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132 results

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Page 1
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: melaragno mi. 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: melaragno mi. 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.
Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.
Meloni Vde F, Piazzon FB, Soares Mde F, Takeno SS, Christofolini DM, Kulikowski LD, Brunoni D, Melaragno MI. Meloni Vde F, et al. Among authors: melaragno mi. Gene. 2012 Mar 15;496(1):59-62. doi: 10.1016/j.gene.2012.01.007. Epub 2012 Jan 20. Gene. 2012. PMID: 22285927 Free article.
Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement.
Christofolini DM, Meloni VA, Ramos MA, Oliveira MM, de Mello CB, Pellegrino R, Takeno SS, Melaragno MI. Christofolini DM, et al. Among authors: melaragno mi. Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):823-8. doi: 10.1002/ajmg.b.32089. Epub 2012 Aug 22. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22911893
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: melaragno mi. 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: melaragno mi. 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.
Cytogenomic delineation and clinical follow-up of two siblings with an 8.5 Mb 6q24.2-q25.2 deletion inherited from a paternal insertion.
Meloni VA, Guilherme RS, Oliveira MM, Migliavacca M, Takeno SS, Sobreira NL, de Fatima Faria Soares M, de Mello CB, Melaragno MI. Meloni VA, et al. Among authors: melaragno mi. Am J Med Genet A. 2014 Sep;164A(9):2378-84. doi: 10.1002/ajmg.a.36631. Epub 2014 Jun 4. Am J Med Genet A. 2014. PMID: 24898331 Free PMC article.
132 results