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Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
Vervoort L, Demaerel W, Rengifo LY, Odrzywolski A, Vergaelen E, Hestand MS, Breckpot J, Devriendt K, Swillen A, McDonald-McGinn DM, Fiksinski AM, Zinkstok JR, Morrow BE, Heung T, Vorstman JAS, Bassett AS, Chow EWC, Shashi V; International 22q11.2 Brain; Behavior Consortium; Vermeesch JR. Vervoort L, et al. Hum Mol Genet. 2019 Nov 15;28(22):3724-3733. doi: 10.1093/hmg/ddz166. Hum Mol Genet. 2019. PMID: 31884517 Free PMC article.
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.
Craniosynostosis: another feature of the 22q11.2 deletion syndrome.
McDonald-McGinn DM, Gripp KW, Kirschner RE, Maisenbacher MK, Hustead V, Schauer GM, Keppler-Noreuil KM, Ciprero KL, Pasquariello P Jr, LaRossa D, Bartlett SP, Whitaker LA, Zackai EH. McDonald-McGinn DM, et al. Am J Med Genet A. 2005 Aug 1;136A(4):358-62. doi: 10.1002/ajmg.a.30746. Am J Med Genet A. 2005. PMID: 16001439
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
Binenbaum G, McDonald-McGinn DM, Zackai EH, Walker BM, Coleman K, Mach AM, Adam M, Manning M, Alcorn DM, Zabel C, Anderson DR, Forbes BJ. Binenbaum G, et al. Am J Med Genet A. 2008 Apr 1;146A(7):904-9. doi: 10.1002/ajmg.a.32156. Am J Med Genet A. 2008. PMID: 18324686 Free PMC article.
283 results