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High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays.
Urban AE, Korbel JO, Selzer R, Richmond T, Hacker A, Popescu GV, Cubells JF, Green R, Emanuel BS, Gerstein MB, Weissman SM, Snyder M. Urban AE, et al. Among authors: hacker a. Proc Natl Acad Sci U S A. 2006 Mar 21;103(12):4534-9. doi: 10.1073/pnas.0511340103. Epub 2006 Mar 14. Proc Natl Acad Sci U S A. 2006. PMID: 16537408 Free PMC article.
Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum.
Nogueira SI, Hacker AM, Bellucco FT, Christofolini DM, Kulikowski LD, Cernach MC, Emanuel BS, Melaragno MI. Nogueira SI, et al. Eur J Med Genet. 2008 May-Jun;51(3):226-30. doi: 10.1016/j.ejmg.2008.02.001. Epub 2008 Feb 8. Eur J Med Genet. 2008. PMID: 18342595 Free PMC article.
Interrupted aortic arch type B in A patient with cat eye syndrome.
Belangero SI, Bellucco FT, Cernach MC, Hacker AM, Emanuel BS, Melaragno MI. Belangero SI, et al. Arq Bras Cardiol. 2009 May;92(5):e29-31, e56-8. doi: 10.1590/s0066-782x2009000500016. Arq Bras Cardiol. 2009. PMID: 19629279 Free PMC article.
Deletion 22q11.2: report of a complex meiotic mechanism of origin.
Nogueira SI, Hacker AM, Bellucco FT, Kulikowski LD, Christofolini DM, Cernach MC, Melaragno MI, Emanuel BS. Nogueira SI, et al. Am J Med Genet A. 2007 Aug 1;143A(15):1778-81. doi: 10.1002/ajmg.a.31834. Am J Med Genet A. 2007. PMID: 17603802 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: hacker am. 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.
303 results