Takano K - Search Results

1

A nationwide survey of Schaaf-Yang syndrome in Japan.

Negishi Y, Kurosawa K, Takano K, Matsubara K, Nishiyama T, Saitoh S. Negishi Y, et al. Among authors: takano k. J Hum Genet. 2022 Dec;67(12):735-738. doi: 10.1038/s10038-022-01089-y. Epub 2022 Oct 12. J Hum Genet. 2022. PMID: 36220858

2

DNA demethylation reactivation of imprinted genes in cell lines from patients with Prader-Willi syndrome and a mouse model.

Takano K, Okajima M, Saitoh S. Takano K, et al. Am J Med Genet A. 2007 Jun 15;143A(12):1386-90. doi: 10.1002/ajmg.a.31765. Am J Med Genet A. 2007. PMID: 17506103 No abstract available.

3

West syndrome in a patient with Schinzel-Giedion syndrome.

Miyake F, Kuroda Y, Naruto T, Ohashi I, Takano K, Kurosawa K. Miyake F, et al. Among authors: takano k. J Child Neurol. 2015 Jun;30(7):932-6. doi: 10.1177/0883073814541468. Epub 2014 Jul 14. J Child Neurol. 2015. PMID: 25028416

4

Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome.

Saitoh S, Wada T, Okajima M, Takano K, Sudo A, Niikawa N. Saitoh S, et al. Among authors: takano k. Brain Dev. 2005 Aug;27(5):389-91. doi: 10.1016/j.braindev.2003.12.013. Brain Dev. 2005. PMID: 16023557

5

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients.

Kawashima S, Nakamura A, Inoue T, Matsubara K, Horikawa R, Wakui K, Takano K, Fukushima Y, Tatematsu T, Mizuno S, Tsubaki J, Kure S, Matsubara Y, Ogata T, Fukami M, Kagami M. Kawashima S, et al. Among authors: takano k. J Clin Endocrinol Metab. 2018 Jun 1;103(6):2083-2088. doi: 10.1210/jc.2017-02780. J Clin Endocrinol Metab. 2018. PMID: 29878129

6

Possible involvement of the tip of temporal lobe in Landau-Kleffner syndrome.

Shiraishi H, Takano K, Shiga T, Okajima M, Sudo A, Asahina N, Kohsaka S, Fukuhara M, Saitoh S. Shiraishi H, et al. Among authors: takano k. Brain Dev. 2007 Sep;29(8):529-33. doi: 10.1016/j.braindev.2007.01.011. Epub 2007 Mar 26. Brain Dev. 2007. PMID: 17383838

7

Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I.

Takano K, Nakamoto T, Okajima M, Sudo A, Uetake K, Saitoh S. Takano K, et al. Pediatr Neurol. 2003 Feb;28(2):142-4. doi: 10.1016/s0887-8994(02)00619-7. Pediatr Neurol. 2003. PMID: 12699867

8

High uptake on 11C-methionine positron emission tomographic scan of basal ganglia germinoma with cerebral hemiatrophy.

Sudo A, Shiga T, Okajima M, Takano K, Terae S, Sawamura Y, Ohnishi A, Nagashima K, Saitoh S. Sudo A, et al. Among authors: takano k. AJNR Am J Neuroradiol. 2003 Oct;24(9):1909-11. AJNR Am J Neuroradiol. 2003. PMID: 14561627 Free PMC article.

9

WDR45 mutations in three male patients with West syndrome.

Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, Matsumoto N. Nakashima M, et al. Among authors: takano k. J Hum Genet. 2016 Jul;61(7):653-61. doi: 10.1038/jhg.2016.27. Epub 2016 Mar 31. J Hum Genet. 2016. PMID: 27030146 Review.

10

Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease).

Takahashi M, Yamamoto A, Takano K, Sudo A, Wada T, Goto Y, Nishino I, Saitoh S. Takahashi M, et al. Among authors: takano k. Ann Neurol. 2002 Jul;52(1):122-5. doi: 10.1002/ana.10235. Ann Neurol. 2002. PMID: 12112061

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