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SCAF4-related syndromic intellectual disability.
Carvalho LML, Pinto CF, de Oliveira Scliar M, Otto PA, Krepischi ACV, Rosenberg C. Carvalho LML, et al. Among authors: krepischi acv. Am J Med Genet A. 2023 Feb;191(2):570-574. doi: 10.1002/ajmg.a.63032. Epub 2022 Nov 5. Am J Med Genet A. 2023. PMID: 36333968
Correction: First Transcriptome Analysis of Hepatoblastoma in Brazil: Unraveling the Pivotal Role of Noncoding RNAs and Metabolic Pathways.
Aguiar TFM, Rivas MP, de Andrade Silva EM, Pires SF, Dangoni GD, Macedo TC, Defelicibus A, Barros BDF, Novak E, Cristofani LM, Odone V, Cypriano M, de Toledo SRC, da Cunha IW, da Costa CML, Carraro DM, Tojal I, de Oliveira Mendes TA, Krepischi ACV. Aguiar TFM, et al. Among authors: krepischi acv. Biochem Genet. 2024 Jun 1. doi: 10.1007/s10528-024-10848-9. Online ahead of print. Biochem Genet. 2024. PMID: 38822933 No abstract available.
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Tolezano GC, Bastos GC, da Costa SS, Scliar MO, de Souza CFM, Van Der Linden H Jr, Fernandes WLM, Otto PA, Vianna-Morgante AM, Haddad LA, Honjo RS, Yamamoto GL, Kim CA, Rosenberg C, Jorge AAL, Bertola DR, Krepischi ACV. Tolezano GC, et al. Among authors: krepischi acv. Mol Neurobiol. 2024 Aug;61(8):5230-5247. doi: 10.1007/s12035-023-03894-8. Epub 2024 Jan 5. Mol Neurobiol. 2024. PMID: 38180615
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. Among authors: krepischi acv. Gene. 2023 Jun 30;871:147424. doi: 10.1016/j.gene.2023.147424. Epub 2023 Apr 11. Gene. 2023. PMID: 37054903 Free article.
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
Tolezano GC, Bastos GC, da Costa SS, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, de Lima Jorge AA, Bertola DR, Rosenberg C, Krepischi ACV. Tolezano GC, et al. Among authors: krepischi acv. J Autism Dev Disord. 2024 Mar;54(3):1181-1212. doi: 10.1007/s10803-022-05853-z. Epub 2022 Dec 11. J Autism Dev Disord. 2024. PMID: 36502452 Review.
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. Update in: Chromosome Res. 2024 Mar 19;32(2):6. doi: 10.1007/s10577-024-09750-2 PMID: 38168413 Free PMC article. Updated. Preprint.
111 results