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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Rivière JB, Faivre L, Thevenon J. Assoum M, et al. Among authors: miyake n. Am J Hum Genet. 2016 Dec 1;99(6):1368-1376. doi: 10.1016/j.ajhg.2016.10.009. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889060 Free PMC article.
[Microarray CGH].
Miyake N, Matsumoto N. Miyake N, et al. 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. 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
Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid.
Miura S, Miura K, Masuzaki H, Miyake N, Yoshiura KI, Sosonkina N, Harada N, Shimokawa O, Nakayama D, Yoshimura S, Matsumoto N, Niikawa N, Ishimaru T. Miura S, et al. Among authors: miyake n. J Hum Genet. 2006;51(5):412-417. doi: 10.1007/s10038-006-0376-7. Epub 2006 Apr 19. J Hum Genet. 2006. PMID: 16622586
Angelman syndrome caused by an identical familial 1,487-kb deletion.
Sato K, Iwakoshi M, Shimokawa O, Sakai H, Ohta T, Saitoh S, Miyake N, Niikawa N, Harada N, Saitsu H, Mizuguchi T, Matsumoto N. Sato K, et al. Among authors: miyake n. Am J Med Genet A. 2007 Jan 1;143A(1):98-101. doi: 10.1002/ajmg.a.31550. Am J Med Genet A. 2007. PMID: 17152063 No abstract available.
Alu-related 5q35 microdeletions in Sotos syndrome.
Mochizuki J, Saitsu H, Mizuguchi T, Nishimura A, Visser R, Kurotaki N, Miyake N, Unno N, Matsumoto N. Mochizuki J, et al. Among authors: miyake n. Clin Genet. 2008 Oct;74(4):384-91. doi: 10.1111/j.1399-0004.2008.01032.x. Epub 2008 May 25. Clin Genet. 2008. PMID: 18505455
No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome.
Kuniba H, Sato D, Yoshiura K, Ohashi H, Kurosawa K, Miyake N, Kondoh T, Matsumoto T, Nagai T, Okamoto N, Fukushima Y, Naritomi K, Matsumoto N, Niikawa N. Kuniba H, et al. Among authors: miyake n. Am J Med Genet A. 2008 Jul 15;146A(14):1893-6. doi: 10.1002/ajmg.a.32382. Am J Med Genet A. 2008. PMID: 18553519 No abstract available.
706 results