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髙野亨子  タカノ キョウコ

教員組織学術研究院(医学系(附属病院))電話番号
教育組織医学部附属病院 遺伝子医療研究センターFAX番号
職名講師メールアドレス
住所〒390-8621 長野県松本市旭3-1-1ホームページURL

プロフィール

研究分野
人類遺伝学
小児科学
小児神経学
所属学会
所属学会
日本小児科学会
日本小児神経学会
日本人類遺伝学会
学歴
取得学位
博士(医学) , 北海道大学

研究活動業績

研究業績(著書・
発表論文等)
著書
鰓弓症候群
診断と治療社 , こどもの病気遺伝について聞かれたら , :177-178 2015(Mar. 02)
Author:高野亨子、福嶋義光


論文
PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,179(6):948-957 2019(Jun.)
Author:Yamaguchi, Tomomi; Takano, Kyoko; Inaba, Yuji; Morikawa, Manami; Motobayashi, Mitsuo; Kawamura, Rie; Wakui, Keiko; Nishi, Eriko; Hirabayashi, Shin-ichi; Fukushima, Yoshimitsu; Kato, Hiroyuki; Takahashi, Jun; Kosho, Tomoki;


Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome
PEDIATRICS INTERNATIONAL,60(4):378-380 2018(Apr.)
Author:Natsume, Takenori; Takano, Kyoko; Motobayashi, Mitsuo; Kosho, Tomoki;


Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review
BRAIN & DEVELOPMENT,39(9):804-807 2017(Oct.)
Author:Morikawa, Manami; Takano, Kyoko; Motobayashi, Mitsuo; Shiba, Naoko; Kosho, Tomoki; Nakazawa, Yozo; Inaba, Yuji;


Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration
EUROPEAN JOURNAL OF MEDICAL GENETICS,60(10):521-526 2017(Oct.)
Author:Takano, Kyoko; Goto, Kazuya; Motobayashi, Mitsuo; Wakui, Keiko; Kawamura, Rie; Yamaguchi, Tomomi; Fukushima, Yoshimitsu; Kosho, Tomoki;


WDR45 mutations in three male patients with West syndrome
JOURNAL OF HUMAN GENETICS,61(7):653-661 2016(Jul.)
Author:Nakashima, Mitsuko; Takano, Kyoko; Tsuyusaki, Yu; Yoshitomi, Shinsaku; Shimono, Masayuki; Aoki, Yoshihiro; Kato, Mitsuhiro; Aida, Noriko; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Osaka, Hitoshi; Saitsu, Hirotomo; Matsumoto, Naomichi;


Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,170(2):322-328 2016(Feb.)
Author:Takano, Kyoko; Shiba, Naoko; Wakui, Keiko; Yamaguchi, Tomomi; Aida, Noriko; Inaba, Yuji; Fukushima, Yoshimitsu; Kosho, Tomoki;


A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy
BRAIN & DEVELOPMENT,37(6):638-642 2015(Jun.)
Author:Takano, Kyoko; Tsuyusaki, Yu; Sato, Mutsumi; Takagi, Mariko; Anzai, Rie; Okuda, Mitsuko; Iai, Mizue; Yamashita, Sumimasa; Okabe, Tetsuhiko; Aida, Noriko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Matsumoto, Naomichi; Osaka, Hitoshi;


An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.
Hum Mol Genet.,21(20):4497-507 2012(Oct.)
Author:Takano K, Liu D, Tarpey P, Gallant E, et al.


Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype.
Clin Genet.,80(6):600-1 2011(Dec.)
Author:Takano K, Tan WH, Irons MB, Jones JR, et al.


A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics.
Proteins,79(8):2444-54 2011(Aug.)
Author:Witham S, Takano K (equal contribution), Schwartz C, Alexov E.


Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. 2010 Sep;78(3):282-8.
Clin Genet.,78(3):282-8 2010(Sep.)
Author:Takano K, Lyons M, Moyes C, Jones J, et al.