Debora Romeo Bertola

Summary

Publications

  1. ncbi Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation
    Debora Romeo Bertola
    Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of Sao Paulo, 05403 900 Sao Paulo, Brazil
    Am J Med Genet A 130:378-83. 2004
  2. doi Dental evaluation of Kabuki syndrome patients
    Camila Santos Teixeira
    Genetics Unit, Instituto da Criança, University of Sao Paulo, 05403 900 São Paulo SP, Brazil
    Cleft Palate Craniofac J 46:668-73. 2009
  3. doi Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy
    Ana Cristina Victorino Krepischi
    Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil
    Epilepsia 51:2457-60. 2010
  4. ncbi Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene
    Debora Romeo Bertola
    Department of Pediatrics, Instituto da Criança, HC, University of Sao Paulo, Av Dr Eneas Carvalho de Aguiar, 647, Cerqueira Cesar, 05403 900, Sao Paulo, SP, Brazil
    J Hum Genet 52:521-6. 2007
  5. doi Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants
    Carla Sustek D'Angelo
    Human Genome and Stem Cell Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet A 161:479-86. 2013

Collaborators

  • Camila Santos Teixeira
  • Amanda Salem Brasil
  • Carla Sustek D'Angelo
  • Chong Ae Kim
  • Ana Cristina Victorino Krepischi
  • Cláudia Irene Emílio de Castro
  • Monica Castro Varela
  • Charles Marques Lourenço
  • Ilana Kohl
  • Celia Priszkulnik Koiffmann
  • Ana Beatriz Alvarez Perez
  • Peter Lees Pearson
  • Jeroen Knijnenburg
  • Karoly Szuhai
  • Angela Maria Vianna-Morgante
  • Fernando Kok
  • Carla Rosenberg
  • Emilia Bijlsma

Detail Information

Publications5

  1. ncbi Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation
    Debora Romeo Bertola
    Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of Sao Paulo, 05403 900 Sao Paulo, Brazil
    Am J Med Genet A 130:378-83. 2004
    ..Atypical cases of NS should be screened for mutations in the PTPN11 gene and in the case of a positive result, first-degree relatives should also be tested for the specific mutation...
  2. doi Dental evaluation of Kabuki syndrome patients
    Camila Santos Teixeira
    Genetics Unit, Instituto da Criança, University of Sao Paulo, 05403 900 São Paulo SP, Brazil
    Cleft Palate Craniofac J 46:668-73. 2009
    ..Dental findings may be helpful for clinical diagnosis, or they may be an additional finding to substantiate the diagnosis of Kabuki syndrome in children with mild phenotype...
  3. doi Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy
    Ana Cristina Victorino Krepischi
    Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil
    Epilepsia 51:2457-60. 2010
    ..This second region comprises about 3 Mb and contains the candidate gene SLC4A10, providing further support for the potential role of this gene in epilepsy...
  4. ncbi Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene
    Debora Romeo Bertola
    Department of Pediatrics, Instituto da Criança, HC, University of Sao Paulo, Av Dr Eneas Carvalho de Aguiar, 647, Cerqueira Cesar, 05403 900, Sao Paulo, SP, Brazil
    J Hum Genet 52:521-6. 2007
    ..This description emphasizes that a subset of patients with Costello syndrome could harbor mutations in other genes involved in the RAS-MAPK signaling...
  5. doi Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants
    Carla Sustek D'Angelo
    Human Genome and Stem Cell Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet A 161:479-86. 2013
    ..Overall, the CNVs reported here encompassed a candidate gene or region (e.g., SIM1) that has been reported in patients associating obesity and DD and/or intellectual disability (ID) and novel candidate genes and regions...