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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: ming je. 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.
Symptomatic Chiari I malformation in Kabuki syndrome.
Ciprero KL, Clayton-Smith J, Donnai D, Zimmerman RA, Zackai EH, Ming JE. Ciprero KL, et al. Among authors: ming je. Am J Med Genet A. 2005 Jan 30;132A(3):273-5. doi: 10.1002/ajmg.a.30387. Am J Med Genet A. 2005. PMID: 15523623
Autoimmune disorders in Kabuki syndrome.
Ming JE, Russell KL, McDonald-McGinn DM, Zackai EH. Ming JE, et al. Am J Med Genet A. 2005 Jan 30;132A(3):260-2. doi: 10.1002/ajmg.a.30332. Am J Med Genet A. 2005. PMID: 15523604
Immune abnormalities are a frequent manifestation of Kabuki syndrome.
Hoffman JD, Ciprero KL, Sullivan KE, Kaplan PB, McDonald-McGinn DM, Zackai EH, Ming JE. Hoffman JD, et al. Among authors: ming je. Am J Med Genet A. 2005 Jun 15;135(3):278-81. doi: 10.1002/ajmg.a.30722. Am J Med Genet A. 2005. PMID: 15887282 Review.
61 results