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Number of rare germline CNVs and TP53 mutation types.
Silva AG, Achatz IM, Krepischi AC, Pearson PL, Rosenberg C. Silva AG, et al. Orphanet J Rare Dis. 2012 Dec 21;7:101. doi: 10.1186/1750-1172-7-101. Orphanet J Rare Dis. 2012. PMID: 23259501 Free PMC article.
Role of rare germline copy number variation in melanoma-prone patients.
Fidalgo F, Rodrigues TC, Silva AG, Facure L, de Sá BC, Duprat JP, Achatz MI, Rosenberg C, Carraro DM, Krepischi AC. Fidalgo F, et al. Among authors: silva ag. Future Oncol. 2016 Jun;12(11):1345-57. doi: 10.2217/fon.16.22. Epub 2016 Mar 29. Future Oncol. 2016. PMID: 27020340
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?
Silva AG, Krepischi AC, Torrezan GT, Capelli LP, Carraro DM, D'Angelo CS, Koiffmann CP, Zatz M, Naslavsky MS, Masotti C, Otto PA, Achatz MI, Mills RE, Lee C, Pearson PL, Rosenberg C. Silva AG, et al. Eur J Hum Genet. 2014 Mar;22(3):307-9. doi: 10.1038/ejhg.2013.134. Epub 2013 Jun 19. Eur J Hum Genet. 2014. PMID: 23778870 Free PMC article. No abstract available.
Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.
Silva AG, Ewald IP, Sapienza M, Pinheiro M, Peixoto A, de Nóbrega AF, Carraro DM, Teixeira MR, Ashton-Prolla P, Achatz MI, Rosenberg C, Krepischi AC. Silva AG, et al. BMC Cancer. 2012 Jun 12;12:237. doi: 10.1186/1471-2407-12-237. BMC Cancer. 2012. PMID: 22691290 Free PMC article.
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: silva ag. Clin Genet. 2016 Apr;89(4):473-477. doi: 10.1111/cge.12683. Epub 2015 Nov 10. Clin Genet. 2016. PMID: 26456090
521 results