S
Satoshi Ogura
Publications - 2
Citations - 433
Satoshi Ogura is an academic researcher. The author has contributed to research in topics: Kabuki syndrome & Brachydactyly. The author has an hindex of 2, co-authored 2 publications receiving 408 citations.
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Journal ArticleDOI
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.
Norio Niikawa,Yoshikazu Kuroki,Tadashi Kajii,Nobuo Matsuura,Satoshi Ishikiriyama,Hidefumi Tonoki,Nobuyoshi Ishikawa,Yutaka Yamada,Masafumi Fujita,Hidehiko Umemoto,Yoshihiko Iwama,Ikuko Kondoh,Yoshimitsu Fukushima,Yasushi Nako,Ichiro Matsui,Tatsuhiko Urakami,Sekoiya Aritaki,Michiko Hara,Yasuyuki Suzuki,Hiroyuki Chyo,Yoshitsugu Sugio,Tomoko Hasegawa,Tsutomu Yamanaka,Ryuichi Tsukino,Akira Yoshida,Naoki Nomoto,Satomi Kawahito,Ryozo Aihara,Shigeki Toyota,Atsushi Ieshima,Hiromu Funaki,Kazuyuki Ishitobi,Satoshi Ogura,Toshiaki Furumae,Makoto Yoshino,Yoshiro Tsuji,Tatsuro Kondoh,Tadashi Matsumoto,Kyohko Abe,Naoki Harada,Teruhisa Miike,Shozo Ohdo,Kenji Naritomi,A. K. Abushwereb,O. H. Braun,Erich Schmid,John M. Opitz,James F. Reynolds +47 more
TL;DR: These 62 patients with the Kabuki make-up syndrome were collected in a collaborative study among 33 institutions and analyzed clinically, cytogenetically, and epidemiologically to delineate the phenotypic spectrum and to learn about its cause.
Journal ArticleDOI
Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).
Toshinori Hori,Shunji Tomatsu,Yoshihiro Nakashima,Atsushi Uchiyama,Seiji Fukuda,Kazuko Sukegawa,Nobuyuki Shimozawa,Yasuyuki Suzuki,Naomi Kondo,Terumi Horiuchi,Satoshi Ogura,Tadao Orii +11 more
TL;DR: This is the first documentation of a common double deletion a gene that is not a member of a gene cluster, and this deletion resulted from an Alu-Alu recombination.