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Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.
Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, Ikeuchi M, Shimakawa S, Shimizu K, Mizuno S, Kubota M, Adachi M, Saito Y, Tomiwa K, Haginoya K, Numabe H, Kako Y, Hayashi A, Sakamoto H, Hiraki Y, Minami K, Takemoto K, Watanabe K, Miura K, Chiyonobu T, Kumada T, Imai K, Maegaki Y, Nagata S, Kosaki K, Izumi T, Nagai T, Yamamoto T. Shimada S, et al. Among authors: shimakawa s. Brain Dev. 2015 May;37(5):515-26. doi: 10.1016/j.braindev.2014.08.002. Epub 2014 Aug 27. Brain Dev. 2015. PMID: 25172301
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.
Tachibana N, Hosono K, Nomura S, Arai S, Torii K, Kurata K, Sato M, Shimakawa S, Azuma N, Ogata T, Wada Y, Okamoto N, Saitsu H, Nishina S, Hotta Y. Tachibana N, et al. Among authors: shimakawa s. Genes (Basel). 2022 Feb 16;13(2):359. doi: 10.3390/genes13020359. Genes (Basel). 2022. PMID: 35205402 Free PMC article.
A nation-wide survey of Japanese pediatric MOG antibody-associated diseases.
Azumagawa K, Nakashima I, Kaneko K, Torisu H, Sakai Y, Kira R, Sakuma H, Tanaka K, Shigeri Y, Tanaka Y, Nakajima H, Shimakawa S, Tamai H. Azumagawa K, et al. Among authors: shimakawa s. Brain Dev. 2021 Jun;43(6):705-713. doi: 10.1016/j.braindev.2021.01.008. Epub 2021 Feb 18. Brain Dev. 2021. PMID: 33610339
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.
Itoh M, Dai H, Horike SI, Gonzalez J, Kitami Y, Meguro-Horike M, Kuki I, Shimakawa S, Yoshinaga H, Ota Y, Okazaki T, Maegaki Y, Nabatame S, Okazaki S, Kawawaki H, Ueno N, Goto YI, Kato Y. Itoh M, et al. Among authors: shimakawa s. Brain. 2019 Mar 1;142(3):560-573. doi: 10.1093/brain/awz001. Brain. 2019. PMID: 30715177
60 results