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A complex chromosome rearrangement involving four chromosomes, nine breakpoints and a cryptic 0.6-Mb deletion in a boy with cerebellar hypoplasia and defects in skull ossification.
Guilherme RS, Cernach MC, Sfakianakis TE, Takeno SS, Nardozza LM, Rossi C, Bhatt SS, Liehr T, Melaragno MI. Guilherme RS, et al. Among authors: cernach mc. Cytogenet Genome Res. 2013;141(4):317-23. doi: 10.1159/000353302. Epub 2013 Jun 29. Cytogenet Genome Res. 2013. PMID: 23817307
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. Among authors: cernach mc. 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.
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. Among authors: cernach mc. 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.
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. Among authors: cernach mc. 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.
Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome.
Porto MP, Vergani N, Carvalho AC, Cernach MC, Brunoni D, Perez AB. Porto MP, et al. Among authors: cernach mc. Genet Mol Biol. 2010 Apr;33(2):232-6. doi: 10.1590/S1415-47572010005000051. Epub 2010 Jun 1. Genet Mol Biol. 2010. PMID: 21637475 Free PMC article.
25 results