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Advances in understanding the pathogenesis of congenital erythropoietic porphyria

British journal of haematology, 2016-05, Vol.173 (3), p.365-379

2016

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Microcytosis in Erythropoietic Protoporphyria

Frontiers in physiology, 2022-03, Vol.13, p.841050-841050

2022

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Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study

Frontiers in physiology, 2021-05, Vol.12, p.684569-684569

2021

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Alternative Pathway Involvement in Protoporphyria Patients Related to Sun Exposure

Frontiers in immunology, 2021-02, Vol.12, p.615620

2021

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Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients

Frontiers in physiology, 2022-07, Vol.13, p.886194-886194

2022

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Associated Effect of SLC40A1 and TMPRSS6 Polymorphisms on Iron Overload

Metabolites, 2022-09, Vol.12 (10), p.919

2022

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ACTIVIN RECEPTOR LIGAND FOR THR TREATMENT OF BETA-THALASSEMIA: a SERENDIPITOUS DISCOVERY

Mediterranean journal of hematology and infectious diseases, 2020-10, Vol.12 (1), p.e2020075

2020

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Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy

EJD. European journal of dermatology, 2020-10, Vol.30 (5), p.532-540

2020

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The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5′ untranslated exon 1

Blood cells, molecules, & diseases, 2016-10, Vol.61, p.48-53

2016

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Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis

European journal of haematology, 2015-06, Vol.94 (6), p.491-497

2015

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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

Blood cells, molecules, & diseases, 2012-10, Vol.49 (3-4), p.147-151

2012

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Multiplex ligation-dependent probe amplification: a novel approach for genetic diagnosis of Porphyria

Journal of human genetics, 2009-08, Vol.54 (8), p.479-487

2009

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Porphyrias at a glance: diagnosis and treatment

Internal and emergency medicine, 2010-10, Vol.5 (Suppl 1), p.73-80

2010

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Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism

Genetics in medicine, 2020-01, Vol.22 (1), p.35-43

2020

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Microcytosis in Erythropoietic Protoporphyria

Blood, 2020-11, Vol.136 (Supplement 1), p.44-44

2020

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Activin Receptor-Ligand Trap for the Treatment of β-thalassemia: A Serendipitous Discovery

Mediterranean journal of hematology and infectious diseases, 2020-11, Vol.12 (1), p.e2020075-e2020075

2020

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RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation

Developmental cell, 2023-10, Vol.58 (20), p.2112-2127.e4

2023

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Digital PCR (dPCR) analysis reveals that the homozygous c.315–48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP)

Molecular genetics and metabolism, 2018-08, Vol.124 (4), p.287-296

2018

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

Blood, 2017-12, Vol.130, p.3474-3474

2017

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Inflammatory involvement into phototoxic reaction in erythropoietic protoporphyria (EPP) patients

Immunologic research, 2019-10, Vol.67 (4-5), p.382-389

2019

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Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP)

Molecular genetics and metabolism, 2018-11, Vol.125 (3), p.295-301

2018

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Associated Effect of ISLC40A1/I and ITMPRSS6/I Polymorphisms on Iron Overload

Metabolites, 2022-09, Vol.12 (10)

2022

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Common fetal hemoglobin variants in Lebanese patients bearing the codon 29 beta gene mutation associated with different thalassemia phenotypes

Annals of hematology, 2019-04, Vol.98 (4), p.833-840

2019

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Corrigendum to “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” [Blood Cells Mol. Dis. 49 (2012) 147–151]

Blood cells, molecules, & diseases, 2016-11, Vol.62, p.67-67

2016

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Use of Next Generation Sequencing Panel to Clarify Undiagnosed Cases of Hereditary Hemolytic Anemias

Blood, 2017-12, Vol.130, p.3480-3480

2017

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Advances in understanding the pathogenesis of congenital erythropoietic porphyria

Microcytosis in Erythropoietic Protoporphyria

Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study

Alternative Pathway Involvement in Protoporphyria Patients Related to Sun Exposure

Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients

Associated Effect of SLC40A1 and TMPRSS6 Polymorphisms on Iron Overload

ACTIVIN RECEPTOR LIGAND FOR THR TREATMENT OF BETA-THALASSEMIA: a SERENDIPITOUS DISCOVERY

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy

The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5′ untranslated exon 1

Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis

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

Multiplex ligation-dependent probe amplification: a novel approach for genetic diagnosis of Porphyria

Porphyrias at a glance: diagnosis and treatment

Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism

Microcytosis in Erythropoietic Protoporphyria

Activin Receptor-Ligand Trap for the Treatment of β-thalassemia: A Serendipitous Discovery

RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation

Digital PCR (dPCR) analysis reveals that the homozygous c.315–48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP)

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

Inflammatory involvement into phototoxic reaction in erythropoietic protoporphyria (EPP) patients

Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP)

Associated Effect of ISLC40A1/I and ITMPRSS6/I Polymorphisms on Iron Overload

Common fetal hemoglobin variants in Lebanese patients bearing the codon 29 beta gene mutation associated with different thalassemia phenotypes

Corrigendum to “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” [Blood Cells Mol. Dis. 49 (2012) 147–151]

Use of Next Generation Sequencing Panel to Clarify Undiagnosed Cases of Hereditary Hemolytic Anemias

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