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Mosaic upd(7)mat in a patient with Silver-Russell syndrome.
Fuke-Sato T, Yamazawa K, Nakabayashi K, Matsubara K, Matsuoka K, Hasegawa T, Dobashi K, Ogata T. Fuke-Sato T, et al. Among authors: nakabayashi k. Am J Med Genet A. 2012 Feb;158A(2):465-8. doi: 10.1002/ajmg.a.34404. Epub 2012 Jan 13. Am J Med Genet A. 2012. PMID: 22246578 No abstract available.
Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.
Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T. Fuke T, et al. Among authors: nakabayashi k. PLoS One. 2013;8(3):e60105. doi: 10.1371/journal.pone.0060105. Epub 2013 Mar 22. PLoS One. 2013. PMID: 23533668 Free PMC article.
Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression.
Fukami M, Tsuchiya T, Vollbach H, Brown KA, Abe S, Ohtsu S, Wabitsch M, Burger H, Simpson ER, Umezawa A, Shihara D, Nakabayashi K, Bulun SE, Shozu M, Ogata T. Fukami M, et al. Among authors: nakabayashi k. J Clin Endocrinol Metab. 2013 Dec;98(12):E2013-21. doi: 10.1210/jc.2013-2520. Epub 2013 Sep 24. J Clin Endocrinol Metab. 2013. PMID: 24064691 Free PMC article.
575 results