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2020 1
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Page 1
Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.
Borges JB, Oliveira VF, Dagli-Hernandez C, Ferreira GM, Barbosa TKAA, da Silva Rodrigues Marçal E, Los B, Malaquias VB, Bortolin RH, Freitas RCC, Mori AA, Bastos GM, Gonçalves RM, Araújo DB, Zatz H, Bertolami A, Faludi AA, Bertolami MC, de Moraes Rego Souza AG, França JÍD, Thurow HS, Hirata TDC, Nakaya HTI, Jannes CE, da Costa Pereira A, Silbiger VN, Luchessi AD, Araújo JNG, Nakazone MA, Carmo TS, Souza DRS, Moriel P, Wang JYT, Naslavsky MS, Gorjão R, Pithon-Curi TC, Curi R, Fajardo CM, Wang HL, Garófalo AR, Cerda A, Sampaio MF, Hirata RDC, Hirata MH. Borges JB, et al. Among authors: da silva rodrigues marcal e. Gene. 2023 Jul 30;875:147501. doi: 10.1016/j.gene.2023.147501. Epub 2023 May 20. Gene. 2023. PMID: 37217153
In silico analysis of upstream variants in Brazilian patients with Familial hypercholesterolemia.
de Araújo JNG, de Oliveira VF, Borges JB, Dagli-Hernandez C, Marçal EDSR, Freitas RCC, Bastos GM, Gonçalves RM, Faludi AA, Jannes CE, Pereira ADC, Hirata RDC, Hirata MH, Luchessi AD, Silbiger VN. de Araújo JNG, et al. Among authors: marcal edsr. Gene. 2023 Jan 15;849:146908. doi: 10.1016/j.gene.2022.146908. Epub 2022 Sep 24. Gene. 2023. PMID: 36167182 Free article.
Genomics, epigenomics and pharmacogenomics of familial hypercholesterolemia (FHBGEP): A study protocol.
Borges JB, Oliveira VF, Ferreira GM, Los B, Barbosa TKAA, Marçal EDSR, Dagli-Hernandez C, de Freitas RCC, Bortolin RH, Mori AA, Hirata TDC, Nakaya HTI, Bastos GM, Thurow HS, Gonçalves RM, Araujo DB, Zatz HP, Bertolami A, Faludi AA, Bertolami MC, Sousa AGMR, França JÍD, Jannes CE, Pereira ADC, Nakazone MA, Souza DRS, Carmo TS, Sampaio MF, Gorjão R, Pithon-Curi TC, Moriel P, Silbiger VN, Luchessi AD, de Araújo JNG, Naslavsky MS, Wang JYT, Kronenberger T, Cerda A, Lin-Wang HT, Garofalo AR, Fajardo CM, Hirata RDC, Hirata MH. Borges JB, et al. Among authors: marcal edsr. Res Social Adm Pharm. 2021 Jul;17(7):1347-1355. doi: 10.1016/j.sapharm.2020.10.007. Epub 2020 Oct 29. Res Social Adm Pharm. 2021. PMID: 33129683
Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.
Dagli-Hernandez C, Borges JB, Marçal EDSR, de Freitas RCC, Mori AA, Gonçalves RM, Faludi AA, de Oliveira VF, Ferreira GM, Bastos GM, Zhou Y, Lauschke VM, Cerda A, Hirata MH, Hirata RDC. Dagli-Hernandez C, et al. Among authors: marcal edsr. Pharmaceutics. 2022 Apr 27;14(5):944. doi: 10.3390/pharmaceutics14050944. Pharmaceutics. 2022. PMID: 35631530 Free PMC article.
LDLR and PCSK9 3´UTR variants and their putative effects on microRNA molecular interactions in familial hypercholesterolemia: a computational approach.
de Freitas RCC, Bortolin RH, Borges JB, de Oliveira VF, Dagli-Hernandez C, Marçal EDSR, Bastos GM, Gonçalves RM, Faludi AA, Silbiger VN, Luchessi AD, Hirata RDC, Hirata MH. de Freitas RCC, et al. Among authors: marcal edsr. Mol Biol Rep. 2023 Nov;50(11):9165-9177. doi: 10.1007/s11033-023-08784-9. Epub 2023 Sep 30. Mol Biol Rep. 2023. PMID: 37776414
Late response to rosuvastatin and statin-related myalgia due to SLCO1B1, SLCO1B3, ABCB11, and CYP3A5 variants in a patient with Familial Hypercholesterolemia: a case report.
Dagli-Hernandez C, de Freitas RCC, Marçal EDSR, Gonçalves RM, Faludi AA, Borges JB, Bastos GM, Los B, Mori AA, Bortolin RH, Ferreira GM, de Oliveira VF, Hirata TDC, Hirata MH, Hirata RDC. Dagli-Hernandez C, et al. Among authors: marcal edsr. Ann Transl Med. 2021 Jan;9(1):76. doi: 10.21037/atm-20-5540. Ann Transl Med. 2021. PMID: 33553369 Free PMC article.