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Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
Enomoto Y, Yokoi T, Tsurusaki Y, Murakami H, Tominaga M, Minatogawa M, Abe-Hatano C, Kuroda Y, Ohashi I, Ida K, Shiiya S, Kumaki T, Naruto T, Mitsui J, Harada N, Kido Y, Kurosawa K. Enomoto Y, et al. Among authors: kurosawa k. Clin Genet. 2022 Mar;101(3):335-345. doi: 10.1111/cge.14103. Epub 2022 Jan 4. Clin Genet. 2022. PMID: 34958122
Chromosome aberrations in Rubinstein-Taybi syndrome.
Imaizumi K, Kurosawa K, Masuno M, Tsukahara M, Kuroki Y. Imaizumi K, et al. Among authors: kurosawa k. Clin Genet. 1993 Apr;43(4):215-6. doi: 10.1111/j.1399-0004.1993.tb04468.x. Clin Genet. 1993. PMID: 8330456 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: kurosawa k. 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
A novel homozygous mutation of DARS2 may cause a severe LBSL variant.
Miyake N, Yamashita S, Kurosawa K, Miyatake S, Tsurusaki Y, Doi H, Saitsu H, Matsumoto N. Miyake N, et al. Among authors: kurosawa k. Clin Genet. 2011 Sep;80(3):293-6. doi: 10.1111/j.1399-0004.2011.01644.x. Clin Genet. 2011. PMID: 21815884 No abstract available.
650 results