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Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome.
Takenouchi T, Yagihashi T, Tsuchiya H, Torii C, Hayashi K, Kosaki R, Saitoh S, Takahashi T, Kosaki K. Takenouchi T, et al. Among authors: saitoh s. Am J Med Genet A. 2012 Oct;158A(10):2621-3. doi: 10.1002/ajmg.a.35230. Epub 2012 Aug 10. Am J Med Genet A. 2012. PMID: 22887345 No abstract available.
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.
Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Okamoto N, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H, Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J. Hayashi S, et al. Among authors: saitoh s. J Hum Genet. 2011 Feb;56(2):110-24. doi: 10.1038/jhg.2010.129. Epub 2010 Oct 28. J Hum Genet. 2011. PMID: 20981036
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.
Hosoki K, Ohta T, Natsume J, Imai S, Okumura A, Matsui T, Harada N, Bacino CA, Scaglia F, Jones JY, Niikawa N, Saitoh S. Hosoki K, et al. Among authors: saitoh s. Am J Med Genet A. 2012 Aug;158A(8):1891-6. doi: 10.1002/ajmg.a.35439. Epub 2012 Jun 18. Am J Med Genet A. 2012. PMID: 22711443
KIF1A mutation in a patient with progressive neurodegeneration.
Okamoto N, Miya F, Tsunoda T, Yanagihara K, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: saitoh s. J Hum Genet. 2014 Nov;59(11):639-41. doi: 10.1038/jhg.2014.80. Epub 2014 Sep 25. J Hum Genet. 2014. PMID: 25253658
1,614 results