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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. Res Sq [Preprint]. 2023 Dec 13:rs.3.rs-3740005. doi: 10.21203/rs.3.rs-3740005/v1. Res Sq. 2023. Update in: Chromosome Res. 2024 Mar 19;32(2):6. doi: 10.1007/s10577-024-09750-2 PMID: 38168413 Free PMC article. Updated. Preprint.
Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome.
Carvalho LML, Branco EV, Sarafian RD, Kobayashi GS, de Araújo FT, Santos Souza L, Moreira DP, Hsia GSP, Bertollo EMG, Buck CB, da Costa SS, Fialho DM, de Vasconcelos FTGR, Brito LA, de Souza Fraga Machado LE, Ramos IC, Pereira LDV, Koiffmann CP, E Passos-Bueno MRDS, Oliveira Mendes TA, Krepischi ACV, Rosenberg C. Carvalho LML, et al. Gene. 2023 Jun 30;871:147424. doi: 10.1016/j.gene.2023.147424. Epub 2023 Apr 11. Gene. 2023. PMID: 37054903
Down-regulation of ANAPC13 and CLTCL1: Early Events in the Progression of Preinvasive Ductal Carcinoma of the Breast.
Sens-Abuázar C, Napolitano E Ferreira E, Osório CA, Krepischi AC, Ricca TI, Castro NP, da Cunha IW, Maciel Mdo S, Rosenberg C, Brentani MM, Soares FA, Rocha RM, Carraro DM. Sens-Abuázar C, et al. Among authors: krepischi ac. Transl Oncol. 2012 Apr;5(2):113-23. doi: 10.1593/tlo.11280. Epub 2012 Apr 1. Transl Oncol. 2012. PMID: 22496928 Free PMC article.
126 results