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Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.
Silva AG, Ewald IP, Sapienza M, Pinheiro M, Peixoto A, de Nóbrega AF, Carraro DM, Teixeira MR, Ashton-Prolla P, Achatz MI, Rosenberg C, Krepischi AC. Silva AG, et al. Among authors: de nobrega af. BMC Cancer. 2012 Jun 12;12:237. doi: 10.1186/1471-2407-12-237. BMC Cancer. 2012. PMID: 22691290 Free PMC article.
Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.
Torrezan GT, de Almeida FGDSR, Figueiredo MCP, Barros BDF, de Paula CAA, Valieris R, de Souza JES, Ramalho RF, da Silva FCC, Ferreira EN, de Nóbrega AF, Felicio PS, Achatz MI, de Souza SJ, Palmero EI, Carraro DM. Torrezan GT, et al. Among authors: de nobrega af. Front Genet. 2018 May 7;9:161. doi: 10.3389/fgene.2018.00161. eCollection 2018. Front Genet. 2018. PMID: 29868112 Free PMC article.
Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.
Santiago KM, Castro LP, Neto JPD, de Nóbrega AF, Pinto CAL, Ashton-Prolla P, Pinto E Vairo F, de Medeiros PFV, Ribeiro EM, Ribeiro BFR, do Valle FF, Doriqui MJR, Leite CHB, Rocha RM, Moura LMS, Munford V, Galante PAF, Menck CFM, Rogatto SR, Achatz MI. Santiago KM, et al. Among authors: de nobrega af. J Eur Acad Dermatol Venereol. 2020 Oct;34(10):2392-2401. doi: 10.1111/jdv.16405. Epub 2020 May 21. J Eur Acad Dermatol Venereol. 2020. PMID: 32239545