Felipe Cc da Silva

Summary

Publications

  1. pmc Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients
    Giovana Tardin Torrezan
    Laboratory of Genomics and Molecular Biology, A C Camargo Hospital, Sao Paulo, SP, Brazil
    Orphanet J Rare Dis 8:54. 2013
  2. pmc 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 phenotype
    Giovana Tardin Torrezan
    CIPE International Center of Research and Training A, C, Camargo Hospital, Rua Taguá, Sao Paulo, Brazil
    BMC Med Genet 13:55. 2012
  3. ncbi Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry
    Felipe Carneiro da Silva
    Research Center of the AC Camargo Hospital, Fundacao Antonio Prudente, Rua Taguá No 440, São Paulo 01508 010, Brazil
    Fam Cancer 9:563-70. 2010
  4. pmc Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report
    Giovana T Torrezan
    International Center of Research and Training CIPE, A, C, Camargo Hospital, Sao Paulo, SP, Brazil
    BMC Med Genet 12:128. 2011

Collaborators

  • Giovana Tardin Torrezan
  • Benedito Mauro Rossi
  • Dirce Maria Carraro
  • Ana Cristina Victorino Krepischi
  • Giovana T Torrezan
  • Maria Isabel Waddington Achatz
  • Samuel Aguiar
  • Erika Maria Monteiro Santos
  • Erika Maria Monteiro dos Santos
  • Dirce M Carraro
  • Benedito M Rossi
  • Érika M M Santos
  • Ana C V Krepischi
  • Fábio de O Ferreira

Detail Information

Publications4

  1. pmc Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients
    Giovana Tardin Torrezan
    Laboratory of Genomics and Molecular Biology, A C Camargo Hospital, Sao Paulo, SP, Brazil
    Orphanet J Rare Dis 8:54. 2013
    ..The spectrum of mutations as well as the genotype-phenotype correlations in polyposis syndromes present clinical impact and can be population specific, making important to obtain genetic and clinical data from different populations...
  2. pmc 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 phenotype
    Giovana Tardin Torrezan
    CIPE International Center of Research and Training A, C, Camargo Hospital, Rua Taguá, Sao Paulo, Brazil
    BMC Med Genet 13:55. 2012
    ..Large deletions in APC are a common cause of FAP; despite the existence of a variety of gene dosage detection methodologies, most are labor intensive and time and resource consuming...
  3. ncbi Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry
    Felipe Carneiro da Silva
    Research Center of the AC Camargo Hospital, Fundacao Antonio Prudente, Rua Taguá No 440, São Paulo 01508 010, Brazil
    Fam Cancer 9:563-70. 2010
    ....
  4. pmc Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report
    Giovana T Torrezan
    International Center of Research and Training CIPE, A, C, Camargo Hospital, Sao Paulo, SP, Brazil
    BMC Med Genet 12:128. 2011
    ..Most MUTYH pathogenic variants are missense mutations, and until recently no gross genomic deletions had been described...