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106 results

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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.
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
Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma.
Pires SF, Tolezano GC, da Costa SS, Kawahira RSH, Kim CA, Rosenberg C, Teixeira ACB, Bertola DR, Krepischi ACV. Pires SF, et al. Among authors: krepischi acv. Pediatr Blood Cancer. 2020 Nov;67(11):e28376. doi: 10.1002/pbc.28376. Epub 2020 Aug 3. Pediatr Blood Cancer. 2020. PMID: 32748512 No abstract available.
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T, Teixeira A, Scliar MO, Sobral de Barros J, Lemes RB, Souza S, Tolezano G, Santos F, Tojal I, Cypriano M, Caminada de Toledo SR, Valadares E, Borges Pinto R, Pinto Artigalas OA, Caetano de Aguirre Neto J, Novak E, Cristofani LM, Miura Sugayama SM, Odone V, Cunha IW, Lima da Costa CM, Rosenberg C, Krepischi A. Aguiar T, et al. Front Genet. 2022 Apr 12;13:858396. doi: 10.3389/fgene.2022.858396. eCollection 2022. Front Genet. 2022. PMID: 35495172 Free PMC article.
Genetic investigation of syndromic forms of obesity.
Carvalho LML, D'Angelo CS, Villela D, da Costa SS, de Lima Jorge AA, da Silva IT, de Oliveira Scliar M, Chaves LD, Krepischi ACV, Koiffmann CP, Rosenberg C. Carvalho LML, et al. Among authors: krepischi acv. Int J Obes (Lond). 2022 Sep;46(9):1582-1586. doi: 10.1038/s41366-022-01149-5. Epub 2022 May 21. Int J Obes (Lond). 2022. PMID: 35597848
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.
Analysis of the Mutational Landscape of Osteosarcomas Identifies Genes Related to Metastasis and Prognosis and Disrupted Biological Pathways of Immune Response and Bone Development.
Pires SF, Barros JS, Costa SSD, Carmo GBD, Scliar MO, Lengert AVH, Boldrini É, Silva SRMD, Vidal DO, Maschietto M, Krepischi ACV. Pires SF, et al. Among authors: krepischi acv. Int J Mol Sci. 2023 Jun 21;24(13):10463. doi: 10.3390/ijms241310463. Int J Mol Sci. 2023. PMID: 37445641 Free PMC article.
106 results