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European Journal of Human Genetics : EJHG|March 31, 2026
Rare solid tumours as indicators of hereditary cancer syndromesBarbara Rivera, Giovana Tardin Torrezan, Carla Roca, et al.
Molecular Genetics & Genomic Medicine|July 19, 2017
Pitfalls in genetic testing: a case of a SNP in primer-annealing region leading to allele dropout in <i>BRCA1</i>Felipe Carneiro Silva, Giovana Tardin Torrezan, Rafael Canfield Brianese, et al.
Ecancermedicalscience|March 4, 2022
Dihydropyrimidine dehydrogenase (DPD) polymorphisms knocking on the doorMauro Daniel Spina Donadio, Dirce Maria Carraro, Giovana Tardin Torrezan, et al.
Familial Cancer|June 20, 2024
Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patientsAnthony Vladimir Campos Segura, Sara Iolanda Oliveira da Silva, Karina Miranda Santiago, et al.
BMC Medical Genetics|July 18, 2012
A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotypeGiovana Tardin Torrezan, Felipe Cavalcanti Carneiro da Silva, Ana Cristina Victorino Krepischi, et al.
Experimental and Molecular Pathology|February 3, 2023
Amplicon-based NGS test for assessing MLH1 promoter methylation and its correlation with BRAF mutation in colorectal cancer patientsSara Iolanda Oliveira da Silva, Tabata Alves Domingos, Bruna Elisa Catin Kupper, et al.
International Journal of Molecular Sciences|November 14, 2023
Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian PatientsBianca Costa Soares de Sá, Luciana Facure Moredo, Giovana Tardin Torrezan, et al.
Orphanet Journal of Rare Diseases|April 9, 2013
Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patientsGiovana Tardin Torrezan, Felipe Cavalcanti Carneiro da Silva, Erika Maria Monteiro Santos, et al.
Clinics (Sao Paulo, Brazil)|January 27, 2021
The mutational repertoire of uterine sarcomas and carcinosarcomas in a Brazilian cohort: A preliminary studyLeonardo Tomiatti da Costa, Laura Gonzalez Dos Anjos, Luciane Tsukamoto Kagohara, et al.
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