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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: imoto i. 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
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.
Uehara DT, Hayashi S, Okamoto N, Mizuno S, Chinen Y, Kosaki R, Kosho T, Kurosawa K, Matsumoto H, Mitsubuchi H, Numabe H, Saitoh S, Makita Y, Hata A, Imoto I, Inazawa J. Uehara DT, et al. Among authors: imoto i. J Hum Genet. 2016 Apr;61(4):335-43. doi: 10.1038/jhg.2015.154. Epub 2016 Jan 7. J Hum Genet. 2016. PMID: 26740234
A novel PTCH1 mutation in a patient with Gorlin syndrome.
Okamoto N, Naruto T, Kohmoto T, Komori T, Imoto I. Okamoto N, et al. Among authors: imoto i. Hum Genome Var. 2014 Nov 13;1:14022. doi: 10.1038/hgv.2014.22. eCollection 2014. Hum Genome Var. 2014. PMID: 27081512 Free PMC article.
A FRMD7 variant in a Japanese family causes congenital nystagmus.
Kohmoto T, Okamoto N, Satomura S, Naruto T, Komori T, Hashimoto T, Imoto I. Kohmoto T, et al. Among authors: imoto i. Hum Genome Var. 2015 Feb 12;2:15002. doi: 10.1038/hgv.2015.2. eCollection 2015. Hum Genome Var. 2015. PMID: 27081518 Free PMC article.
341 results