髙野 亨子 (タカノ キョウコ)
学術研究院（医学系（附属病院））
医学部附属病院 遺伝子医療研究センター
講師
研究者情報
研究活動情報
論文
- 知的障害の遺伝学的診断
髙野 亨子
信州医学雑誌, 68(4), 183-187, 2020年08月10日
- PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review
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;
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 179(6), 948-957, 2019年06月
- Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome
Natsume, Takenori; Takano, Kyoko; Motobayashi, Mitsuo; Kosho, Tomoki;
PEDIATRICS INTERNATIONAL, 60(4), 378-380, 2018年04月 - Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration
Takano, Kyoko; Goto, Kazuya; Motobayashi, Mitsuo; Wakui, Keiko; Kawamura, Rie; Yamaguchi, Tomomi; Fukushima, Yoshimitsu; Kosho, Tomoki;
EUROPEAN JOURNAL OF MEDICAL GENETICS, 60(10), 521-526, 2017年10月 - Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review
Morikawa, Manami; Takano, Kyoko; Motobayashi, Mitsuo; Shiba, Naoko; Kosho, Tomoki; Nakazawa, Yozo; Inaba, Yuji;
BRAIN & DEVELOPMENT, 39(9), 804-807, 2017年10月 - WDR45 mutations in three male patients with West syndrome
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;
JOURNAL OF HUMAN GENETICS, 61(7), 653-661, 2016年07月 - 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
Takano, Kyoko; Shiba, Naoko; Wakui, Keiko; Yamaguchi, Tomomi; Aida, Noriko; Inaba, Yuji; Fukushima, Yoshimitsu; Kosho, Tomoki;
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 170(2), 322-328, 2016年02月 - A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy
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;
BRAIN & DEVELOPMENT, 37(6), 638-642, 2015年06月 - An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.
Takano K, Liu D, Tarpey P, Gallant E, et al.
Hum Mol Genet., 21(20), 4497-507, 2012年10月 - Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype.
Takano K, Tan WH, Irons MB, Jones JR, et al.
Clin Genet., 80(6), 600-1, 2011年12月 - A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics.
Witham S, Takano K (equal contribution), Schwartz C, Alexov E.
Proteins, 79(8), 2444-54, 2011年08月 - Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. 2010 Sep;78(3):282-8.
Takano K, Lyons M, Moyes C, Jones J, et al.
Clin Genet., 78(3), 282-8, 2010年09月
