List of works - Silverio Perrotta

A 23-month-old girl with chronic 'seborrhoeic' dermatitis, dehydration and failure to thrive

scientific article published on 27 April 2018

A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity

scientific article published on 19 November 2018

A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia

scientific article published on 01 September 2010

Abbreviated breast magnetic resonance imaging (FAST-MRI): A novel approach to breast cancer screening in patients with previous Hodgkin lymphoma

scientific article published on 20 February 2019

Alpha I/65 hereditary elliptocytosis in southern Italy: evidence for an African origin

scientific article published on July 1, 1992

An Educational Study Promoting the Delivery of Transcranial Doppler Ultrasound Screening in Paediatric Sickle Cell Disease: A European Multi-Centre Perspective

scientific article published on 24 December 2019

Ankyrin deficiency in dominant hereditary spherocytosis: report of three cases ⬇️

scientific article published on August 1, 1991

Apparently normal ankyrin content in unsplenectomized hereditary spherocytosis patients with the inactivation of one ankyrin (ANK1) allele ⬇️

scientific article published on May 1, 1997

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

scientific article published on 13 May 2015

Asymptomatic intracranial aneurysms in beta-thalassemia: a three-year follow-up report

scientific article published on 20 January 2020

Auditory cortex hypoperfusion: a metabolic hallmark in Beta Thalassemia

scientific article published in 2021

Blood transfusions and adverse acute events: a retrospective study from 214 transfusion-dependent pediatric patients comparing transfused blood components by apheresis or by whole blood

scientific article published on 01 October 2019

Brain functional impairment in beta-thalassaemia: the cognitive profile in Italian neurologically asymptomatic adult patients in comparison to the reported literature

scientific article published on 20 May 2019

Brain iron content in systemic iron overload: A beta-thalassemia quantitative MRI study

scientific article published on 25 October 2019

CB2 Receptor Stimulation and Dexamethasone Restore the Anti-Inflammatory and Immune-Regulatory Properties of Mesenchymal Stromal Cells of Children with Immune Thrombocytopenia ⬇️

scientific article published on 28 February 2019

CNR2 functional variant (Q63R) influences childhood immune thrombocytopenic purpura.

scientific article

Cardiac Autonomic Regulation in Response to a Mixed Meal Is Impaired in Obese Children and Adolescents: The Role Played by Insulin Resistance

scientific article published on 19 May 2014

Childhood Head and Neck Lymphadenopathy: A Report by a Single Institution (2003-2017)

scientific article published on 01 January 2019

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

scientific article published on 31 July 2019

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

scientific article

Clinical outcome of transfusions with extended red blood cell matching in β-thalassemia patients: A single-center experience

scientific article published on 05 December 2018

Current challenges in the management of patients with sickle cell disease - A report of the Italian experience.

scientific article

Determination of deferasirox plasma concentrations: do gender, physical and genetic differences affect chelation efficacy?

scientific article published on 17 September 2014

Development of interactive algorithm for clinical management of acute events related to sickle cell disease in emergency department.

scientific article published on 23 June 2014

Diagnosis and management of newly diagnosed childhood autoimmune haemolytic anaemia. Recommendations from the Red Cell Study Group of the Paediatric Haemato-Oncology Italian Association

scientific article

Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations

scientific article published on 01 April 2015

Effects of Eltrombopag on In Vitro Macrophage Polarization in Pediatric Immune Thrombocytopenia

scientific article published on 24 December 2020

Effects of deferasirox-deferoxamine on myocardial and liver iron in patients with severe transfusional iron overload

scientific article published on May 2015

Endocrine function and bone disease during long-term chelation therapy with deferasirox in patients with β-thalassemia major

scientific article published on 26 September 2014

Erythrocyte genotyping for transfusion-dependent patients at the Azienda Universitaria Policlinico of Naples

scientific article published on 18 December 2014

Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene

scientific article published on 01 September 2019

From Gardner fibroma diagnosis to constitutional APC mutation detection: a one-way street.

scientific article published on 10 August 2017

Hb Vanvitelli: A new unstable α-globin chain variant causes undiagnosed chronic haemolytic anaemia when co-inherited with deletion - α3.7.

scientific article published on 04 September 2019

HbS/β+ thalassemia: Really a mild disease? A National survey from the AIEOP Sickle Cell Disease Study Group with genotype-phenotype correlation

scientific article published on 12 December 2019

Hearing Loss in Beta-Thalassemia: Systematic Review

scientific article published in 2021

Hereditary hypochromic microcytic anemia associated with loss-of-function DMT1 gene mutations and absence of liver iron overload

scientific article published on 27 November 2017

Hydroxyurea prescription, availability and use for children with sickle cell disease in Italy: Results of a National Multicenter survey.

scientific article published on 4 September 2017

Influence of patient-reported outcomes on the treatment effect of deferasirox film-coated and dispersible tablet formulations in the ECLIPSE trial: A post hoc mediation analysis

scientific article published on 31 January 2019

Intrabone hematopoietic stem cell gene therapy for adult and pediatric patients affected by transfusion-dependent ß-thalassemia

article

Iron chelating properties of Eltrombopag: Investigating its role in thalassemia-induced osteoporosis

scientific article published in PLoS ONE

Iron chelation with deferasirox in adult and pediatric patients with thalassemia major: efficacy and safety during 5 years' follow-up.

scientific article

Iron overload causes osteoporosis in thalassemia major patients through interaction with transient receptor potential vanilloid type 1 (TRPV1) channels

scientific article

Iron overload enhances human mesenchymal stromal cell growth and hampers matrix calcification.

scientific article published on 2 February 2016

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

scientific article

Life-Threatening Drug-Induced Liver Injury in a Patient with β-Thalassemia Major and Severe Iron Overload on Polypharmacy

scientific article published on 01 May 2018

Long-term improvement in cardiac magnetic resonance in β-thalassemia major patients treated with deferasirox extends to patients with abnormal baseline cardiac function

scientific article published on 11 December 2018

Luspatercept improves hemoglobin levels and blood transfusion requirements in a study of patients with β-thalassemia

scientific article published on 07 January 2019

Medullary unidentified bright objects in Neurofibromatosis type 1: a case series.

scientific article published on 28 February 2018

Membrane association of peroxiredoxin-2 in red cells is mediated by the N-terminal cytoplasmic domain of band 3.

scientific article

Membrane cation and anion transport activities in erythrocytes of hereditary spherocytosis: Effects of different membrane protein defects ⬇️

scientific article published on 01 July 1997

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

scientific article

Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.

scientific article published on 19 April 2017

Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.

scientific article

Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.

scientific article

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

scientific article

Neridronate improves bone mineral density and reduces back pain in β-thalassaemia patients with osteoporosis: results from a phase 2, randomized, parallel-arm, open-label study.

scientific article published on 10 May 2012

New film-coated tablet formulation of deferasirox is well tolerated in patients with thalassemia or lower-risk MDS: Results of the randomized, phase II ECLIPSE study.

scientific article published on 31 January 2017

Nineteen-month-old girl with persistent fever

scientific article published on 23 February 2019

No evidence of increased cerebrovascular involvement in adult neurologically-asymptomatic β-Thalassaemia. A multicentre multimodal magnetic resonance study

scientific article published on 05 March 2019

No increased cerebrovascular involvement in adult beta-thalassemia by advanced MRI analyses

scientific article published on 02 May 2019

Organizing national responses for rare blood disorders: the Italian experience with sickle cell disease in childhood.

scientific article

P27Kip1 serine 10 phosphorylation determines its metabolism and interaction with cyclin-dependent kinases

scientific article published in January 2014

Patient-reported outcomes from a randomized phase II study of the deferasirox film-coated tablet in patients with transfusion-dependent anemias

scientific article published on 19 November 2018

Prevalence and risk factors for pulmonary arterial hypertension in a large group of β-thalassemia patients using right heart catheterization: a Webthal study.

scientific article published on 30 September 2013

Rare frequencey of point mutations for codon 12, 13 and 61 of ras gene in italian neuroblastoma.

scientific article

Re: Improved T2* assessment in liver iron overload by magnetic resonance imaging.

scientific article published on 19 August 2009

Recombinant erythropoietin vs. blood transfusion care in infants with hereditary spherocytosis: a retrospective cohort study of A.I.E.O.P. patients (Associazione Italiana Emato-Oncologia Pediatrica).

scientific article

Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2

scientific article published on 21 January 2019

Resveratrol mimics insulin activity in the adipogenic commitment of human bone marrow mesenchymal stromal cells

scientific article

Risk factors for heart disease in transfusion-dependent thalassemia: serum ferritin revisited

scientific article published on 12 June 2018

Rituximab (anti-CD20 monoclonal antibody) in children with chronic refractory symptomatic immune thrombocytopenic purpura: efficacy and safety of treatment

scientific article

Rituximab for the treatment of refractory autoimmune hemolytic anemia in children

scientific article (publication date: 15 May 2003)

Second-line therapy in paediatric warm autoimmune haemolytic anaemia. Guidelines from the Associazione Italiana Onco-Ematologia Pediatrica (AIEOP)

scientific article published on 13 April 2018

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

scientific article published on 22 March 2018

Serum Hepcidin and Iron Absorption in Paediatric Inflammatory Bowel Disease.

scientific article published on 04 January 2016

Subclinical myocardial dysfunction and cardiac autonomic dysregulation are closely associated in obese children and adolescents: the potential role of insulin resistance.

scientific article published on 23 April 2015

The Endocannabinoid/Endovanilloid System in Bone: From Osteoporosis to Osteosarcoma

scientific article published on 18 April 2019

The HIF2A gene in familial erythrocytosis

scientific article published in May 2008

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

scientific article

Time trends of cancer incidence in childhood in Campania region: 25 years of observation

scientific article published on 06 September 2016

Treatment with short-term, high-dose cyclosporin A in children with refractory chronic idiopathic thrombocytopenic purpura

scientific article

Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus.

scientific article

Tyrosine kinase inhibitors and mesenchymal stromal cells: effects on self-renewal, commitment and functions

scientific article

Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.

scientific article

Variable clinical presentations in a family with neurohypophysial diabetes insipidus

scientific article published on 01 December 2011

Very early onset of autoimmune thyroiditis in a toddler with severe hypothyroidism presentation: a case report.

scientific article published on 18 June 2016

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.

scientific article published on 12 July 2018

Winners' Cup: a national football tournament brings together adolescent patients with cancer from all over Italy

scientific article published on 26 June 2017

p57(Kip2) and cancer: time for a critical appraisal.

scientific article

p57Kip2 is a downstream effector of BCR-ABL kinase inhibitors in chronic myelogenous leukemia cells.

scientific article published on 15 October 2010

List of works by Silverio Perrotta

A 23-month-old girl with chronic 'seborrhoeic' dermatitis, dehydration and failure to thrive

A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity

A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia

Abbreviated breast magnetic resonance imaging (FAST-MRI): A novel approach to breast cancer screening in patients with previous Hodgkin lymphoma

Alpha I/65 hereditary elliptocytosis in southern Italy: evidence for an African origin

An Educational Study Promoting the Delivery of Transcranial Doppler Ultrasound Screening in Paediatric Sickle Cell Disease: A European Multi-Centre Perspective

Ankyrin deficiency in dominant hereditary spherocytosis: report of three cases ⬇️

Apparently normal ankyrin content in unsplenectomized hereditary spherocytosis patients with the inactivation of one ankyrin (ANK1) allele ⬇️

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

Asymptomatic intracranial aneurysms in beta-thalassemia: a three-year follow-up report

Auditory cortex hypoperfusion: a metabolic hallmark in Beta Thalassemia

Blood transfusions and adverse acute events: a retrospective study from 214 transfusion-dependent pediatric patients comparing transfused blood components by apheresis or by whole blood

Brain functional impairment in beta-thalassaemia: the cognitive profile in Italian neurologically asymptomatic adult patients in comparison to the reported literature

Brain iron content in systemic iron overload: A beta-thalassemia quantitative MRI study

CB2 Receptor Stimulation and Dexamethasone Restore the Anti-Inflammatory and Immune-Regulatory Properties of Mesenchymal Stromal Cells of Children with Immune Thrombocytopenia ⬇️

CNR2 functional variant (Q63R) influences childhood immune thrombocytopenic purpura.

Cardiac Autonomic Regulation in Response to a Mixed Meal Is Impaired in Obese Children and Adolescents: The Role Played by Insulin Resistance

Childhood Head and Neck Lymphadenopathy: A Report by a Single Institution (2003-2017)

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

Clinical outcome of transfusions with extended red blood cell matching in β-thalassemia patients: A single-center experience

Current challenges in the management of patients with sickle cell disease - A report of the Italian experience.

Determination of deferasirox plasma concentrations: do gender, physical and genetic differences affect chelation efficacy?

Development of interactive algorithm for clinical management of acute events related to sickle cell disease in emergency department.

Diagnosis and management of newly diagnosed childhood autoimmune haemolytic anaemia. Recommendations from the Red Cell Study Group of the Paediatric Haemato-Oncology Italian Association

Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations

Effects of Eltrombopag on In Vitro Macrophage Polarization in Pediatric Immune Thrombocytopenia

Effects of deferasirox-deferoxamine on myocardial and liver iron in patients with severe transfusional iron overload

Endocrine function and bone disease during long-term chelation therapy with deferasirox in patients with β-thalassemia major

Erythrocyte genotyping for transfusion-dependent patients at the Azienda Universitaria Policlinico of Naples

Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene

From Gardner fibroma diagnosis to constitutional APC mutation detection: a one-way street.

Hb Vanvitelli: A new unstable α-globin chain variant causes undiagnosed chronic haemolytic anaemia when co-inherited with deletion - α3.7.

HbS/β+ thalassemia: Really a mild disease? A National survey from the AIEOP Sickle Cell Disease Study Group with genotype-phenotype correlation

Hearing Loss in Beta-Thalassemia: Systematic Review

Hereditary hypochromic microcytic anemia associated with loss-of-function DMT1 gene mutations and absence of liver iron overload

Hydroxyurea prescription, availability and use for children with sickle cell disease in Italy: Results of a National Multicenter survey.

Influence of patient-reported outcomes on the treatment effect of deferasirox film-coated and dispersible tablet formulations in the ECLIPSE trial: A post hoc mediation analysis

Intrabone hematopoietic stem cell gene therapy for adult and pediatric patients affected by transfusion-dependent ß-thalassemia

Iron chelating properties of Eltrombopag: Investigating its role in thalassemia-induced osteoporosis

Iron chelation with deferasirox in adult and pediatric patients with thalassemia major: efficacy and safety during 5 years' follow-up.

Iron overload causes osteoporosis in thalassemia major patients through interaction with transient receptor potential vanilloid type 1 (TRPV1) channels

Iron overload enhances human mesenchymal stromal cell growth and hampers matrix calcification.

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

Life-Threatening Drug-Induced Liver Injury in a Patient with β-Thalassemia Major and Severe Iron Overload on Polypharmacy

Long-term improvement in cardiac magnetic resonance in β-thalassemia major patients treated with deferasirox extends to patients with abnormal baseline cardiac function

Luspatercept improves hemoglobin levels and blood transfusion requirements in a study of patients with β-thalassemia

Medullary unidentified bright objects in Neurofibromatosis type 1: a case series.

Membrane association of peroxiredoxin-2 in red cells is mediated by the N-terminal cytoplasmic domain of band 3.

Membrane cation and anion transport activities in erythrocytes of hereditary spherocytosis: Effects of different membrane protein defects ⬇️

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.

Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.

Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

Neridronate improves bone mineral density and reduces back pain in β-thalassaemia patients with osteoporosis: results from a phase 2, randomized, parallel-arm, open-label study.

New film-coated tablet formulation of deferasirox is well tolerated in patients with thalassemia or lower-risk MDS: Results of the randomized, phase II ECLIPSE study.

Nineteen-month-old girl with persistent fever

No evidence of increased cerebrovascular involvement in adult neurologically-asymptomatic β-Thalassaemia. A multicentre multimodal magnetic resonance study

No increased cerebrovascular involvement in adult beta-thalassemia by advanced MRI analyses

Organizing national responses for rare blood disorders: the Italian experience with sickle cell disease in childhood.

P27Kip1 serine 10 phosphorylation determines its metabolism and interaction with cyclin-dependent kinases

Patient-reported outcomes from a randomized phase II study of the deferasirox film-coated tablet in patients with transfusion-dependent anemias

Prevalence and risk factors for pulmonary arterial hypertension in a large group of β-thalassemia patients using right heart catheterization: a Webthal study.

Rare frequencey of point mutations for codon 12, 13 and 61 of ras gene in italian neuroblastoma.

Re: Improved T2* assessment in liver iron overload by magnetic resonance imaging.

Recombinant erythropoietin vs. blood transfusion care in infants with hereditary spherocytosis: a retrospective cohort study of A.I.E.O.P. patients (Associazione Italiana Emato-Oncologia Pediatrica).

Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2

Resveratrol mimics insulin activity in the adipogenic commitment of human bone marrow mesenchymal stromal cells

Risk factors for heart disease in transfusion-dependent thalassemia: serum ferritin revisited

Rituximab (anti-CD20 monoclonal antibody) in children with chronic refractory symptomatic immune thrombocytopenic purpura: efficacy and safety of treatment

Rituximab for the treatment of refractory autoimmune hemolytic anemia in children

Second-line therapy in paediatric warm autoimmune haemolytic anaemia. Guidelines from the Associazione Italiana Onco-Ematologia Pediatrica (AIEOP)

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

Serum Hepcidin and Iron Absorption in Paediatric Inflammatory Bowel Disease.

Subclinical myocardial dysfunction and cardiac autonomic dysregulation are closely associated in obese children and adolescents: the potential role of insulin resistance.

The Endocannabinoid/Endovanilloid System in Bone: From Osteoporosis to Osteosarcoma

The HIF2A gene in familial erythrocytosis

Hb Vanvitelli: A new unstable α-globin chain variant causes undiagnosed chronic haemolytic anaemia when co-inherited with deletion - α3.7.