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Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.
Freitas ÉL, Gribble SM, Simioni M, Vieira TP, Silva-Grecco RL, Balarin MA, Prigmore E, Krepischi-Santos AC, Rosenberg C, Szuhai K, van Haeringen A, Carter NP, Gil-da-Silva-Lopes VL. Freitas ÉL, et al. Am J Med Genet A. 2011 Nov;155A(11):2754-61. doi: 10.1002/ajmg.a.34168. Epub 2011 Sep 21. Am J Med Genet A. 2011. PMID: 21948691 Free PMC article.
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: freitas el. 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
Preliminary molecular studies on blepharocheilodontic syndrome.
Freitas EL, Martinhago CD, Ramos ES, Murray JC, Gil-da-Silva-Lopes VL. Freitas EL, et al. Am J Med Genet A. 2007 Nov 15;143A(22):2757-9. doi: 10.1002/ajmg.a.32010. Am J Med Genet A. 2007. PMID: 17937431 No abstract available.
Genomic copy number alterations in non-syndromic hearing loss.
Rosenberg C, Freitas ÉL, Uehara DT, Auricchio MTBM, Costa SS, Oiticica J, Silva AG, Krepischi AC, Mingroni-Netto RC. Rosenberg C, et al. Among authors: freitas el. Clin Genet. 2016 Apr;89(4):473-477. doi: 10.1111/cge.12683. Epub 2015 Nov 10. Clin Genet. 2016. PMID: 26456090
35 results