Zobrazeno 1 - 8
of 8
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:
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:
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:
Naoko Oya, Atsuko Nakagawa, Naoto Shoji, Masayo Kojima, Takeshi Ebara, Sayaka Kato, Yasuyuki Yamada, Shinji Saitoh, Taro Matsuki, Yasuhiko Ozaki, Jun Ueyama, Taishi Miyachi, Mayumi Sugiura-Ogasawara, Tomoko Oguri, Toyonori Omori, Yuki Ito, Motohiro Tomizawa, Michihiro Kamijima, Sadao Suzuki, Hirotaka Sato
Publikováno v:
BMJ Open
PurposeEffects of fetal, perinatal and childhood environment on the health of children at birth and during later life have become a topic of concern. The Aichi regional sub-cohort of the Japan Environment and Children’s Study (JECS-A) is an ongoing
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:
Takahiro Sugiura, S Yoshida, Koichi Ito, Tatenobu Goto, Shinji Saitoh, Rika Nagasaki, Hiroko Ueda, N Sato, Takenori Kato
Publikováno v:
Archives of Disease in Childhood. 99:A466.2-A466
Background and aims Rates of traditional medical autopsy are low in Japan. In particular, obtaining consent for autopsy of children from parents is difficult. Although postmortem imaging of adults has been well studied, this is not the case in childr
Autor:
Haruo Mizuno, Shinji Saitoh, Takahiro Sugiura, Shogo Ito, Takeshi Endo, Koichi Ito, Y Ashikari
Publikováno v:
Archives of Disease in Childhood. 99:A445.2-A445
Background and aims Neonatal cholestasis is caused by either biliary atresia or intrahepatic cholestasis. Congenital combined pituitary hormone deficiency (CPHD) is a rare disease and a recognised cause of intrahepatic cholestasis. It is important to