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A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant.
Ohashi T, Kunimoto H, Nukui J, Teshigawara H, Koyama S, Miyazaki T, Hagihara M, Matsumoto K, Koshimizu E, Tsuchida N, Hamanoue H, Miyatake S, Yachie A, Matsumoto N, Nakajima H. Ohashi T, et al. Among authors: miyatake s. Int J Hematol. 2024 May;119(5):603-607. doi: 10.1007/s12185-024-03751-x. Epub 2024 Mar 15. Int J Hematol. 2024. PMID: 38489090
A Novel Mutation of VPS13D-related Disorders with Parkinsonism.
Harada S, Azuma Y, Misumi Y, Hayashi H, Matsubara S, Nakahara K, Miyatake S, Matsumoto N, Ueda M. Harada S, et al. Among authors: miyatake s. Intern Med. 2024 Feb 19. doi: 10.2169/internalmedicine.3101-23. Online ahead of print. Intern Med. 2024. PMID: 38369353 Free article.
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.
Inoue Y, Tsuchida N, Kim CA, de Oliveira Stephan B, Castro MAA, Honjo RS, Bertola DR, Uchiyama Y, Hamanaka K, Fujita A, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Matsumoto N. Inoue Y, et al. Among authors: miyatake s. J Hum Genet. 2024 Apr;69(3-4):163-167. doi: 10.1038/s10038-024-01219-8. Epub 2024 Jan 17. J Hum Genet. 2024. PMID: 38228874
Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia.
Sugeno N, Hasegawa T, Haginoya K, Kubota T, Ikeda K, Nakamura T, Ishiyama S, Sato K, Yoshida S, Koshimizu E, Uematsu M, Miyatake S, Matsumoto N, Aoki M. Sugeno N, et al. Among authors: miyatake s. Mol Syndromol. 2023 Dec;14(6):461-468. doi: 10.1159/000530625. Epub 2023 Jun 26. Mol Syndromol. 2023. PMID: 38108041
Expression and distribution of hypoxia-inducible factor-1α and vascular endothelial growth factor in comparison between radiation necrosis and tumor tissue in metastatic brain tumor: A case report.
Takagi F, Furuse M, Kuwabara H, Kambara A, Omura N, Tanabe S, Yagi R, Hiramatsu R, Kameda M, Nonoguchi N, Kawabata S, Takami T, Miyatake SI, Wanibuchi M. Takagi F, et al. Among authors: miyatake si. Neuropathology. 2023 Dec 8. doi: 10.1111/neup.12958. Online ahead of print. Neuropathology. 2023. PMID: 38069461
RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.
Wada T, Doi H, Okubo M, Tada M, Ueda N, Suzuki H, Tominaga W, Koike H, Komiya H, Kubota S, Hashiguchi S, Nakamura H, Takahashi K, Kunii M, Tanaka K, Miyaji Y, Higashiyama Y, Koshimizu E, Miyatake S, Katsuno M, Fujii S, Takahashi H, Matsumoto N, Takeuchi H, Tanaka F. Wada T, et al. Among authors: miyatake s. Ann Neurol. 2024 Mar;95(3):607-613. doi: 10.1002/ana.26848. Epub 2023 Dec 27. Ann Neurol. 2024. PMID: 38062616
563 results