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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: ohtsu s. 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.
[Prevention of pediatric diabetes].
Ohtsu S, Yokota Y. Ohtsu S, et al. Nihon Rinsho. 2012 Jul;70 Suppl 5:43-6. Nihon Rinsho. 2012. PMID: 23156362 Japanese. No abstract available.
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.
Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng JF, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Kurotaki N, et al. Among authors: ohtsu s. Hum Mutat. 2003 Nov;22(5):378-87. doi: 10.1002/humu.10270. Hum Mutat. 2003. PMID: 14517949
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: ohtsu s. 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.
58 results