Costa SS - Search Results

1

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

2

Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys.

Haddad LA, Aguiar MJ, Costa SS, Mingroni-Netto RC, Vianna-Morgante AM, Pena SD. Haddad LA, et al. Among authors: costa ss. Am J Med Genet. 1999 May 28;84(3):198-201. doi: 10.1002/(sici)1096-8628(19990528)84:3<198::aid-ajmg5>3.0.co;2-w. Am J Med Genet. 1999. PMID: 10331590

3

DXS548/FRAXAC1 haplotypes in fragile X chromosomes in the Brazilian population.

Mingroni-Netto RC, Costa SS, Angeli CB, Vianna-Morgante AM. Mingroni-Netto RC, et al. Among authors: costa ss. Am J Med Genet. 1999 May 28;84(3):204-7. Am J Med Genet. 1999. PMID: 10331592

4

Chromosome imbalances in syndromic hearing loss.

Catelani AL, Krepischi AC, Kim CA, Kok F, Otto PA, Auricchio MT, Mazzeu JF, Uehara DT, Costa SS, Knijnenburg J, Tabith A Jr, Vianna-Morgante AM, Mingroni-Netto RC, Rosenberg C. Catelani AL, et al. Among authors: costa ss. Clin Genet. 2009 Nov;76(5):458-64. doi: 10.1111/j.1399-0004.2009.01276.x. Epub 2009 Oct 6. Clin Genet. 2009. PMID: 19807740

5

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.

6

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.

7

PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl.

Fonseca AC, Bonaldi A, Costa SS, Freitas MR, Kok F, Vianna-Morgante AM. Fonseca AC, et al. Among authors: costa ss. Clin Genet. 2013 Feb;83(2):169-74. doi: 10.1111/j.1399-0004.2012.01854.x. Epub 2012 Mar 16. Clin Genet. 2013. PMID: 22320281

8

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

9

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. Mol Syndromol. 2015 Feb;6(1):39-43. doi: 10.1159/000371404. Epub 2015 Jan 22. Mol Syndromol. 2015. PMID: 25852446 Free PMC article.

10

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. 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

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