T
Tadashi Matsumoto
Researcher at Nagasaki University
Publications - 64
Citations - 1489
Tadashi Matsumoto is an academic researcher from Nagasaki University. The author has contributed to research in topics: Kabuki syndrome & Restriction fragment length polymorphism. The author has an hindex of 19, co-authored 64 publications receiving 1423 citations. Previous affiliations of Tadashi Matsumoto include RMIT University & Kumamoto University.
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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.
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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
Mark C. Hannibal,Kati J. Buckingham,Sarah B. Ng,Jeffrey E. Ming,Anita E. Beck,Anita E. Beck,Margaret J. Mcmillin,Heidi I. S. Gildersleeve,Abigail W. Bigham,Holly K. Tabor,Holly K. Tabor,Heather C Mefford,Heather C Mefford,Joseph Cook,Koh-ichiro Yoshiura,Tadashi Matsumoto,Naomichi Matsumoto,Noriko Miyake,Hidefumi Tonoki,Kenji Naritomi,Tadashi Kaname,Toshiro Nagai,Hirofumi Ohashi,Kenji Kurosawa,Jia Woei Hou,Tohru Ohta,Deshung Liang,Akira Sudo,Colleen A. Morris,Siddharth Banka,Graeme C.M. Black,Jill Clayton-Smith,Deborah A. Nickerson,Elaine H. Zackai,Tamim H. Shaikh,Dian Donnai,Norio Niikawa,Jay Shendure,Michael J. Bamshad,Michael J. Bamshad +39 more
TL;DR: In this paper, the authors reported on the screening of 110 families with Kabuki syndrome and found 81/110 (74%) mutations in the Trithorax-group histone methyltransferase, a protein important in the epigenetic control of active chromatin states.
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Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy.
Kiichi Arahata,Tadayuki Ishihara,Keiko Kamakura,Toshifumi Tsukahara,Shoichi Ishiura,Chikako Baba,Tadashi Matsumoto,Ikuya Nonaka,Hideo Sugita +8 more
TL;DR: It is concluded that symptomatic carriers of Duchenne's muscular dystrophy can be identified by a distinct mosaic pattern in the immunohistochemical staining of the surface membrane of skeletal-muscle specimens.
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47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region
TL;DR: A girl with a girls with a mos47,XX,+mar/46,XX karyotype associated with the features of Silver-Russell syndrome is described, which is most likely that the patient originated in a 46, XX,r(7) zygote, followed by duplication of the maternally derived whole chromosome 7 in an early mitosis, and subsequent loss of the paternallyderived ring chromosomes 7 in a subset of somatic cells.
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The effect of a traditional Chinese prescription for a case of lung carcinoma.
TL;DR: NYT has a positive effect on life expectancy for patients with malignancy and the diagnostic scoring system in yin-yang and xu-shi and prescription of Chinese herb may be available to gain control over a patient's health.