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94 results

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Page 1
Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome.
Miyake N, Visser R, Kinoshita A, Yoshiura K, Niikawa N, Kondoh T, Matsumoto N, Harada N, Okamoto N, Sonoda T, Naritomi K, Kaname T, Chinen Y, Tonoki H, Kurosawa K. Miyake N, et al. Among authors: tonoki h. Am J Med Genet A. 2005 May 15;135(1):103-5. doi: 10.1002/ajmg.a.30637. Am J Med Genet A. 2005. PMID: 15723327 Free article. No abstract available.
No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients.
Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Ohashi H, Kurosawa K, Naritomi K, Kaname T, Nagai T, Shotelersuk V, Hou JW, Fukushima Y, Kondoh T, Matsumoto T, Shinoki T, Kato M, Tonoki H, Nomura M, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: tonoki h. Am J Med Genet A. 2006 Feb 1;140(3):291-3. doi: 10.1002/ajmg.a.31012. Am J Med Genet A. 2006. PMID: 16278908 No abstract available.
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ. Hannibal MC, et al. Among authors: tonoki h. Am J Med Genet A. 2011 Jul;155A(7):1511-6. doi: 10.1002/ajmg.a.34074. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671394 Free PMC article.
Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.
Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Naritomi K, Matsumoto N, Kinoshita A, Yoshiura KI, Niikawa N. Kuniba H, et al. Among authors: tonoki h. J Med Genet. 2008 Jul;45(7):479-80. doi: 10.1136/jmg.2008.058503. J Med Genet. 2008. PMID: 18593871 Free article. No abstract available.
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N. Kuniba H, et al. Among authors: tonoki h. J Hum Genet. 2009 May;54(5):304-9. doi: 10.1038/jhg.2009.30. Epub 2009 Apr 3. J Hum Genet. 2009. PMID: 19343044
MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N. Miyake N, et al. Among authors: tonoki h. Am J Med Genet A. 2013 Sep;161A(9):2234-43. doi: 10.1002/ajmg.a.36072. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913813
No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients.
Kobayashi S, Uemura H, Kohda T, Nagai T, Chinen Y, Naritomi K, Kinoshita EI, Ohashi H, Imaizumi K, Tsukahara M, Sugio Y, Tonoki H, Kishino T, Tanaka T, Yamada M, Tsutsumi O, Niikawa N, Kaneko-Ishino T, Ishino F. Kobayashi S, et al. Among authors: tonoki h. Am J Med Genet. 2001 Dec 1;104(3):225-31. Am J Med Genet. 2001. PMID: 11754049
Mutchinick syndrome in a Japanese girl.
Tonoki H, Hattori T, Kamoshida H, Ohta Y, Niikawa N. Tonoki H, et al. Am J Med Genet. 1999 Mar 12;83(2):96-9. Am J Med Genet. 1999. PMID: 10190479
94 results