Freitas É - Search Results

1

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC, Viana DV, Kitajima JPFW, Rocha VM, López RVM, Zheng Y, Freitas É, Monteiro FPM, Valim A, Schlesinger D, Kok F, Olopade OI, Folgueira MAAK. Guindalini RSC, et al. Among authors: freitas e. Sci Rep. 2022 Mar 9;12(1):4190. doi: 10.1038/s41598-022-07383-1. Sci Rep. 2022. PMID: 35264596 Free PMC article.

2

Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment.

Ramos LLP, Monteiro FP, Sampaio LPB, Costa LA, Ribeiro MDO, Freitas EL, Kitajima JP, Kok F. Ramos LLP, et al. Clin Case Rep. 2019 Jul 11;7(8):1582-1584. doi: 10.1002/ccr3.2260. eCollection 2019 Aug. Clin Case Rep. 2019. PMID: 31428396 Free PMC article.

3

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F. Monteiro FP, et al. Among authors: freitas e. Eur J Med Genet. 2020 Jan;63(1):103624. doi: 10.1016/j.ejmg.2019.01.014. Epub 2019 Jan 25. Eur J Med Genet. 2020. PMID: 30690204

4

Genomic monitoring unveil the early detection of the SARS-CoV-2 B.1.351 (beta) variant (20H/501Y.V2) in Brazil.

Slavov SN, Patané JSL, Bezerra RDS, Giovanetti M, Fonseca V, Martins AJ, Viala VL, Rodrigues ES, Santos EV, Barros CRS, Marqueze EC, Santos B, Aburjaile F, Neto RM, Moretti DB, Haddad R, Calado RT, Kitajima JP, Freitas E, Schlesinger D, Junior de Alcantara LC, Elias MC, Sampaio SC, Kashima S, Covas DT. Slavov SN, et al. Among authors: freitas e. J Med Virol. 2021 Dec;93(12):6782-6787. doi: 10.1002/jmv.27190. Epub 2021 Jul 19. J Med Virol. 2021. PMID: 34241897 Free PMC article.

5

Allan-Herndon-Dudley syndrome in a female patient and related mechanisms.

Olivati C, Favilla BP, Freitas EL, Santos B, Melaragno MI, Meloni VA, Piazzon F. Olivati C, et al. Mol Genet Metab Rep. 2022 May 7;31:100879. doi: 10.1016/j.ymgmr.2022.100879. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782622 Free PMC article.

6

Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.

Dantas VG, Freitas EL, Della-Rosa VA, Lezirovitz K, de Moraes AM, Ramos SB, Oiticica J, Alves LU, Pearson PL, Rosenberg C, Mingroni-Netto RC. Dantas VG, et al. Int J Audiol. 2015;54(9):593-8. doi: 10.3109/14992027.2015.1030511. Epub 2015 Apr 30. Int J Audiol. 2015. PMID: 25926005

7

A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate.

Izzo G, Freitas ÉL, Krepischi AC, Pearson PL, Vasques LR, Passos-Bueno MR, Bertola DR, Rosenberg C. Izzo G, et al. Eur J Med Genet. 2013 Apr;56(4):222-5. doi: 10.1016/j.ejmg.2013.01.002. Epub 2013 Feb 8. Eur J Med Genet. 2013. PMID: 23395979 Free article.

8

A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state.

Freitas ÉL, Gribble SM, Simioni M, Vieira TP, Prigmore E, Krepischi AC, Rosenberg C, Pearson PL, Melo DG, Gil-da-Silva-Lopes VL. Freitas ÉL, et al. Eur J Med Genet. 2012 Nov;55(11):660-5. doi: 10.1016/j.ejmg.2012.06.015. Epub 2012 Jul 20. Eur J Med Genet. 2012. PMID: 22820457 Free article.

9

Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss.

Freitas ÉL, Oiticica J, Silva AG, Bittar RS, Rosenberg C, Mingroni-Netto RC. Freitas ÉL, et al. Eur J Med Genet. 2014 Mar;57(4):125-8. doi: 10.1016/j.ejmg.2014.02.006. Epub 2014 Feb 18. Eur J Med Genet. 2014. PMID: 24556497 Free article.

10

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

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