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Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia.
Simioni M, Vieira TP, Sgardioli IC, Freitas EL, Rosenberg C, Maurer-Morelli CV, Lopes-Cendes I, Fett-Conte AC, Gil-da-Silva-Lopes VL. Simioni M, et al. Among authors: sgardioli ic. Am J Med Genet A. 2012 Nov;158A(11):2905-10. doi: 10.1002/ajmg.a.35603. Epub 2012 Sep 18. Am J Med Genet A. 2012. PMID: 22991255
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
Monteiro FP, Vieira TP, Sgardioli IC, Molck MC, Damiano AP, Souza J, Monlleó IL, Fontes MI, Fett-Conte AC, Félix TM, Leal GF, Ribeiro EM, Banzato CE, Dantas Cde R, Lopes-Cendes I, Gil-da-Silva-Lopes VL. Monteiro FP, et al. Among authors: sgardioli ic. Eur J Pediatr. 2013 Jul;172(7):927-45. doi: 10.1007/s00431-013-1964-0. Epub 2013 Feb 26. Eur J Pediatr. 2013. PMID: 23440478
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: sgardioli ic. 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.
Genomic imbalances in syndromic congenital heart disease.
Molck MC, Simioni M, Paiva Vieira T, Sgardioli IC, Paoli Monteiro F, Souza J, Fett-Conte AC, Félix TM, Lopes Monlléo I, Gil-da-Silva-Lopes VL. Molck MC, et al. Among authors: sgardioli ic. J Pediatr (Rio J). 2017 Sep-Oct;93(5):497-507. doi: 10.1016/j.jped.2016.11.007. Epub 2017 Mar 21. J Pediatr (Rio J). 2017. PMID: 28336264 Free article.
23 results