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List of works by Aurelio Maggio

2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment

scientific article published on 27 May 2015

A genetic strategy to treat sickle cell anemia by coregulating globin transgene expression and RNA interference

scientific article published on 25 December 2005

A prospective study of hepatocellular carcinoma incidence in thalassemia

scientific article published on 01 January 2006

A region upstream of the human delta-globin gene shows a stage-specific interaction with globin promoters in erythroid cell lines.

scientific article published in September 2001

Allele-specific transcription of fetal genes in primary erythroid cell cultures from Lepore and deltabeta degrees thalassemia patients

scientific article published in November 2005

Analytical evaluation of the Tosoh HLC-723 G7 automated HPLC analyzer for hemoglobin A2 and F determination

scientific article published on 01 February 2005

Celocentesis for early prenatal diagnosis of hemoglobinopathies

scientific article published on 27 April 2020

Cerebrovascular events in sickle cell-beta thalassemia treated with hydroxyurea: a single center prospective survey in adult Italians

scientific article published on 30 August 2013

Chelation treatment in sickle-cell-anaemia: much ado about nothing?

scientific article published on June 28, 2011

Co-heredity of silent CAP + 1570 T>C (HBB:c*96T>C) defect and severe β-thal mutation: a cause of mild β-thalassemia intermedia.

scientific article

Co-inheritance of Hb Hershey [beta70(E14) Ala-->Gly] and Hb La Pommeraie [beta133(H11)Val-->Met] in a Sicilian subject

scientific article published on 5 January 2010

Co-inheritance of the rare β hemoglobin variants Hb Yaounde, Hb Görwihl and Hb City of Hope with other alterations in globin genes: impact in genetic counseling

scientific article published on 22 December 2014

Coinheritance of a Rare Nucleotide Substitution on the β-Globin Gene and Other Known Mutations in the Globin Clusters: Management in Genetic Counseling

scientific article published on 3 June 2016

Deferasirox, deferiprone and desferrioxamine treatment in thalassemia major patients: cardiac iron and function comparison determined by quantitative magnetic resonance imaging.

scientific article

Deferiprone versus deferoxamine in sickle cell disease: results from a 5-year long-term Italian multi-center randomized clinical trial

scientific article published on 9 May 2014

Deferiprone versus deferoxamine in thalassemia intermedia: Results from a 5-year long-term Italian multicenter randomized clinical trial

scientific article published on 03 May 2015

Desensitization to hydroxycarbamide following long-term treatment of thalassaemia intermedia as observed in vivo and in primary erythroid cultures from treated patients.

scientific article published on 19 October 2010

Efficacy of Rapamycin as Inducer of Hb F in Primary Erythroid Cultures from Sickle Cell Disease and β-Thalassemia Patients

scientific article

Embryo-fetal erythroid cell selection from celomic fluid allows earlier prenatal diagnosis of hemoglobinopathies

scientific article published on 29 March 2016

Embryo-fetal erythroid megaloblasts in the human coelomic cavity.

scientific article published in November 2010

Evaluation of IPF counting on Mindray BC-6800 hematology analyzer

scientific article

Evaluation of the efficacy of oral deferiprone in beta-thalassemia major by multislice multiecho T2*.

scientific article published in March 2006

Evidence of alloreactive T lymphocytes in fetal liver: implications for fetal hematopoietic stem cell transplantation

scientific article published on 01 January 2000

External quality assessment of hemoglobin A2 measurement: data from an Italian pilot study with fresh whole blood samples and commercial HPLC systems.

scientific article

Feasibility of DNA diagnosis of haemoglobinopathies on coelocentesis

scientific article published on 08 March 2011

Fetal aneuploidy diagnosed at celocentesis for early prenatal diagnosis of congenital hemoglobinopathies.

scientific article published on 2 January 2018

Glucose 6-phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non-spherocytic haemolytic anaemia.

scientific article published on 18 January 2010

Guideline recommendations for heart complications in thalassemia major

scientific article published on 01 May 2008

HCV clearance among hemophiliacs and beta-thalassemics

scientific article published in April 2007

Hb Marineo [beta70(E14)Ala-->Val]: a silent hemoglobin variant with a mutation within the heme pocket

scientific article published on 01 January 2006

Hb San Cataldo [β144(HC1)Lys→Thr; HBB: C.434A > C]: A New Hemoglobin Variant with Increased Affinity for Oxygen

scientific article published on 2 June 2016

Hb Southern Italy: coexistence of two missence mutations (the Hb Sun Prairie alpha2 130 Ala --> Pro and Hb Caserta alpha2 26 Ala --> Thr) in a single HBA2 gene

scientific article published on 04 August 2008

Hepatocellular carcinoma in patients with thalassaemia syndromes: clinical characteristics and outcome in a long term single centre experience

scientific article published on 28 April 2010

Hepatocellular carcinoma in thalassaemia: an update of the Italian Registry.

scientific article published on 3 July 2014

IL-23R determines susceptibility in Crohn's disease in a Mediterranean area

scientific article published on 01 February 2009

IL28B polymorphisms influence stage of fibrosis and spontaneous or interferon-induced viral clearance in thalassemia patients with hepatitis C virus infection

scientific article

Identification of embryo-fetal cells in celomic fluid using morphological and short-tandem repeats analysis

scientific article published on 27 September 2016

Identification of three new nucleotide substitutions in the β-globin gene: laboratoristic approach and impact on genetic counselling for beta-thalassaemia

article

Improving survival with deferiprone treatment in patients with thalassemia major: a prospective multicenter randomised clinical trial under the auspices of the Italian Society for Thalassemia and Hemoglobinopathies

scientific article published on 23 February 2009

Incidence of Crohn's disease and CARD15 mutation in a small township in Sicily

scientific article published on 08 December 2006

Incidence of haemoglobinopathies in Sicily: the impact of screening and prenatal diagnosis

scientific article published on 27 February 2015

Increased survival and reversion of iron-induced cardiac disease in patients with thalassemia major receiving intensive combined chelation therapy as compared to desferoxamine alone

scientific article published on 17 June 2010

Independent clinical trials

scientific article published in March 2004

Induction of gamma-globin gene transcription by hydroxycarbamide in primary erythroid cell cultures from Lepore patients

scientific article published on 15 April 2008

Influence of myocardial fibrosis and blood oxygenation on heart T2* values in thalassemia patients

scientific article published on 01 April 2009

Intestinal permeability and genetic determinants in patients, first-degree relatives, and controls in a high-incidence area of Crohn's disease in Southern Italy

scientific article published on 01 December 2005

Iron chelation therapy in thalassemia major: a systematic review with meta-analyses of 1520 patients included on randomized clinical trials

scientific article published on 16 August 2011

Iron deficiency does not compromise the diagnosis of high HbA(2) β thalassemia trait

scientific article published on 18 November 2011

Long-term sequential deferiprone-deferoxamine versus deferiprone alone for thalassaemia major patients: a randomized clinical trial

scientific article published on 19 February 2009

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

scientific article published on 28 April 2013

Long-term use of deferiprone significantly enhances left-ventricular ejection function in thalassemia major patients

scientific article published on 24 May 2012

MR imaging of the brain: findings in asymptomatic patients with thalassemia intermedia and sickle cell-thalassemia disease

scientific article published on 01 December 1999

Management of chronic viral hepatitis in patients with thalassemia: recommendations from an international panel.

scientific article published on 15 June 2010

Marked impact of IL28B genotype in the natural clearance of hepatitis C virus in patients with haemoglobinopathies

scientific article published on 25 May 2011

Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major

scientific article published on 14 September 2012

Multicenter validation of the magnetic resonance T2* technique for segmental and global quantification of myocardial iron

scientific article published on 01 July 2009

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

scientific article published on August 2015

Multislice multiecho T2* cardiovascular magnetic resonance for detection of the heterogeneous distribution of myocardial iron overload.

scientific article

Myocardial fibrosis by late gadolinium enhancement cardiac magnetic resonance and hepatitis C virus infection in thalassemia major patients

scientific article published on 18 June 2015

Myocardial scarring by delayed enhancement cardiovascular magnetic resonance in thalassaemia major

scientific article published on 01 June 2009

New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia

scientific article published on 05 January 2016

New analytical tools and epidemiological data for the identification of HbA2 borderline subjects in the screening for beta-thalassemia.

scientific article

Non-transfusion-dependent thalassemia: a complex mix of genetic entities yet to be fully discovered.

scientific article

Nucleated red blood cells and soluble transferrin receptor in thalassemia syndromes: relationship with global and ineffective erythropoiesis

scientific article published in January 2009

Quantification of HBG mRNA in primary erythroid cultures: prediction of the response to hydroxyurea in sickle cell and beta-thalassemia.

scientific article

Quantitative evaluation of oxidative stress status on peripheral blood in beta-thalassaemic patients by means of electron paramagnetic resonance spectroscopy.

scientific article published in October 2005

Rapid detection of six common Mediterranean and three non-Mediterranean alpha-thalassemia point mutations by reverse dot blot analysis

scientific article published on 01 November 2003

Real-life experience with liver iron concentration R2 MRI measurement in patients with hemoglobinopathies: baseline data from LICNET.

scientific article published on 28 January 2016

Regional and global pancreatic T*2 MRI for iron overload assessment in a large cohort of healthy subjects: normal values and correlation with age and gender

scientific article published on 16 November 2010

Reliability of EMA binding test in the diagnosis of hereditary spherocytosis in Italian patients

scientific article published on 11 December 2010

Safe mobilization of CD34+ cells in adults with β-thalassemia and validation of effective globin gene transfer for clinical investigation.

scientific article published on 15 January 2014

Sequential alternating deferiprone and deferoxamine treatment compared to deferiprone monotherapy: main findings and clinical follow-up of a large multicenter randomized clinical trial in -thalassemia major patients

scientific article published on January 2011

Serial echocardiographic left ventricular ejection fraction measurements: a tool for detecting thalassemia major patients at risk of cardiac death

scientific article published on 20 January 2013

Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia

scientific article

Standardized T2* map of a normal human heart to correct T2* segmental artefacts; myocardial iron overload and fibrosis in thalassemia intermedia versus thalassemia major patients and electrocardiogram changes in thalassemia major patients

scientific article published on 01 January 2008

Standardized T2* map of normal human heart in vivo to correct T2* segmental artefacts.

scientific article published in October 2007

Strategy for a multicenter phase I clinical trial to evaluate globin gene transfer in beta-thalassemia

scientific article published on 01 August 2010

The Italian multiregional thalassemia registry: Centers characteristics, services, and patients' population

scientific article

The genetic heterogeneity of β-globin gene defects in Sicily reflects the historic population migrations of the island

scientific article published on 24 February 2011

The role of CARD15 mutations and smoking in the course of Crohn's disease in a Mediterranean area

scientific article published on 01 March 2008

The sea urchin sns5 insulator protects retroviral vectors from chromosomal position effects by maintaining active chromatin structure.

scientific article published on 7 April 2009

The significance of the hemoglobin A(2) value in screening for hemoglobinopathies

scientific article published on 08 July 2009

Treatment with hydroxycarbamide for intermedia thalassaemia: decrease of efficacy in some patients during long-term follow up.

scientific article published in April 2006

Treatment with hydroxyurea and iron chelation therapy in patients with hemoglobinopathies

scientific article published in September 2005

Typing of the immunological system in human embryos by coelocentesis.

scientific article published on 20 August 2007

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