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Page 1
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.
Mechanisms of ring chromosome formation, ring instability and clinical consequences.
Guilherme RS, Meloni VF, Kim CA, Pellegrino R, Takeno SS, Spinner NB, Conlin LK, Christofolini DM, Kulikowski LD, Melaragno MI. Guilherme RS, et al. Among authors: christofolini dm. BMC Med Genet. 2011 Dec 21;12:171. doi: 10.1186/1471-2350-12-171. BMC Med Genet. 2011. PMID: 22188645 Free PMC article.
Ring chromosome 10: report on two patients and review of the literature.
Guilherme RS, Kim CA, Alonso LG, Honjo RS, Meloni VA, Christofolini DM, Kulikowski LD, Melaragno MI. Guilherme RS, et al. Among authors: christofolini dm. J Appl Genet. 2013 Feb;54(1):35-41. doi: 10.1007/s13353-012-0128-7. Epub 2012 Dec 18. J Appl Genet. 2013. PMID: 23247912 Review.
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
Guilherme RS, Soares KC, Simioni M, Vieira TP, Gil-da-Silva-Lopes VL, Kim CA, Brunoni D, Spinner NB, Conlin LK, Christofolini DM, Kulikowski LD, Steiner CE, Melaragno MI. Guilherme RS, et al. Among authors: christofolini dm. Am J Med Genet A. 2014 Jul;164A(7):1659-65. doi: 10.1002/ajmg.a.36512. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700634 Review.
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.
138 results