Genomes and Genes

Species

Susana Ferreira

Summary

Affiliation: University of Porto
Country: Portugal

Publications

  1. pmc The Modulatory Effects of the Polymorphisms in GLA 5'-Untranslated Region Upon Gene Expression Are Cell-Type Specific
    Susana Ferreira
    Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal
    JIMD Rep 23:27-34. 2015
  2. pmc Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma
    Susana Ferreira
    Department of Genetics, Faculty of Medicine, University of Porto, Alameda Hernani Monteiro, 4200 319 Porto, Portugal Electronic address
    Clin Chim Acta 447:96-104. 2015
  3. pmc The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies
    Susana Ferreira
    Departamento de Genetica, Faculdade de Medicina, Universidade do Porto, 4200 319 Porto, Portugal Electronic address
    Mol Genet Metab 114:248-58. 2015
  4. ncbi request reprint Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
    Susana Ferreira
    Faculdade de Medicina, Universidade do Porto, Servico de Genetica Medica, Portugal
    Hum Genet 121:649. 2007
  5. ncbi request reprint Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
    Susana Ferreira
    Faculdade de Medicina, Universidade do Porto, Servico de Genetica Medica, Portugal
    Hum Genet 121:649. 2007
  6. ncbi request reprint Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
    Susana Ferreira
    Faculdade de Medicina, Universidade do Porto, Servico de Genetica Medica, and Serviço de Neurologia, Hospital São Bernardo, Setubal, Portugal
    Hum Genet 121:649-50. 2007
  7. ncbi request reprint Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant aretriopathy with subcortical infarcts and leukoencephalopathy
    Susana Ferreira
    Faculdade de Medicina, Universade do Porto, Servico de Genetica Medica, and Hospital Egas Moniz, Lisboa, Portugal
    Hum Genet 121:651-2. 2007

Detail Information

Publications7

  1. pmc The Modulatory Effects of the Polymorphisms in GLA 5'-Untranslated Region Upon Gene Expression Are Cell-Type Specific
    Susana Ferreira
    Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal
    JIMD Rep 23:27-34. 2015
    ....
  2. pmc Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma
    Susana Ferreira
    Department of Genetics, Faculty of Medicine, University of Porto, Alameda Hernani Monteiro, 4200 319 Porto, Portugal Electronic address
    Clin Chim Acta 447:96-104. 2015
    ..The possibility that urinary Gb3 is a specific marker of kidney involvement in FD deserves further study. ..
  3. pmc The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies
    Susana Ferreira
    Departamento de Genetica, Faculdade de Medicina, Universidade do Porto, 4200 319 Porto, Portugal Electronic address
    Mol Genet Metab 114:248-58. 2015
    ..The Cys118 allelic frequency in healthy Portuguese adults (n=696) has been estimated as 0.001, therefore not qualifying for "rare" condition. ..
  4. ncbi request reprint Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
    Susana Ferreira
    Faculdade de Medicina, Universidade do Porto, Servico de Genetica Medica, Portugal
    Hum Genet 121:649. 2007
  5. ncbi request reprint Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
    Susana Ferreira
    Faculdade de Medicina, Universidade do Porto, Servico de Genetica Medica, Portugal
    Hum Genet 121:649. 2007
  6. ncbi request reprint Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
    Susana Ferreira
    Faculdade de Medicina, Universidade do Porto, Servico de Genetica Medica, and Serviço de Neurologia, Hospital São Bernardo, Setubal, Portugal
    Hum Genet 121:649-50. 2007
  7. ncbi request reprint Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant aretriopathy with subcortical infarcts and leukoencephalopathy
    Susana Ferreira
    Faculdade de Medicina, Universade do Porto, Servico de Genetica Medica, and Hospital Egas Moniz, Lisboa, Portugal
    Hum Genet 121:651-2. 2007