Costa S - Search Results

1

Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients.

Aguiar TFM, Rivas MP, Costa S, Maschietto M, Rodrigues T, Sobral de Barros J, Barbosa AC, Valieris R, Fernandes GR, Bertola DR, Cypriano M, Caminada de Toledo SR, Major A, Tojal I, Apezzato MLP, Carraro DM, Rosenberg C, Lima da Costa CM, Cunha IW, Sarabia SF, Terrada DL, Krepischi ACV. Aguiar TFM, et al. Among authors: costa s. Front Oncol. 2020 May 5;10:556. doi: 10.3389/fonc.2020.00556. eCollection 2020. Front Oncol. 2020. PMID: 32432034 Free PMC article.

2

A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation.

Krepischi AC, Rosenberg C, Costa SS, Crolla JA, Huang S, Vianna-Morgante AM. Krepischi AC, et al. Among authors: costa ss. Am J Med Genet A. 2010 Sep;152A(9):2376-8. doi: 10.1002/ajmg.a.33554. Am J Med Genet A. 2010. PMID: 20683986 No abstract available.

3

Germline DNA copy number variation in familial and early-onset breast cancer.

Krepischi AC, Achatz MI, Santos EM, Costa SS, Lisboa BC, Brentani H, Santos TM, Gonçalves A, Nóbrega AF, Pearson PL, Vianna-Morgante AM, Carraro DM, Brentani RR, Rosenberg C. Krepischi AC, et al. Among authors: costa ss. Breast Cancer Res. 2012 Feb 7;14(1):R24. doi: 10.1186/bcr3109. Breast Cancer Res. 2012. PMID: 22314128 Free PMC article.

4

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.

Canton AP, Costa SS, Rodrigues TC, Bertola DR, Malaquias AC, Correa FA, Arnhold IJ, Rosenberg C, Jorge AA. Canton AP, et al. Among authors: costa ss. Eur J Endocrinol. 2014 Aug;171(2):253-62. doi: 10.1530/EJE-14-0232. Epub 2014 May 30. Eur J Endocrinol. 2014. PMID: 24878679

5

Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14.

Gamba BF, Rosenberg C, Costa S, Richieri-Costa A, Ribeiro-Bicudo LA. Gamba BF, et al. Among authors: costa s. Mol Syndromol. 2015 Feb;6(1):39-43. doi: 10.1159/000371404. Epub 2015 Jan 22. Mol Syndromol. 2015. PMID: 25852446 Free PMC article.

6

Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies.

Gamba BF, Richieri-Costa A, Costa S, Rosenberg C, Ribeiro-Bicudo LA. Gamba BF, et al. Among authors: costa s. Mol Genet Genomics. 2015 Dec;290(6):2213-6. doi: 10.1007/s00438-015-1072-0. Epub 2015 Jun 4. Mol Genet Genomics. 2015. PMID: 26040972

7

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: costa ss. Clin Genet. 2016 Apr;89(4):473-477. doi: 10.1111/cge.12683. Epub 2015 Nov 10. Clin Genet. 2016. PMID: 26456090

8

A Euploid Line of Human Embryonic Stem Cells Derived from a 43,XX,dup(9q),+12,-14,-15,-18,-21 Embryo.

Fonseca SA, Costas RM, Morato-Marques M, Costa S, Alegretti JR, Rosenberg C, da Motta EL, Serafini PC, Pereira LV. Fonseca SA, et al. Among authors: costa s. PLoS One. 2015 Nov 5;10(11):e0140999. doi: 10.1371/journal.pone.0140999. eCollection 2015. PLoS One. 2015. PMID: 26540511 Free PMC article.

9

Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors.

Krepischi ACV, Maschietto M, Ferreira EN, Silva AG, Costa SS, da Cunha IW, Barros BDF, Grundy PE, Rosenberg C, Carraro DM. Krepischi ACV, et al. Among authors: costa ss. Mol Cytogenet. 2016 Feb 24;9:20. doi: 10.1186/s13039-016-0227-y. eCollection 2016. Mol Cytogenet. 2016. PMID: 26913079 Free PMC article.

10

Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting.

Villela D, Costa SS, Vianna-Morgante AM, Krepischi ACV, Rosenberg C. Villela D, et al. Eur J Med Genet. 2017 Dec;60(12):667-674. doi: 10.1016/j.ejmg.2017.08.020. Epub 2017 Sep 4. Eur J Med Genet. 2017. PMID: 28882788

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