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Page 1
Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.
Perrone E, Perez ABA, D'Almeida V, de Mello CB, Jacobina MAA, Loureiro RM, Burlin S, Migliavacca M, do Amaral Virmond L, Graziadio C, Pedroso JL, Mendes EL, Gomy I, de Macena Sobreira NL. Perrone E, et al. Among authors: de mello cb. Am J Med Genet A. 2021 Apr;185(4):1047-1058. doi: 10.1002/ajmg.a.62059. Epub 2020 Dec 31. Am J Med Genet A. 2021. PMID: 33381921
Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14.
Guilherme RS, de Freitas Ayres Meloni V, Sodré CP, Christofolini DM, Pellegrino R, de Mello CB, Conlin LK, Hutchinson AL, Spinner NB, Brunoni D, Kulikowski LD, Melaragno MI. Guilherme RS, et al. Among authors: de mello cb, de freitas ayres meloni v. Am J Med Genet A. 2010 Nov;152A(11):2865-9. doi: 10.1002/ajmg.a.33689. Am J Med Genet A. 2010. PMID: 20979193
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: de mello cb, de fatima faria soares m. 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.
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome in an adolescent with complex chromosomal rearrangement and intellectual disability.
Oliveira MM, Meloni VA, Canonaco RS, Takeno SS, Bortolai A, de Mello CB, de Lima FT, Melaragno MI. Oliveira MM, et al. Among authors: de mello cb, de lima ft. Am J Med Genet A. 2014 Oct;164A(10):2685-8. doi: 10.1002/ajmg.a.36690. Epub 2014 Jul 31. Am J Med Genet A. 2014. PMID: 25081192 No abstract available.
Gomez-López-Hernández syndrome: A case report with clinical and molecular evaluation and literature review.
Perrone E, D'Almeida V, de Macena Sobreira NL, de Mello CB, de Oliveira AC, Burlin S, Soares MFF, Cernach MCSP, Alvarez Perez AB. Perrone E, et al. Among authors: de mello cb, de macena sobreira nl, de oliveira ac. Am J Med Genet A. 2020 Jul;182(7):1761-1766. doi: 10.1002/ajmg.a.61594. Epub 2020 Apr 17. Am J Med Genet A. 2020. PMID: 32302043 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: de mello cb. 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
X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.
Moysés-Oliveira M, Guilherme RS, Meloni VA, Di Battista A, de Mello CB, Bragagnolo S, Moretti-Ferreira D, Kosyakova N, Liehr T, Carvalheira GM, Melaragno MI. Moysés-Oliveira M, et al. Among authors: de mello cb. Am J Med Genet B Neuropsychiatr Genet. 2015 Dec;168(8):669-77. doi: 10.1002/ajmg.b.32355. Epub 2015 Aug 20. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 26290131
28 results