Kyoko Takano
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Explore the profile of Kyoko Takano including associated specialties, affiliations and a list of published articles.
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52
Citations
543
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Recent Articles
1.
Kubota N, Takeda R, Kobayashi J, Hidaka E, Nishi E, Takano K, et al.
Mol Syndromol
. 2023 Oct;
14(5):394-404.
PMID: 37901861
Introduction: Chromosomal microarray (CMA) is a highly accurate and established method for detecting copy number variations (CNVs) in clinical genetic testing. CNVs are important etiological factors for disorders such as...
2.
Fukuyama T, Yabe M, Nishioka M, Natsume T, Hoshino Y, Kanaya K, et al.
Epilepsy Behav Rep
. 2023 Oct;
24:100628.
PMID: 37886219
To investigate the quality of epilepsy care in a region in Japan that lacked specialised care, we retrospectively evaluated patients who visited our newly established epilepsy division between April 2018...
3.
Negishi Y, Kurosawa K, Takano K, Matsubara K, Nishiyama T, Saitoh S
J Hum Genet
. 2022 Oct;
67(12):735-738.
PMID: 36220858
Schaaf-Yang syndrome (SYS) is a congenital disorder characterized by developmental delay, autism spectrum disorder and congenital joint contractures. In this study, a nationwide epidemiological questionnaire-based survey of SYS in the...
4.
Yamaguchi T, Hayashi S, Hayashi D, Matsuyama T, Koitabashi N, Ogiwara K, et al.
Am J Med Genet A
. 2022 Oct;
191(1):37-51.
PMID: 36189931
Vascular Ehlers-Danlos syndrome (vEDS) is a hereditary connective tissue disorder (HCTD) characterized by arterial dissection/aneurysm/rupture, sigmoid colon rupture, or uterine rupture. Diagnosis is confirmed by detecting heterozygous variants in COL3A1....
5.
Hoshino Y, Kodaira M, Matsuno A, Kaneko T, Fukuyama T, Takano K, et al.
Intern Med
. 2021 Aug;
61(4):553-557.
PMID: 34433721
A 49-year-old Japanese man had shown developmental delay, learning difficulties, epilepsy, and slowly progressive gait disturbance in elementary school. At 46 years old, he experienced repeated drowsiness with or without...
6.
Iwayama H, Tanaka T, Aoyama K, Moroto M, Adachi S, Fujisawa Y, et al.
Front Neurol
. 2021 Aug;
12:657820.
PMID: 34335438
Monocarboxylate transporter 8 (MCT8) is a thyroid hormone transmembrane transporter protein. MCT8 deficiency induces severe X-linked psychomotor retardation. Previous reports have documented delayed myelination in the central white matter (WM)...
7.
Sado M, Takano K, Kurata K, Kitahara M
Pediatr Int
. 2021 Jul;
63(10):1256-1258.
PMID: 34268835
No abstract available.
8.
Aref-Eshghi E, Kerkhof J, Pedro V, France G, Barat-Houari M, Ruiz-Pallares N, et al.
Am J Hum Genet
. 2021 Jun;
108(6):1161-1163.
PMID: 34087165
No abstract available.
9.
Iwayama H, Kakita H, Iwasa M, Adachi S, Takano K, Kikuchi M, et al.
Thyroid
. 2021 May;
31(9):1316-1321.
PMID: 34049438
Monocarboxylate transporter 8 (MCT8) deficiency is an X-chromosome-linked neurodevelopmental disorder resulting from impaired thyroid hormone transport across the cell membrane. The diagnosis of MCT8 deficiency is typically delayed owing to...
10.
Hanafusa H, Hidaka Y, Yamaguchi T, Shimojo H, Tsukahara T, Murase T, et al.
Am J Med Genet A
. 2021 Apr;
185(7):2175-2179.
PMID: 33884742
Transient receptor potential channel C6 encoded by TRPC6 is involved in slit diaphragm formation in podocytes, and abnormalities of the TRPC6 protein cause various glomerular diseases. The first identified pathogenic...