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High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors.
Shirai R, Osumi T, Terashima K, Kiyotani C, Uchiyama M, Tsujimoto S, Yoshida M, Yoshida K, Uchiyama T, Tomizawa D, Shioda Y, Sekiguchi M, Watanabe K, Keino D, Ueno-Yokohata H, Ohki K, Takita J, Ito S, Deguchi T, Kiyokawa N, Ogiwara H, Hishiki T, Ogawa S, Okita H, Matsumoto K, Yoshioka T, Kato M. Shirai R, et al. Among authors: ito s. Eur J Hum Genet. 2020 Aug;28(8):1124-1128. doi: 10.1038/s41431-020-0614-z. Epub 2020 Mar 26. Eur J Hum Genet. 2020. PMID: 32218533 Free PMC article.
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.
Iwama K, Sasaki M, Hirabayashi S, Ohba C, Iwabuchi E, Miyatake S, Nakashima M, Miyake N, Ito S, Saitsu H, Matsumoto N. Iwama K, et al. Among authors: ito s. J Hum Genet. 2016 Jun;61(6):527-31. doi: 10.1038/jhg.2016.9. Epub 2016 Feb 18. J Hum Genet. 2016. PMID: 26888482
Diplotype analysis of NUDT15 variants and 6-mercaptopurine sensitivity in pediatric lymphoid neoplasms.
Tsujimoto S, Osumi T, Uchiyama M, Shirai R, Moriyama T, Nishii R, Yamada Y, Kudo K, Sekiguchi M, Arakawa Y, Yoshida M, Uchiyama T, Terui K, Ito S, Koh K, Takita J, Ito E, Tomizawa D, Manabe A, Kiyokawa N, Yang JJ, Kato M. Tsujimoto S, et al. Among authors: ito e, ito s. Leukemia. 2018 Dec;32(12):2710-2714. doi: 10.1038/s41375-018-0190-1. Epub 2018 Jul 2. Leukemia. 2018. PMID: 29967377 Free PMC article. No abstract available.
9,204 results