ROBERTO MARQUES RIBEIRO

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LIM/46 - Laboratório de Parasitologia Médica, Hospital das Clínicas, Faculdade de Medicina

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Assunto: Pediatrics ×

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  • conferenceObject
    A NEW INSIGHT ON CFTR ALLELE FREQUENCY IN BRAZIL THROUGH NEXT GENERATION SEQUENCING
    (2016) NUNES, Luisa Mesquita; RIBEIRO, Roberto; SABINO, Ester; NIEWIANDONSKI, Vivian D. T.; YAMAMOTO, Guilherme Lopes; SILVA FILHO, Luiz Vicente Ribeiro F. da
  • conferenceObject
    NEXT GENERATION SEQUENCING OF CFTR IN BRAZILIAN CF CHILDREN
    (2015) NUNES, L. M.; RIBEIRO, R.; NIEWIADONSKI, V. D.; NISHIMURA, P. Y.; SABINO, E.; SILVA FILHO, L. R. da
  • article 8 Citação(ões) na Scopus
    A new insight into CFTR allele frequency in Brazil through next generation sequencing
    (2017) NUNES, Luisa M.; RIBEIRO, Roberto; NIEWIADONSKI, Vivian D. T.; SABINO, Ester; YAMAMOTO, Guilherme L.; BERTOLA, Debora R.; GABURO, Nelson; SILVA FILHO, Luiz Vicente R. F. da
    BackgroundAs of 2013, fewer than 20% of patients in the Brazilian CF Registry had two CFTR mutations identified. The aim of this study was to sequence the coding region of the CFTR in Brazilian CF patients and determine the frequency of mutations in this cohort. MethodsPatients with CF and those with suspected atypical CF or CFTR-related disorders were invited to enroll. Total DNA was extracted from blood samples, quantified, and purified. Library preparation was performed using Ion Xpress Plus gDNA and Amplicon Library preparation kits (Life Technologies), as well as sequencing using the Ion Torrent platform (Life Technologies). ResultsA total of 141 patients were enrolled, and 45 mutations were identified. Among 126 CF patients, we identified mutations in 97.2% of alleles. The three most common mutations were F508del, G542X, and 3120+1G->A. Five novel pathogenic mutations were also identified. ConclusionsNext generation sequencing (NGS) allowed the identification of mutations in most CF alleles and confirmed allelic heterogeneity in our population.
  • conferenceObject
    SIX NOVEL CFTR MUTATIONS IDENTIFIED IN BRAZILIAN CF CHILDREN
    (2016) NUNES, Luisa Mesquita; RIBEIRO, Roberto; GABURO, Nelson; YAMAMOTO, Guilherme Lopes; BERTOLA, Debora Romeu; SILVA FILHO, Luiz Vicente Ribeiro F. da