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TAKANO Kyoko

Academic OrganizationAcademic Assembly School of Medicine and Health Sciences Institute of MedicineTEL
Education and Research OrganizationUniversity Hospital Center for Medical GeneticsFAX
PositionSenior Assistant ProfessorMail Address
Address3-1-1, Asahi, Matsumoto City 390-8621Web site

Profile

Research Field
Human genetics
Pediatrics
Pediatric neurology
Academic Societies
Academic Societies
Japan pediatric society
Japanese society of child neurology
Japanese society of human genetics

Research

Books, Articles, etc.
Books
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


Articles
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.