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Communication disorders in the 22Q11.2 microdeletion syndrome.
Solot CB, Knightly C, Handler SD, Gerdes M, McDonald-McGinn DM, Moss E, Wang P, Cohen M, Randall P, Larossa D, Driscoll DA. Solot CB, et al. Among authors: driscoll da. J Commun Disord. 2000 May-Jun;33(3):187-203; quiz 203-4. doi: 10.1016/s0021-9924(00)00018-6. J Commun Disord. 2000. PMID: 10907715
The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH. McDonald-McGinn DM, et al. Genet Couns. 1999;10(1):11-24. Genet Couns. 1999. PMID: 10191425
Nasal dimple as part of the 22q11.2 deletion syndrome.
Gripp KW, McDonald-McGinn DM, Driscoll DA, Reed LA, Emanuel BS, Zackai EH. Gripp KW, et al. Among authors: driscoll da. Am J Med Genet. 1997 Mar 31;69(3):290-2. Am J Med Genet. 1997. PMID: 9096759
The 22q11.2 deletion in African-American patients: an underdiagnosed population?
McDonald-McGinn DM, Minugh-Purvis N, Kirschner RE, Jawad A, Tonnesen MK, Catanzaro JR, Goldmuntz E, Driscoll D, Larossa D, Emanuel BS, Zackai EH. McDonald-McGinn DM, et al. Am J Med Genet A. 2005 Apr 30;134(3):242-6. doi: 10.1002/ajmg.a.30069. Am J Med Genet A. 2005. PMID: 15754359 Free PMC article.
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.
Saitta SC, Harris SE, Gaeth AP, Driscoll DA, McDonald-McGinn DM, Maisenbacher MK, Yersak JM, Chakraborty PK, Hacker AM, Zackai EH, Ashley T, Emanuel BS. Saitta SC, et al. Among authors: driscoll da. Hum Mol Genet. 2004 Feb 15;13(4):417-28. doi: 10.1093/hmg/ddh041. Epub 2003 Dec 17. Hum Mol Genet. 2004. PMID: 14681306 Free PMC article.
175 results