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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.
Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes.
Kulikowski LD, Bellucco FT, Nogueira SI, Christofolini DM, Smith Mde A, de Mello CB, Brunoni D, Melaragno MI. Kulikowski LD, et al. Among authors: nogueira si. Am J Med Genet A. 2008 Oct 15;146A(20):2663-7. doi: 10.1002/ajmg.a.32510. Am J Med Genet A. 2008. PMID: 18798309
Evaluation of clinical checklists for fragile X syndrome screening in Brazilian intellectually disabled males: proposal for a new screening tool.
Christofolini DM, Abbud EM, Lipay MV, Costa SS, Vianna-Morgante AM, Bellucco FT, Nogueira SI, Kulikowski LD, Brunoni D, Juliano Y, Ramos MA, Melaragno MI. Christofolini DM, et al. Among authors: nogueira si. J Intellect Disabil. 2009 Sep;13(3):239-48. doi: 10.1177/1744629509348429. J Intellect Disabil. 2009. PMID: 19786505
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.