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Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.
Beck DB, Basar MA, Asmar AJ, Thompson JJ, Oda H, Uehara DT, Saida K, Pajusalu S, Talvik I, D'Souza P, Bodurtha J, Mu W, Barañano KW, Miyake N, Wang R, Kempers M, Tamada T, Nishimura Y, Okada S, Kosho T, Dale R, Mitra A, Macnamara E; Undiagnosed Diseases Network; Matsumoto N, Inazawa J, Walkiewicz M, Õunap K, Tifft CJ, Aksentijevich I, Kastner DL, Rocha PP, Werner A. Beck DB, et al. Among authors: matsumoto n. Sci Adv. 2021 Jan 20;7(4):eabe2116. doi: 10.1126/sciadv.abe2116. Print 2021 Jan. Sci Adv. 2021. PMID: 33523931 Free PMC article.
[Microarray CGH].
Miyake N, Matsumoto N. Miyake N, et al. Among authors: matsumoto n. Nihon Rinsho. 2005 Dec;63 Suppl 12:167-70. Nihon Rinsho. 2005. PMID: 16416789 Review. Japanese. No abstract available.
BAC array CGH reveals genomic aberrations in idiopathic mental retardation.
Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: matsumoto n. Am J Med Genet A. 2006 Feb 1;140(3):205-11. doi: 10.1002/ajmg.a.31098. Am J Med Genet A. 2006. PMID: 16419101
De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation.
Nishimura A, Hiraki Y, Shimoda H, Nishimura G, Tadaki H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Nishimura A, et al. Among authors: matsumoto n. Am J Med Genet A. 2010 May;152A(5):1322-5. doi: 10.1002/ajmg.a.33371. Am J Med Genet A. 2010. PMID: 20425845 No abstract available.
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N. Miyake N, et al. Among authors: matsumoto n. Hum Mutat. 2010 Aug;31(8):966-74. doi: 10.1002/humu.21300. Hum Mutat. 2010. PMID: 20533528
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.
Nishimura-Tadaki A, Wada T, Bano G, Gough K, Warner J, Kosho T, Ando N, Hamanoue H, Sakakibara H, Nishimura G, Tsurusaki Y, Doi H, Miyake N, Wakui K, Saitsu H, Fukushima Y, Hirahara F, Matsumoto N. Nishimura-Tadaki A, et al. Among authors: matsumoto n. J Hum Genet. 2011 Feb;56(2):156-60. doi: 10.1038/jhg.2010.155. Epub 2010 Dec 9. J Hum Genet. 2011. PMID: 21150920
3,349 results