H
Hidefumi Tonoki
Researcher at Hokkaido University
Publications - 67
Citations - 2864
Hidefumi Tonoki is an academic researcher from Hokkaido University. The author has contributed to research in topics: Gene & Chromosomal inversion. The author has an hindex of 24, co-authored 66 publications receiving 2730 citations. Previous affiliations of Hidefumi Tonoki include Nagasaki University.
Papers
More filters
Journal ArticleDOI
Mutations in the TRKA /NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis
Yasuhiro Indo,Motoko Tsuruta,Yumi Hayashida,Mohammad Azharul Karim,Kohji Ohta,Tomoyasu Kawano,Hiroshi Mitsubuchi,Hidefumi Tonoki,Yutaka Awaya,Ichiro Matsuda +9 more
TL;DR: It is strongly suggested that defects in TRKA cause CIPA and that the NGF–TRKA system has a crucial role in the development and function of the nociceptive reception as well as establishment of thermoregulation via sweating in humans.
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
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.
Journal ArticleDOI
A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.
Takeo Kubota,Shigeaki Nonoyama,Hidefumi Tonoki,Mitsuo Masuno,Kiyoshi Imaizumi,Makiko Kojima,Keiko Wakui,Mitsunobu Shimadzu,Yoshimitsu Fukushima +8 more
TL;DR: It is concluded that M-PCR provides an accurate assay for X-inactivation and that it can be performed on various DNA samples unsuitable for restriction digestion.
Journal ArticleDOI
MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Noriko Miyake,Eriko Koshimizu,Nobuhiko Okamoto,Seiji Mizuno,Tsutomu Ogata,Toshiro Nagai,Tomoki Kosho,Hirofumi Ohashi,Mitsuhiro Kato,Goro Sasaki,Hiroyo Mabe,Yoriko Watanabe,Makoto Yoshino,Toyojiro Matsuishi,Jun-ichi Takanashi,Vorasuk Shotelersuk,Mustafa Tekin,Nobuhiko Ochi,Masaya Kubota,Naoko Ito,Kenji Ihara,Toshiro Hara,Hidefumi Tonoki,Tohru Ohta,Kayoko Saito,Mari Matsuo,Mari Urano,Takashi Enokizono,Astushi Sato,Hiroyuki Tanaka,Atsushi Ogawa,Takako Fujita,Yoko Hiraki,Sachiko Kitanaka,Yoichi Matsubara,Toshio Makita,Masataka Taguri,Mitsuko Nakashima,Yoshinori Tsurusaki,Hirotomo Saitsu,Ko Ichiro Yoshiura,Naomichi Matsumoto,Norio Niikawa +42 more
TL;DR: High arched eyebrows, short fifth finger, and hypotonia in infancy were more frequent in the MLL2 mutation group than in the KDM6A mutation group, and short stature and postnatal growth retardation were observed in all individuals with KDM 6A mutations, but in only half of the group with M LL2 mutations.