Kato, Koichi, Tanda, Yoshihiko, Saito, Akihiko, Ishiyama, Yushi, Noguchi, Mazumi, Miura, Takaaki, Nakano, Keiko, Hirano, Ryoko, Honda, Ichiro, Kuki, Jun-Ichi, Takanashi, Akihito, Takeuchi, Tatsuya, Fukasawa, Chizuru, Seiwa, Atsuko, Harada, Yusuke, Yachi, Hiroyuki, Higashiyama, Hiroshi, Terashima, Tadayuki, Kumagai, Satoshi, Hada, Yoshiichi, Abe, Etsuko, Miyagi, Yuri, Uchiyama, Atsushi, Fujita, Eri, Imagawa, Yoshiteru, Azuma, Kohei, Hamanaka, Eriko, Koshimizu, Satomi, Mitsuhashi, Takeshi, Mizuguchi, Atsushi, Takata, Noriko, Miyake, Yoshinori, Tsurusaki, Hiroshi, Doi, Mitsuko, Nakashima, Hirotomo, Saitsu, Naomichi, Matsumoto
Publikováno v:
Journal of medical genetics. 58(8)
Variants in the type IV collagen gene (We examinedPathogenicPrenatal observation of ventriculomegaly with comorbid foetal growth restriction should prompt a thorough ultrasound examination and
Autor:
Shinji Saitoh, Ikumi Hori, Keiko Wakui, Rie Kawamura, Junko Tomikawa, Kenji Kurosawa, Ken Higashimoto, Kei Ohashi, Yutaka Negishi, Kazuhiko Nakabayashi, Kenichiro Hata, Daisuke Ieda, Hidetaka Watanabe, Yoshitsugu Sugio, Ayako Hattori, Hidenobu Soejima
Publikováno v:
Journal of Medical Genetics. 54:836-842
Background Heterozygous mutations in CTCF have been reported in patients with distinct clinical features including intellectual disability. However, the precise pathomechanism underlying the phenotype remains to be uncovered, partly because of the di
Autor:
Kohji Kato, Yasuyoshi Oka, Hideki Muramatsu, Vasilev, Filipp F., Takanobu Otomo, Hisashi Oishi, Yoshihiko Kawano, Hiroyuki Kidokoro, Yuka Nakazawa, Tomoo Ogi, Yoshiyuki Takahashi, Shinji Saitoh
Publikováno v:
Journal of Medical Genetics; Apr2020, Vol. 57 Issue 4, p245-253, 9p
Autor:
Masakazu Nakamura, Hiroaki Yaguchi, Ichiro Yabe, Kana Hosoki, Hidenao Sasaki, Akira Sudo, Shinji Saitoh
Publikováno v:
Journal of Medical Genetics. 47:659-664
Background : Myoclonic epilepsy with ragged-red fibres (MERRF) and mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are established phenotypes of mitochondrial encephalomyopathy. The m.8356T>C transition in the mitochond
Autor:
Kohji Kato, Fuyuki Miya, Nanako Hamada, Yutaka Negishi, Yoko Narumi-Kishimoto, Hiroshi Ozawa, Hidenori Ito, Ikumi Hori, Ayako Hattori, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Yonehiro Kanemura, Kenjiro Kosaki, Yoshiyuki Takahashi, Koh-ichi Nagata, Shinji Saitoh
Publikováno v:
Journal of Medical Genetics; Jun2019, Vol. 56 Issue 6, p388-395, 8p
Autor:
Ikumi Hori, Rie Kawamura, Kazuhiko Nakabayashi, Hidetaka Watanabe, Ken Higashimoto, Junko Tomikawa, Daisuke ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Yoshitsugu Sugio, Keiko Wakui, Kenichiro Hata, Hidenobu Soejima, Kenji Kurosawa, Shinji Saitoh
Publikováno v:
Journal of Medical Genetics; Dec2017, Vol. 54 Issue 12, p836-842, 7p