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Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes.
Moysés-Oliveira M, Di-Battista A, Zamariolli M, Meloni VA, Bragagnolo S, Christofolini DM, Steiner CE, Kosyakova N, Liehr T, Reymond A, Melaragno MI. Moysés-Oliveira M, et al. Among authors: christofolini dm. Eur J Hum Genet. 2019 May;27(5):760-771. doi: 10.1038/s41431-019-0341-5. Epub 2019 Jan 30. Eur J Hum Genet. 2019. PMID: 30700833 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: christofolini dm. 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.
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: christofolini dm. 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: christofolini dm. 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
A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome.
Pacanaro AN, Christofolini DM, Kulikowski LD, Belangero SI, da Silva Bellucco FT, Varela MC, Koiffmann CP, Yoshimoto M, Squire JA, Schiavon AV, Heck B, Melaragno MI. Pacanaro AN, et al. Among authors: christofolini dm. Am J Med Genet A. 2010 Mar;152A(3):753-8. doi: 10.1002/ajmg.a.33308. Am J Med Genet A. 2010. PMID: 20186782
Ring chromosome instability evaluation in six patients with autosomal rings.
Sodré CP, Guilherme RS, Meloni VF, Brunoni D, Juliano Y, Andrade JA, Belangero SI, Christofolini DM, Kulikowski LD, Melaragno MI. Sodré CP, et al. Among authors: christofolini dm. Genet Mol Res. 2010 Jan 26;9(1):134-43. doi: 10.4238/vol9-1gmr707. Genet Mol Res. 2010. PMID: 20198569 Free article.
134 results