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Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.
Mishra D, Kato T, Inagaki H, Kosho T, Wakui K, Kido Y, Sakazume S, Taniguchi-Ikeda M, Morisada N, Iijima K, Fukushima Y, Emanuel BS, Kurahashi H. Mishra D, et al. Among authors: wakui k. Mol Cytogenet. 2014 Aug 13;7:55. doi: 10.1186/s13039-014-0055-x. eCollection 2014. Mol Cytogenet. 2014. PMID: 25478009 Free PMC article.
[Tricho-rhino-phalangeal syndrome, type II].
Wakui K, Fukushima Y. Wakui K, et al. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):755-6. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11529008 Review. Japanese. No abstract available.
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: wakui k. 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
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T. Takano K, et al. Among authors: wakui k. Am J Med Genet A. 2016 Feb;170A(2):322-328. doi: 10.1002/ajmg.a.37432. Epub 2015 Oct 20. Am J Med Genet A. 2016. PMID: 26481852 Review.
218 results