Lista de obras -

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

artículo científico publicado en 2018

Access to emergency departments for acute events and identification of sickle cell disease in refugees

scientific article published on 11 February 2019

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

artículo científico publicado en 2019

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

artículo científico publicado en 2019

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

artículo científico publicado en 2019

Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases

scientific article published on 07 May 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)

artículo científico publicado en 2011

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

Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.

artículo científico publicado en 2011

Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range ⬇️

artículo científico publicado el 28 de mayo de 2013

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

artículo científico publicado en 2019

Effect of splenectomy on iron balance in patients with β-thalassemia major: a long-term follow-up.

artículo científico publicado en 2013

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

Extramedullary haematopoiesis correlates with genotype and absence of cardiac iron overload in polytransfused adults with thalassaemia

scientific article published on 03 October 2013

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

scientific article published on 01 September 2019

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

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Juvenile erythrocytosis in children after liver transplantation: prevalence, risk factors and outcome

artículo científico publicado en 2020

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

Long-term treatment with deferiprone enhances left ventricular ejection function when compared to deferoxamine in patients with thalassemia major.

artículo científico publicado en 2013

Multiparametric Cardiac Magnetic Resonance Survey in Children With Thalassemia Major: A Multicenter Study.

artículo científico publicado en 2015

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

artículo científico publicado en 2011

Nephrolithiasis in patients exposed to deferasirox and desferioxamine: probably an age-linked event with different effects on some renal parameters ⬇️

artículo científico publicado el 27 de junio de 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 2013

Predicting factors for liver iron overload at the first magnetic resonance in children with thalassaemia major

scientific article published on 26 June 2018

Red blood cell alloimmunisation in transfusion-dependent thalassaemia: a systematic review

artículo científico publicado en 2019

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

Splenectomy for hereditary spherocytosis: complete, partial or not at all?

artículo científico

Subarachnoid haemorrhage and cerebral vasculopathy in a child with sickle cell anaemia.

artículo científico publicado en 2014

White matter volume changes in adult beta-thalassemia: Negligible and unrelated to anemia and cognitive performances

scientific article published on 20 March 2020

Lista de obras de

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

Access to emergency departments for acute events and identification of sickle cell disease in refugees

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

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

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

Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases

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

Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.

Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range ⬇️

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

Effect of splenectomy on iron balance in patients with β-thalassemia major: a long-term follow-up.

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

Extramedullary haematopoiesis correlates with genotype and absence of cardiac iron overload in polytransfused adults with thalassaemia

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

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

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.

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

Juvenile erythrocytosis in children after liver transplantation: prevalence, risk factors and outcome

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

Long-term treatment with deferiprone enhances left ventricular ejection function when compared to deferoxamine in patients with thalassemia major.

Multiparametric Cardiac Magnetic Resonance Survey in Children With Thalassemia Major: A Multicenter Study.

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

Nephrolithiasis in patients exposed to deferasirox and desferioxamine: probably an age-linked event with different effects on some renal parameters ⬇️

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.

Predicting factors for liver iron overload at the first magnetic resonance in children with thalassaemia major

Red blood cell alloimmunisation in transfusion-dependent thalassaemia: a systematic review

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

Splenectomy for hereditary spherocytosis: complete, partial or not at all?

Subarachnoid haemorrhage and cerebral vasculopathy in a child with sickle cell anaemia.

White matter volume changes in adult beta-thalassemia: Negligible and unrelated to anemia and cognitive performances

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