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Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.
Narumi-Kishimoto Y, Araki N, Migita O, Kawai T, Okamura K, Nakabayashi K, Kaname T, Ozawa Y, Ozawa H, Takada F, Hata K. Narumi-Kishimoto Y, et al. Among authors: takada f. Eur J Med Genet. 2019 Sep;62(9):103547. doi: 10.1016/j.ejmg.2018.09.014. Epub 2018 Sep 26. Eur J Med Genet. 2019. PMID: 30267900 Free article. No abstract available.
Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.
Maeda T, Higashimoto K, Jozaki K, Yatsuki H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, Migita M, Kosaki R, Matsubara K, Ogata T, Matsuo M, Hamasaki Y, Ohtsuka Y, Nishioka K, Joh K, Mukai T, Hata K, Soejima H. Maeda T, et al. Among authors: takada f. Genet Med. 2014 Dec;16(12):903-12. doi: 10.1038/gim.2014.46. Epub 2014 May 8. Genet Med. 2014. PMID: 24810686 Free PMC article.
Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants.
Matsuura N, Kaname T, Niikawa N, Ooyama Y, Shinohara O, Yokota Y, Ohtsu S, Takubo N, Kitsuda K, Shibayama K, Takada F, Koike A, Sano H, Ito Y, Ishikura K. Matsuura N, et al. Among authors: takada f. Endocr Connect. 2022 Sep 22;11(10):e220151. doi: 10.1530/EC-22-0151. Print 2022 Oct 1. Endocr Connect. 2022. PMID: 36006853 Free PMC article.
Cytogenetic and molecular study of Angelman syndrome.
Imaizumi K, Takada F, Kuroki Y, Naritomi K, Hamabe J, Niikawa N. Imaizumi K, et al. Among authors: takada f. Am J Med Genet. 1990 Mar;35(3):314-8. doi: 10.1002/ajmg.1320350305. Am J Med Genet. 1990. PMID: 2309778
Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.
Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T. Narumi Y, et al. Among authors: takada f. Am J Med Genet A. 2014 May;164A(5):1272-6. doi: 10.1002/ajmg.a.36433. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664492 Review.
54 results