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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. Among authors: ming je. Genet Couns. 1999;10(1):11-24. Genet Couns. 1999. PMID: 10191425
Skeletal anomalies and deformities in patients with deletions of 22q11.
Ming JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elias ER, Russell BM, Irons M, Emanuel BS, Markowitz RI, Zackai EH. Ming JE, et al. Am J Med Genet. 1997 Oct 17;72(2):210-5. doi: 10.1002/(sici)1096-8628(19971017)72:2<210::aid-ajmg16>3.0.co;2-q. Am J Med Genet. 1997. PMID: 9382145
The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.
McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, Driscoll D, Clark BJ 3rd, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH. McDonald-McGinn DM, et al. Among authors: ming je. Genet Test. 1997;1(2):99-108. doi: 10.1089/gte.1997.1.99. Genet Test. 1997. PMID: 10464633
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