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Genomic imbalances in craniofacial microsomia.
Spineli-Silva S, Sgardioli IC, Dos Santos AP, Bergamini LL, Monlleó IL, Fontes MIB, Félix TM, Ribeiro EM, Xavier AC, Lustosa-Mendes E, Gil-da-Silva-Lopes VL, Vieira TP. Spineli-Silva S, et al. Among authors: dos santos ap. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):970-985. doi: 10.1002/ajmg.c.31857. Epub 2020 Nov 20. Am J Med Genet C Semin Med Genet. 2020. PMID: 33215817 Review.
Atypical copy number abnormalities in 22q11.2 region: report of three cases.
Molck MC, Vieira TP, Sgardioli IC, Simioni M, Dos Santos AP, Souza J, Monteiro FP, Gil-da-Silva-Lopes VL. Molck MC, et al. Among authors: dos santos ap. Eur J Med Genet. 2013 Sep;56(9):515-20. doi: 10.1016/j.ejmg.2013.07.002. Epub 2013 Jul 23. Eur J Med Genet. 2013. PMID: 23886712 Free article.
A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature.
Lustosa-Mendes E, Dos Santos AP, Viguetti-Campos NL, Vieira TP, Gil-da-Silva-Lopes VL. Lustosa-Mendes E, et al. Among authors: dos santos ap. Am J Med Genet A. 2017 Jan;173(1):143-150. doi: 10.1002/ajmg.a.37976. Epub 2016 Sep 15. Am J Med Genet A. 2017. PMID: 27633903 Review.
17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation.
Barros Fontes MI, Dos Santos AP, Rossi Torres F, Lopes-Cendes I, Cendes F, Appenzeller S, Kawasaki de Araujo T, Lopes Monlleó I, Gil-da-Silva-Lopes VL. Barros Fontes MI, et al. Among authors: dos santos ap. Mol Syndromol. 2017 Jan;8(1):36-41. doi: 10.1159/000452753. Epub 2016 Nov 25. Mol Syndromol. 2017. PMID: 28232781 Free PMC article.
A Rare Case of Concomitant Deletions in 15q11.2 and 19p13.3.
Sgardioli IC, Lustosa-Mendes E, Dos Santos AP, Vieira TP, Gil-da-Silva-Lopes VL. Sgardioli IC, et al. Among authors: dos santos ap. Cytogenet Genome Res. 2018;156(2):80-86. doi: 10.1159/000493283. Epub 2018 Oct 9. Cytogenet Genome Res. 2018. PMID: 30296781
272 results