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132 results

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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
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.
Duplication 9p and their implication to phenotype.
Guilherme RS, Meloni VA, Perez AB, Pilla AL, de Ramos MA, Dantas AG, Takeno SS, Kulikowski LD, Melaragno MI. Guilherme RS, et al. Among authors: melaragno mi. BMC Med Genet. 2014 Dec 20;15:142. doi: 10.1186/s12881-014-0142-1. BMC Med Genet. 2014. PMID: 25526829 Free PMC article.
Terminal 18q deletions are stabilized by neotelomeres.
Guilherme RS, Hermetz KE, Varela PT, Perez AB, Meloni VA, Rudd MK, Kulikowski LD, Melaragno MI. Guilherme RS, et al. Among authors: melaragno mi. Mol Cytogenet. 2015 May 13;8:32. doi: 10.1186/s13039-015-0135-6. eCollection 2015. Mol Cytogenet. 2015. PMID: 25969696 Free PMC article.
Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS).
Zamariolli M, Colovati M, Moysés-Oliveira M, Nunes N, Caires Dos Santos L, Alvarez Perez AB, Bragagnolo S, Melaragno MI. Zamariolli M, et al. Among authors: melaragno mi. Mol Genet Genomic Med. 2019 Oct;7(10):e00959. doi: 10.1002/mgg3.959. Epub 2019 Aug 30. Mol Genet Genomic Med. 2019. PMID: 31469246 Free PMC article.
132 results