Bruno Drera

Summary

Publications

  1. pmc Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients
    Bruno Drera
    Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy
    Orphanet J Rare Dis 4:24. 2009
  2. ncbi request reprint Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations
    Bruno Drera
    Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy
    J Dermatol Sci 64:237-40. 2011
  3. pmc Arterial tortuosity syndrome in two Italian paediatric patients
    Marco Ritelli
    Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy
    Orphanet J Rare Dis 4:20. 2009
  4. ncbi request reprint Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome
    Bruno Drera
    Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy
    Am J Med Genet A 143:216-8. 2007

Detail Information

Publications4

  1. pmc Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients
    Bruno Drera
    Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy
    Orphanet J Rare Dis 4:24. 2009
    ..LDS is caused by mutations in the transforming growth factor (TGF) beta-receptor I (TGFBR1) and II (TGFBR2) genes. The aim of this study was the clinical and molecular characterization of two LDS patients...
  2. ncbi request reprint Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations
    Bruno Drera
    Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy
    J Dermatol Sci 64:237-40. 2011
  3. pmc Arterial tortuosity syndrome in two Italian paediatric patients
    Marco Ritelli
    Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy
    Orphanet J Rare Dis 4:20. 2009
    ..So far, 17 SLC2A10 mutations have been reported in 32 families, two of which were Italian with a total of five patients. Here we present the clinical and molecular characterization of two novel Italian paediatric ATS patients...
  4. ncbi request reprint Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome
    Bruno Drera
    Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy
    Am J Med Genet A 143:216-8. 2007