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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: tsuchida n. 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
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: tsuchida n. 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
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
Hijikata A, Suyama M, Kikugawa S, Matoba R, Naruto T, Enomoto Y, Kurosawa K, Harada N, Yanagi K, Kaname T, Miyako K, Takazawa M, Sasai H, Hosokawa J, Itoga S, Yamaguchi T, Kosho T, Matsubara K, Kuroki Y, Fukami M, Adachi K, Nanba E, Tsuchida N, Uchiyama Y, Matsumoto N, Nishimura K, Ohara O. Hijikata A, et al. Among authors: tsuchida n. Nucleic Acids Res. 2024 Jan 11;52(1):114-124. doi: 10.1093/nar/gkad1140. Nucleic Acids Res. 2024. PMID: 38015437 Free PMC article.
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.
Utsuno Y, Hamada K, Hamanaka K, Miyoshi K, Tsuchimoto K, Sunada S, Itai T, Sakamoto M, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Miyatake S, Misawa K, Mizuguchi T, Kato Y, Saito K, Ogata K, Matsumoto N. Utsuno Y, et al. Among authors: tsuchida n. J Hum Genet. 2024 Feb;69(2):69-77. doi: 10.1038/s10038-023-01206-5. Epub 2023 Nov 27. J Hum Genet. 2024. PMID: 38012394
Protective effect of hydroxychloroquine on infections in patients with systemic lupus erythematosus: an observational study using the LUNA registry.
Hidekawa C, Yoshimi R, Saigusa Y, Tamura J, Kojitani N, Suzuki N, Sakurai N, Yoshioka Y, Sugiyama-Kawahara Y, Kunishita Y, Kishimoto D, Higashitani K, Sato Y, Komiya T, Nagai H, Hamada N, Maeda A, Tsuchida N, Hirahara L, Soejima Y, Takase-Minegishi K, Kirino Y, Yajima N, Sada KE, Miyawaki Y, Ichinose K, Ohno S, Kajiyama H, Sato S, Shimojima Y, Fujiwara M, Nakajima H. Hidekawa C, et al. Among authors: tsuchida n. Front Immunol. 2023 Sep 1;14:1227403. doi: 10.3389/fimmu.2023.1227403. eCollection 2023. Front Immunol. 2023. PMID: 37720209 Free PMC article.
262 results