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143 results

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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: migliavacca 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.
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: migliavacca m. 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
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.
Villela D, Mazzonetto PC, Migliavacca MP, Perrone E, Guida G, Milanezi MFG, Jorge AAL, Ribeiro-Bicudo LA, Kok F, Campagnari F, de Rosso-Giuliani L, da Costa SS, Vianna-Morgante AM, Pearson PL, Krepischi ACV, Rosenberg C. Villela D, et al. Among authors: migliavacca mp. Am J Med Genet A. 2021 Aug;185(8):2335-2344. doi: 10.1002/ajmg.a.62237. Epub 2021 May 14. Am J Med Genet A. 2021. PMID: 33988290
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.
Migliavacca MP, Sobreira J, Bermeo D, Gomes M, Alencar D, Sussuchi L, Souza CA, Silva JS, Kroll JE, Burger M, Guarischi-Sousa R, Villela D, Yamamoto GL, Milanezi F, Horigoshi N, Cesar RG, de Carvalho WB, Honjo RS, Bertola DR, Kim CA, de Souza L, Procianoy RS, Silveria RC, Rosenberg C, Giugliani R, Campana GA, Scapulatempo-Neto C, Sobreira N. Migliavacca MP, et al. Am J Med Genet A. 2024 Jun;194(6):e63544. doi: 10.1002/ajmg.a.63544. Epub 2024 Jan 23. Am J Med Genet A. 2024. PMID: 38258498
An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son.
Campos AE, Rosenberg C, Krepischi A, França M, Lopes V, Nakano V, Vertemati T, Cochak M, Migliavacca M, Milanezi F, Sousa AC, Silva J, Vieira L, Monfredini P, Palumbo AC, Fernandes J, Perrone E. Campos AE, et al. Among authors: migliavacca m. Mol Syndromol. 2021 Aug;12(5):312-320. doi: 10.1159/000516323. Epub 2021 Jul 15. Mol Syndromol. 2021. PMID: 34602959 Free PMC article.
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
Krepischi ACV, Villela D, da Costa SS, Mazzonetto PC, Schauren J, Migliavacca MP, Milanezi F, Santos JG, Guida G, Guarischi-Sousa R, Campana G, Kok F, Schlesinger D, Kitajima JP, Campagnari F, Bertola DR, Vianna-Morgante AM, Pearson PL, Rosenberg C. Krepischi ACV, et al. Among authors: migliavacca mp. Sci Rep. 2022 Sep 7;12(1):15184. doi: 10.1038/s41598-022-19274-6. Sci Rep. 2022. PMID: 36071085 Free PMC article.
Case 278.
Scortegagna FA, Pacheco FT, Nunes RH, Serpa A, Migliavacca MP, da Rocha AJ. Scortegagna FA, et al. Radiology. 2020 Feb;294(2):476-477. doi: 10.1148/radiol.2019181239. Radiology. 2020. PMID: 31961782
143 results