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What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.
Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM. Campbell IM, et al. Among authors: sullivan ke. Am J Med Genet A. 2018 Oct;176(10):2058-2069. doi: 10.1002/ajmg.a.40637. Am J Med Genet A. 2018. PMID: 30380191 Free PMC article.
Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.
McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J. McDonald-McGinn DM, et al. Am J Med Genet. 1995 Oct 23;59(1):103-13. doi: 10.1002/ajmg.1320590122. Am J Med Genet. 1995. PMID: 8849001
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
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. Genet Test. 1997;1(2):99-108. doi: 10.1089/gte.1997.1.99. Genet Test. 1997. PMID: 10464633
425 results