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A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.
Costa SS, Fishman V, Pinheiro M, Rodrigueiro A, Sanseverino MT, Zielinsky P, Carvalho CMB, Rosenberg C, Krepischi ACV. Costa SS, et al. Among authors: krepischi acv. Res Sq [Preprint]. 2023 Dec 13:rs.3.rs-3740005. doi: 10.21203/rs.3.rs-3740005/v1. Res Sq. 2023. PMID: 38168413 Free PMC article. Updated. Preprint.
Carcinoma ex-pleomorphic adenoma derived from recurrent pleomorphic adenoma shows important difference by array CGH compared to recurrent pleomorphic adenoma without malignant transformation.
Mariano FV, Giovanetti K, Saccomani LF, Del Negro A, Kowalski LP, Krepischi AC, Altemani A. Mariano FV, et al. Braz J Otorhinolaryngol. 2016 Nov-Dec;82(6):687-694. doi: 10.1016/j.bjorl.2015.12.004. Epub 2016 Feb 24. Braz J Otorhinolaryngol. 2016. PMID: 26971045 Free PMC article.
Somatic copy number alterations in pleomorphic adenoma and recurrent pleomorphic adenoma.
Mariano FV, Fidalgo F, Casarim ALM, Martins AS, Scarini JF, de Lima Souza RA, Egal ES, Kowalski LP, Krepischi ACV, Altemani A. Mariano FV, et al. Among authors: krepischi acv. Oral Surg Oral Med Oral Pathol Oral Radiol. 2020 Jan;129(1):59-64. doi: 10.1016/j.oooo.2019.08.016. Epub 2019 Sep 2. Oral Surg Oral Med Oral Pathol Oral Radiol. 2020. PMID: 31607675
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. Future Oncol. 2016 Jun;12(11):1345-57. doi: 10.2217/fon.16.22. Epub 2016 Mar 29. Future Oncol. 2016. PMID: 27020340
Copy Number Alterations in Hepatoblastoma: Literature Review and a Brazilian Cohort Analysis Highlight New Biological Pathways.
Barros JS, Aguiar TFM, Costa SS, Rivas MP, Cypriano M, Toledo SRC, Novak EM, Odone V, Cristofani LM, Carraro DM, Werneck da Cunha I, Costa CML, Vianna-Morgante AM, Rosenberg C, Krepischi ACV. Barros JS, et al. Among authors: krepischi acv. Front Oncol. 2021 Dec 8;11:741526. doi: 10.3389/fonc.2021.741526. eCollection 2021. Front Oncol. 2021. PMID: 34956867 Free PMC article.
106 results