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Elena Di Pierro, PhD
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Journal Articles

Microcytosis in Erythropoietic Protoporphyria

Giovanna Graziadei, MD, Lorena Duca, MSc, Francesca Granata, MSc, Giacomo De Luca, MD, Valentina Brancaleoni, MSc, Isabella Nava, MSc, Dario Tavazzi, MSc, Silvia Fustinoni, PhD, Elena Di Pierro, PhD
Journal: Blood
Blood (2020) 136 (Supplement 1): 44.
https://doi.org/10.1182/blood-2020-139285
Published: 2020
Journal Articles

Digital PCR Assay to Assess the Alternative Splicing and Absolute Ferrochelatase Expression

Valentina Brancaleoni, MSc, Francesca Granata, MSc, Silvia Fustinoni, PhD, Giovanna Graziadei, MD, Maria Domenica Cappellini, MD, Elena Di Pierro, PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 3474.
https://doi.org/10.1182/blood.V130.Suppl_1.3474.3474
Published: 2017
Journal Articles

Congenital Erythropoietic Porphyria Due to Co-Inheritance of GATA1 and UROS Gene Mutations

Zeynep Karakas, MD, Chiara Refaldi, Valentina Brancaleoni, Ismail Kurt, MD, Elena Di Pierro, PhD, Maria Domenica Cappellini, MD
Journal: Blood
Blood (2010) 116 (21): 3208.
https://doi.org/10.1182/blood.V116.21.3208.3208
Published: 2010
Journal Articles

Identification of Three Novel Substitutions in the Erythroid Promoter of the HMBS Gene: A New Erythroid Variant of Human Acute Intermittent Porphyria?

Elena Di Pierro, PhD, Valeria Besana, Dr, Valentina Brancaleoni, Dr, Dario Tavazzi, Dr, Maria Domenica Cappellini, MD
Journal: Blood
Blood (2008) 112 (11): 4574.
https://doi.org/10.1182/blood.V112.11.4574.4574
Published: 2008
Journal Articles

Four Novel Mutations in the Ferrochelatase (FECH) Gene in Patients with Erythropoietic Protoporphyria (EPP).

Elena Di Pierro, PhD, Valentina Brancaleoni, PhD, Valeria Besana, PhD, Sabrina Ausenda, PhD, Melanie Care, MSc, Maria Domenica Cappellini, MD
Journal: Blood
Blood (2007) 110 (11): 3688.
https://doi.org/10.1182/blood.V110.11.3688.3688
Published: 2007
Journal Articles

A Novel C to A Substitution in the CCAAT Box of beta Globin Gene.

Chiara Refaldi, PhD, Elena Di Pierro, Phd, Maria C. Mocellini, MD, Maria D. Cappellini, MD
Journal: Blood
Blood (2006) 108 (11): 3810.
https://doi.org/10.1182/blood.V108.11.3810.3810
Published: 2006
Journal Articles

Large Deletion of Chromosome 11 Causes Acute Intermittent Porphyria in an Italian Family.

Elena Di Pierro, PhD, Valeria Besana, BD, Valeria Moriondo, BD, Dario Tavazzi, PhD, Giovanna Casalgrande, PhD, Emilio Rocchi, MD, Maria D. Cappellini, MD
Journal: Blood
Blood (2005) 106 (11): 3543.
https://doi.org/10.1182/blood.V106.11.3543.3543
Published: 2005
Journal Articles

Two Functional Mutations in cis of the Ferrochelatase Gene (FECH) Cause Erythropoietic Protoporphyria (EPP).

Elena Di Pierro, PhD, Valentina Brancaleoni, BD, Valeria Moriondo, BtD, Maria D. Cappellini, MD
Journal: Blood
Blood (2005) 106 (11): 3544.
https://doi.org/10.1182/blood.V106.11.3544.3544
Published: 2005