R
Ryuichi Tsukino
Publications - 4
Citations - 470
Ryuichi Tsukino is an academic researcher. The author has contributed to research in topics: Restriction fragment length polymorphism & Cytogenetics. The author has an hindex of 3, co-authored 4 publications receiving 449 citations.
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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
Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients.
Jun-Ichi Hamabe,Yoshimitsu Fukushima,Naoki Harada,Kyohko Abe,Nobutake Matsuo,Toshiro Nagai,Akira Yoshioka,Hidefumi Tonoki,Ryuichi Tsukino,Norio Niikawa +9 more
TL;DR: A new model is proposed to explain the occurrence of Prader-Willi syndrome with a variety of chromosome abnormalities, including partial monosomy, disomy, trisomy, and/or tetrasomy for 15q11.2.
Journal ArticleDOI
Successful Arthroscopic Treatment of Pigmented Villonodular Synovitis of the Knee in a Patient with Congenital Deficiency of Plasminogen Activator Inhibitor-1 and Recurrent Haemarthrosis
Hideto Matsui,Yukihiro Takahashi,Takeshi Matsunaga,Taeko Tanaka-Horie,Hideki Minowa,Mitsuhiko Sugimoto,Ryuichi Tsukino,Yoshio Mii,John C. Giddings,Akira Yoshioka +9 more
TL;DR: The arthroscopic treatment of pigmented villonodular synovitis (PVNS) in a 13-year-old Japanese boy with congenital partial deficiency of plasminogen activator inhibitor-1 (PAI-1) has been well controlled by oral administration of tranexamic acid on demand.