Elena Di Pierro

Summary

Affiliation: University of Milan
Country: Italy

Publications

  1. ncbi request reprint Gene symbol: HBMS. Disease: Porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Milan, Italy
    Hum Genet 114:607. 2004
  2. ncbi request reprint Gene symbol: HMBS. Disease: porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Milan, Italy
    Hum Genet 119:364. 2006
  3. ncbi request reprint Gene symbol: HMBS. Disease: porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Milan, Italy
    Hum Genet 119:359. 2006
  4. ncbi request reprint Clinical, biochemical and genetic characteristics of Variegate Porphyria in Italy
    E Di Pierro
    Dipartimento di Medicina Interna, Università degli Studi di Milano Fondazione Ospedale Maggiore Policlinico Mangiagalli e Regina Elena IRCCS Milano, Italy
    Cell Mol Biol (Noisy-le-grand) 55:79-88. 2009
  5. doi request reprint Multiplex ligation-dependent probe amplification: a novel approach for genetic diagnosis of Porphyria
    Elena Di Pierro
    Dipartimento di Medicina Interna, Università degli Studi di Milano Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, Fondazione IRCCS, Milano, Italy
    J Hum Genet 54:479-87. 2009
  6. ncbi request reprint Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine University of Milan, Centro Anemie Congenite Maggiore Policlinico, Mangiagalli and Regina Elena Hospital IRCCS Via F Sforza, 35 20122 Milan, Italy
    Hum Genet 122:417. 2007
  7. ncbi request reprint Gene symbol: CPOX
    Sabrina Ausenda
    University of Milan Maggiore Policlinico Foundation, Internal Medicine, F Sforza, 35, 20122, Milan, Italy
    Hum Genet 121:296. 2007
  8. ncbi request reprint Gene symbol: FECH. Disease: Porphyria, erythropoietic. Accession #Hg0501
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Italy
    Hum Genet 118:776. 2006
  9. ncbi request reprint Gene symbol: HMBS. Disease: porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Milan, Italy
    Hum Genet 119:360. 2006
  10. ncbi request reprint Gene symbol: HMBS. Disease: Porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Maggiore Policlinico Hospital IRCCS, Italy
    Hum Genet 116:543. 2005

Collaborators

Detail Information

Publications26

  1. ncbi request reprint Gene symbol: HBMS. Disease: Porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Milan, Italy
    Hum Genet 114:607. 2004
  2. ncbi request reprint Gene symbol: HMBS. Disease: porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Milan, Italy
    Hum Genet 119:364. 2006
  3. ncbi request reprint Gene symbol: HMBS. Disease: porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Milan, Italy
    Hum Genet 119:359. 2006
  4. ncbi request reprint Clinical, biochemical and genetic characteristics of Variegate Porphyria in Italy
    E Di Pierro
    Dipartimento di Medicina Interna, Università degli Studi di Milano Fondazione Ospedale Maggiore Policlinico Mangiagalli e Regina Elena IRCCS Milano, Italy
    Cell Mol Biol (Noisy-le-grand) 55:79-88. 2009
    ..Normal urinary excretion of PBG and ALA, predicted absence of neurovisceral symptoms. This paper represents the first compilation of data on genotype-phenotype relation in Italian patients with VP...
  5. doi request reprint Multiplex ligation-dependent probe amplification: a novel approach for genetic diagnosis of Porphyria
    Elena Di Pierro
    Dipartimento di Medicina Interna, Università degli Studi di Milano Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, Fondazione IRCCS, Milano, Italy
    J Hum Genet 54:479-87. 2009
    ....
  6. ncbi request reprint Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine University of Milan, Centro Anemie Congenite Maggiore Policlinico, Mangiagalli and Regina Elena Hospital IRCCS Via F Sforza, 35 20122 Milan, Italy
    Hum Genet 122:417. 2007
  7. ncbi request reprint Gene symbol: CPOX
    Sabrina Ausenda
    University of Milan Maggiore Policlinico Foundation, Internal Medicine, F Sforza, 35, 20122, Milan, Italy
    Hum Genet 121:296. 2007
  8. ncbi request reprint Gene symbol: FECH. Disease: Porphyria, erythropoietic. Accession #Hg0501
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Italy
    Hum Genet 118:776. 2006
  9. ncbi request reprint Gene symbol: HMBS. Disease: porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Milan, Italy
    Hum Genet 119:360. 2006
  10. ncbi request reprint Gene symbol: HMBS. Disease: Porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Maggiore Policlinico Hospital IRCCS, Italy
    Hum Genet 116:543. 2005
  11. ncbi request reprint Gene symbol: HMBS. Disease: Porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Maggiore Policlinico Hospital IRCCS, Italy
    Hum Genet 116:537. 2005
  12. ncbi request reprint Gene symbol: HMBS. Disease: Porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Maggiore Policlinico Hospital IRCCS, Italy
    Hum Genet 116:535. 2005
  13. ncbi request reprint Human gene mutations. Gene symbol: FECH. Disease: Porphyria, erythropoietic
    E Di Pierro
    Department of Internal Medicine, Centro Anemie Congenite, University of Milan, Ospedale Maggiore Policlinico IRCCS, Via F Sforza 35, 20122 Milan, Italy
    Hum Genet 114:221. 2004
  14. ncbi request reprint Gene Symbol: FECH. Disease: Porphyria, erythropoietic
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Milan, Italy
    Hum Genet 114:608. 2004
  15. ncbi request reprint Gene Symbol: FECH. Disease: Porphyria, erythropoietic
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Milan, Italy
    Hum Genet 114:609. 2004
  16. ncbi request reprint Gene symbol: HMBS. Disease: porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Milan, Italy
    Hum Genet 115:172. 2004
  17. ncbi request reprint Gene symbol: PPOX. Disease: variegate porphyria
    E Patti
    Department of Internal Medicine, University of Milan, Milan, Italy
    Hum Genet 115:172. 2004
  18. doi request reprint Porphyrias at a glance: diagnosis and treatment
    Maria Domenica Cappellini
    Dipartimento di Medicina Interna, Fondazione IRCCS Ca Granda, Ospedale Maggiore Policlinico, Universita degli Studi di Milano, Via F Sforza 35, 20122, Milan, Italy
    Intern Emerg Med 5:S73-80. 2010
    ..The therapeutic approach should be appropriate regarding specific forms of porphyria and treatment should be started promptly...
  19. ncbi request reprint A large deletion on chromosome 11 in acute intermittent porphyria
    Elena Di Pierro
    Department of Internal Medicine, Maggiore Policlinico, Mangiagalli and Regina Elena, Foundation IRCCS, University of Milan, Italy
    Blood Cells Mol Dis 37:50-4. 2006
    ..Even if the deletions include the entire HMBS and H2AFX genes and 1463 bp of the final portion of DPAGT1 gene, our patients had no other symptoms than AIP...
  20. doi request reprint Seven novel genetic mutations within the 5'UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria
    Valentina Brancaleoni
    Dipartimento di Medicina Interna, Fondazione IRCCS Ca Granda, Ospedale Maggiore Policlinico, Universita degli Studi di Milano, 20122 Milano, Italy
    Blood Cells Mol Dis 49:147-51. 2012
    ....
  21. ncbi request reprint A 10376 bp deletion of FECH gene responsible for erythropoietic protoporphyria
    Elena Di Pierro
    Department of Internal Medicine, University of Milan Maggiore Policlinico, Mangiagalli and Regina Elena Hospital, Foundation IRCCS, Italy
    Blood Cells Mol Dis 40:233-6. 2008
    ....
  22. ncbi request reprint A point mutation affecting an SP1 binding site in the promoter of the ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria
    Elena Di Pierro
    Department of Internal Medicine, Centro Anemie Congenite, Maggiore Policlinico Hospital IRCCS, University of Milan, Milan, Italy
    Exp Hematol 33:584-91. 2005
    ..The weaker allele expression has been controversially associated to the presence of different intragenic polymorphisms...
  23. doi request reprint The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1
    Valeria Fiorentino
    Dipartimento di Scienze Cliniche e di Comunità, Universita degli Studi di Milano, Milano, Italy
    Blood Cells Mol Dis 61:48-53. 2016
    ..Moreover this study confirms that these regulatory regions represent an important molecular target for the pathogenesis of variegate porphyria. ..
  24. doi request reprint Advances in understanding the pathogenesis of congenital erythropoietic porphyria
    Elena Di Pierro
    U O di Medicina Interna, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milano, Italy
    Br J Haematol 173:365-79. 2016
    ..CEP is inherited as autosomal recessive or X-linked trait due to mutations in UROS or GATA1 genes; however an involvement of other causative or modifier genes cannot be ruled out. ..
  25. doi request reprint Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis
    Elena Di Pierro
    Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, U O di Medicina Interna, Milan, Italy
    Eur J Haematol 94:491-7. 2015
    ..Finally, a correlation between phenotype variability and the presence of modifier mutations in loci related to disease-causing gene is described. ..
  26. ncbi request reprint Hematologically important mutations: acute intermittent porphyria
    Maria Domenica Cappellini
    Centro Anemie Congenite, Ospedale Maggiore Policlinico IRCCS, Dipartimento di Medicina Interna, University of Milan, Milan, Italy
    Blood Cells Mol Dis 28:5-12. 2002