Renzo Galanello
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Renzo Galanello's Degrees
- Bachelors Biotechnology University of Milan
- Masters Molecular Biology University of Milan
- PhD Molecular Medicine University of Milan
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(Suggest an Edit or Addition)Renzo Galanello's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Beta-thalassemia (2010) (1477)
- A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia. (2006) (658)
- Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia (2008) (548)
- Randomized controlled trial of deferiprone or deferoxamine in beta-thalassemia major patients with asymptomatic myocardial siderosis. (2006) (464)
- A Randomized, Placebo-Controlled, Double-Blind Trial of the Effect of Combined Therapy With Deferoxamine and Deferiprone on Myocardial Iron in Thalassemia Major Using Cardiovascular Magnetic Resonance (2007) (452)
- On T2* Magnetic Resonance and Cardiac Iron (2011) (393)
- Seventy-five genetic loci influencing the human red blood cell (2012) (357)
- Liver iron concentrations and urinary hepcidin in beta-thalassemia. (2007) (342)
- Safety and effectiveness of long-term therapy with the oral iron chelator deferiprone. (2003) (313)
- Cardiovascular function and treatment in β-thalassemia major: a consensus statement from the American Heart Association. (2013) (285)
- Randomized phase II trial of deferasirox (Exjade, ICL670), a once-daily, orally-administered iron chelator, in comparison to deferoxamine in thalassemia patients with transfusional iron overload. (2006) (271)
- Relative response of patients with myelodysplastic syndromes and other transfusion-dependent anaemias to deferasirox (ICL670): a 1-yr prospective study (2007) (256)
- Combined chelation therapy in thalassemia major for the treatment of severe myocardial siderosis with left ventricular dysfunction (2008) (235)
- The safety and effectiveness of deferiprone in a large‐scale, 3‐year study in Italian patients (2002) (207)
- Healing of broken human chromosomes by the addition of telomeric repeats. (1994) (201)
- Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders (2008) (189)
- A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron (2008) (177)
- Myocardial iron loading in patients with thalassemia major on deferoxamine chelation. (2006) (173)
- Safety, Tolerability, and Pharmacokinetics of ICL670, a New Orally Active Iron‐Chelating Agent in Patients with Transfusion‐Dependent Iron Overload Due to β‐Thalassemia (2003) (168)
- The role of haemoglobin A2 testing in the diagnosis of thalassaemias and related haemoglobinopathies (2008) (162)
- Stimulation of F-cell production in patients with sickle-cell anemia treated with cytarabine or hydroxyurea. (1985) (157)
- Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach (2011) (150)
- Lack of progressive hepatic fibrosis during long-term therapy with deferiprone in subjects with transfusion-dependent beta-thalassemia. (2002) (147)
- International reproducibility of single breathhold T2* MR for cardiac and liver iron assessment among five thalassemia centers (2010) (146)
- Phase II clinical evaluation of deferasirox, a once-daily oral chelating agent, in pediatric patients with beta-thalassemia major. (2006) (136)
- Screening for thalassemia: a model of success. (2002) (133)
- Amelioration of Sardinian beta0 thalassemia by genetic modifiers. (2009) (132)
- Efficacy and safety of sildenafil in the treatment of severe pulmonary hypertension in patients with hemoglobinopathies. (2005) (132)
- Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. (2009) (132)
- In vitro mass production of human erythroid cells from the blood of normal donors and of thalassemic patients. (2002) (127)
- Relationship between transfusion regimen and suppression of erythropoiesis in β‐thalassaemia major (1995) (116)
- Deferasirox reduces iron overload significantly in nontransfusion-dependent thalassemia: 1-year results from a prospective, randomized, double-blind, placebo-controlled study. (2012) (114)
- A pilot trial of deferiprone for neurodegeneration with brain iron accumulation (2011) (111)
- Relationship between Genotype and Phenotype: Thalassemia Intermedia a (1998) (107)
- Efficacy and safety of deferasirox doses of >30 mg/kg per d in patients with transfusion-dependent anaemia and iron overload (2009) (107)
- KLF1 gene mutations cause borderline HbA(2). (2011) (104)
- Beta-thalassemia: from genotype to phenotype (2011) (103)
- Pregnancy and β-thalassemia: an Italian multicenter experience (2010) (99)
- Onset of cardiac iron loading in pediatric patients with thalassemia major (2008) (97)
- Prevention of Thalassaemias and Other Haemoglobin Disorders (2013) (97)
- Combined therapy with deferiprone and desferrioxamine in thalassemia major. (2005) (96)
- Performance characteristics and clinical utility of an enzymatic method for the measurement of glycated albumin in plasma. (2007) (95)
- BEST PRACTICE RECOMMENDATIONS (2012) (90)
- Alpha-thalassemia (2011) (88)
- A family with segregating triplicated alpha globin loci and beta thalassemia. (1983) (87)
- Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin (2011) (86)
- Safety, tolerability, and pharmacokinetics of ICL670, a new orally active iron-chelating agent in patients with transfusion-dependent iron overload due to beta-thalassemia. (2003) (80)
- Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area? (1982) (79)
- Combined iron chelation therapy (2010) (76)
- A prospective randomized controlled trial on the safety and efficacy of alternating deferoxamine and deferiprone in the treatment of iron overload in patients with thalassemia. (2006) (76)
- H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers. (2002) (76)
- Efficacy and safety of deferiprone for the treatment of pantothenate kinase-associated neurodegeneration (PKAN) and neurodegeneration with brain iron accumulation (NBIA): results from a four years follow-up. (2014) (76)
- Deferiprone in the treatment of transfusion-dependent thalassemia: a review and perspective (2007) (76)
- Hb F Production in Stressed Erythropoiesis: Observations and Kinetic Modelsa a (1985) (75)
- EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies (2014) (75)
- Second international round robin for the quantification of serum non-transferrin-bound iron and labile plasma iron in patients with iron-overload disorders (2016) (74)
- Control of beta-thalassaemia by carrier screening, genetic counselling and prenatal diagnosis: the Sardinian experience. (1996) (74)
- Molecular analysis of beta zero-thalassemia intermedia in Sardinia. (1989) (73)
- The interaction of α thalassaemia with heterozygous β thalassaemia (1982) (72)
- Deferasirox effectively reduces iron overload in non-transfusion-dependent thalassemia (NTDT) patients: 1-year extension results from the THALASSA study (2013) (68)
- Molecular Diagnosis and Carrier Screening for β Thalassemia (1997) (68)
- Cholelithiasis and Gilbert's syndrome in homozygous β‐thalassaemia (2001) (68)
- 8 Prenatal diagnosis and screening of the haemoglobinopathies (1998) (68)
- Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion (2012) (65)
- Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families. (1998) (65)
- Genotype of subjects with borderline hemoglobin A2 levels: Implication for, β‐thalassemia carrier screening (1994) (64)
- Deferiprone Chelation Therapy for Thalassemia Major (2009) (64)
- Phenotypic effect of heterozygous alpha and beta 0-thalassemia interaction. (1983) (64)
- Reliable Detection of β-Thalassemia and G6PD Mutations by a DNA Microarray (2002) (63)
- Genotype-phenotype correlations in -thalassemias (1994) (63)
- GENOME-WIDE ASSOCIATION ANALYSES BASED ON WHOLE-GENOME SEQUENCING IN SARDINIA PROVIDE INSIGHTS INTO REGULATION OF HEMOGLOBIN LEVELS (2015) (61)
- Serum erythropoietin and erythropoiesis in high- and low-fetal hemoglobin beta-thalassemia intermedia patients. (1994) (60)
- Hyperbilirubinaemia in heterozygous β‐thalassaemia is related to co‐inherited Gilbert's syndrome (1997) (60)
- The prevention of thalassemia in Sardinia. (1989) (59)
- Thalassemia minor, the Gilbert mutation, and the risk of gallstones. (2003) (58)
- Prevention of homozygous beta-thalassemia by carrier screening and prenatal diagnosis in Sardinia. (1981) (58)
- The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population. (1987) (57)
- No evidence of cardiac iron in 20 never- or minimally-transfused patients with thalassemia intermedia (2008) (56)
- Thalassaemia types and their incidence in Sardinia. (1978) (56)
- A genetic score for the prediction of beta-thalassemia severity (2015) (52)
- Therapeutic options for patients with severe beta-thalassemia: the need for globin gene therapy. (2006) (52)
- Increased survival and reversion of iron-induced cardiac disease in patients with thalassemia major receiving intensive combined chelation therapy as compared to desferoxamine alone. (2010) (52)
- Clinical experience of management of thalassemia: the Sardinian experience. (1996) (49)
- A phase 2 study of the safety, tolerability, and pharmacodynamics of FBS0701, a novel oral iron chelator, in transfusional iron overload. (2012) (48)
- Renal aspects of thalassaemia a changing paradigm (2012) (47)
- Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia. (2001) (46)
- Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia (2009) (46)
- Osteoporosis in β‐Thalassemia: Clinical and Genetic Aspects (2005) (46)
- Delineation of the molecular basis of delta- and normal HbA2 beta- thalassemia (1988) (46)
- New analytical tools and epidemiological data for the identification of HbA2 borderline subjects in the screening for beta-thalassemia. (2008) (44)
- Multiple mutations produce delta beta 0 thalassemia in Sardinia. (1984) (44)
- Effect of Food, Type of Food, and Time of Food Intake on Deferasirox Bioavailability: Recommendations for an Optimal Deferasirox Administration Regimen (2008) (43)
- Recent advances in β-thalassemias (2011) (43)
- Mechanism of Hb F stimulation by S-stage compounds. In vitro studies with bone marrow cells exposed to 5-azacytidine, Ara-C, or hydroxyurea. (1988) (42)
- Liver iron concentrations and urinary hepcidin in β-thalassemia (2007) (42)
- Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes (2007) (42)
- Co-inherited Gilbert's syndrome: a factor determining hyperbilirubinemia in homozygous beta-thalassemia. (1999) (41)
- Control of homozygous β‐thalassemia by carrier screening and antenatal diagnosis in Sardinians (1984) (41)
- HbH disease in Sardinia: molecular, hematological and clinical aspects. (1992) (41)
- Purging iron from the heart (2004) (40)
- Strategy for a multicenter phase I clinical trial to evaluate globin gene transfer in β‐thalassemia (2010) (40)
- Natural history of hepatitis C in thalassemia major: a long‐term prospective study (2013) (40)
- Heterozygous β‐thalassemia: Relationship between the hematological phenotype and the type of β‐thalassemia mutation (1992) (39)
- Toward optimizing the use of deferasirox: potential benefits of combined use with deferoxamine (2013) (39)
- α‐thalassemia carrier identification by DNA analysis in the screening for thalassemia (1998) (39)
- Somatic deletion of the normal β‐globin gene leading to thalassaemia intermedia in heterozygous β‐thalassaemic patients (2004) (39)
- Population-based genetic screening. (1991) (38)
- Effect of deferiprone or deferoxamine on right ventricular function in thalassemia major patients with myocardial iron overload (2011) (37)
- Effect of consanguinity on screening for thalassemia. (2002) (37)
- Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert's syndrome (1999) (36)
- Deferiprone‐induced agranulocytosis: 20 years of clinical observations (2016) (35)
- Clinical Research Update: Thalassemias in Sardinia Molecular Pathology, Phenotype‐Genotype Correlation, and Prevention (1991) (35)
- Deferasirox: pharmacokinetics and clinical experience (2012) (35)
- Recent advances in the molecular understanding of non-transfusion-dependent thalassemia. (2012) (35)
- Assessment and management of iron overload in β‐thalassaemia major patients during the 21st century: a real‐life experience from the Italian Webthal project (2013) (34)
- Deletion delta-thalassemia: the 7.2 kb deletion of Corfu delta beta-thalassemia in a non-beta-thalassemia chromosome. (1990) (33)
- Thalassaemia and Glucose-6-Phosphate Dehydrogenase Screening in 13- to 14-Year-Old Students of the Sardinian Population: Preliminary Findings (2008) (32)
- Identification of Two New Synthetic Histone Deacetylase Inhibitors That Modulate Globin Gene Expression in Erythroid Cells from Healthy Donors and Patients with Thalassemia (2007) (32)
- Changing patterns of splenectomy in transfusion‐dependent thalassemia patients (2011) (31)
- Differences in the erythropoiesis-hepcidin-iron store axis between hemoglobin H disease and β-thalassemia intermedia (2015) (31)
- Phenotype-genotype correlation in haemoglobin H disease in childhood. (1983) (31)
- Effects of combined deferiprone with deferoxamine on right ventricular function in thalassaemia major (2012) (30)
- Delayed fetal hemoglobin switching in subjects with KLF1 gene mutation. (2012) (29)
- Impact of heart magnetic resonance imaging on chelation choices, compliance with treatment and risk of heart disease in patients with thalassaemia major (2013) (29)
- β° Thalassemia Trait in Sardinia (1979) (29)
- Molecular pathology of haemoglobin H disease in Sardinians (1986) (29)
- EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies (2015) (29)
- Homozygous deletion of the major alpha-globin regulatory element (MCS-R2) responsible for a severe case of hemoglobin H disease. (2010) (28)
- Molecular diagnosis and carrier screening for beta thalassemia. (1997) (27)
- Hemoglobin Cagliari (beta 60 [E4] Val----Glu): a novel unstable thalassemic hemoglobinopathy. (1991) (27)
- Pathophysiology of beta thalassaemia. (2011) (27)
- Prevention of Thalassaemias and Other Haemoglobin Disorders: Volume 2: Laboratory Protocols (2012) (27)
- Evaluation of an automatic HPLC analyser for thalassemia and haemoglobin variants screening (1995) (26)
- Genotype-phenotype correlations in beta-thalassemias. (1994) (26)
- Delta +-thalassemia in Sardinia. (1983) (25)
- Cholelithiasis in thalassemia major (2009) (25)
- Glutathione S‐transferase gene polymorphism and cardiac iron overload in thalassaemia major (2008) (25)
- Antenatal Diagnosis of β‐Thalassemia in Sardinia a (1990) (24)
- Effects of combined deferiprone and desferrioxamine iron chelating therapy in β‐thalassemia major end‐stage heart failure (2007) (24)
- Hemoglobin A2 in Iron Deficient 8-Thalassemia Heterozygotes (1981) (24)
- Effects of combined deferiprone and desferrioxamine iron chelating therapy in beta-thalassemia major end-stage heart failure: a case report. (2007) (22)
- A thalassemic child becomes adult. (2003) (22)
- Hemoglobin inclusions in heterozygous alpha-thalassemia according to their alpha-globin genotype. (1984) (22)
- Osteoporosis in beta-thalassemia: Clinical and genetic aspects. (2005) (22)
- Responsiveness to oral iron and ascorbic acid in a patient with IRIDA. (2012) (22)
- Interaction between the Glucose‐6‐Phosphate Dehydrogenase Deficiency and Thalassaemia Genes at Phenotype Level (1980) (22)
- Longitudinal analysis of heart and liver iron in thalassemia major patients according to chelation treatment. (2013) (21)
- Phase II clinical evaluation of deferasirox , a once-daily oral chelating agent , in pediatric patients with β-thalassemia major (2006) (21)
- Interaction of Alpha and Beta Thalassaemia Genes in Two Sardinian Families (1979) (21)
- Iron chelation: new therapies. (2001) (21)
- Brazilian Thalassemia Association protocol for iron chelation therapy in patients under regular transfusion (2013) (20)
- Genetic counseling and genetic heterogeneity in the thalassemias (1985) (20)
- Delta beta (F)-thalassaemia in Sardinia. (1982) (20)
- Iron-deficiency anemia secondary to mutations in genes controlling hepcidin (2010) (19)
- Prospective study of red blood cell indices, hemoglobin A2, and hemoglobin F in infants heterozygous for Beta-thalassemia. (1981) (19)
- In vivo activation of the human δ-globin gene: the therapeutic potential in β-thalassemic mice (2014) (19)
- An Electronic Infrastructure for Research and Treatment of the Thalassemias and Other Hemoglobinopathies: The Euro-Mediterranean Ithanet Project (2009) (19)
- Phenotypic effect of heterozygous α and β-Thalassemia interaction (1983) (19)
- Once-daily oral deferasirox for the treatment of transfusional iron overload (2008) (18)
- Hb Sallanches [α104(G11)Cys→Tyr]: A Rare α2-Globin Chain Variant Found in the Homozygous State in Three Members of a Pakistani Family (2000) (18)
- Preliminary experience with the differential pH technique for glucose-6-phosphate dehydrogenase (G6PD) measurement in whole blood: application to an area with high prevalence of thalassaemia and G6PD deficiency. (1990) (18)
- Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray. (2002) (18)
- A promoter mutation, C → T at position ‐92, leading to silent /3‐thalassaemia (1995) (17)
- Normal individuals with high Hb A2 levels (1993) (17)
- The repeated sequence (AT)x(T)y upstream to the beta-globin gene is a simple polymorphism. (1993) (17)
- Once-Daily Treatment with the Oral Iron Chelator ICL670 (Exjade®): Results of a Phase II Study in Pediatric Patients with β-Thalassemia Major. (2004) (17)
- A Randomized, Placebo Controlled, Double Blind Trial of the Effect of Combined Therapy with Deferoxamine and Deferiprone on Myocardial Iron in Thalassaemia Major Using Cardiovascular Magnetic Resonance. (2005) (17)
- Prevention of Thalassaemias and Other Haemoglobin Disorders: Volume 1: Principles (2013) (17)
- A decisional algorithm to start iron chelation in patients with beta thalassemia (2014) (17)
- Development of a new disease severity scoring system for patients with non-transfusion-dependent thalassemia. (2016) (16)
- Blood glucose normalization-induced haemolysis in three adolescents with type 1 diabetes mellitus at onset and unknown G-6-PD deficiency. (1996) (16)
- Structural and immunologic analysis of gene triplications in the Ig heavy chain constant region locus. (1994) (16)
- Deferasirox demonstrates a dose-dependent reduction in liver iron concentration and consistent efficacy across subgroups of non-transfusion-dependent thalassemia patients (2013) (16)
- Chronic liver disease in transfusion-dependent thalassemia: liver iron quantitation and distribution. (1981) (15)
- Quantitation of Hb a2 with DE-52 microchromatography in whole blood as screening test for beta-thalassemia heterozygotes. (1977) (15)
- α-Globin Gene Quadruplication and Heterozygous β-Thalassemia: A Not So Rare Cause of Thalassemia Intermedia (2013) (15)
- Post-mortem study of the association between cardiac iron and fibrosis in transfusion dependent anaemia (2017) (14)
- Heterozygous β‐thalassemia with thalassemia intermedia phenotype (1998) (14)
- Prevention of homozyous /-thalassemia by carrier screening and prenatal diagnosis in Sardinia (1981) (14)
- Posttranslational deamidation of proteins: the case of hemoglobin J Sardegna [alpha50(CD8)His-->Asn-->Asp]. (1999) (14)
- Clinical management of cardiovascular complications in patients with thalassaemia major: a large observational multicenter study. (2011) (14)
- Cytogenetic and molecular characterization of a variant translocation associated with acute promyelocytic leukemia and involving chromosomes 11, 15 and 17. (1996) (14)
- Beta 0 thalassemia trait in Sardinia. (1979) (14)
- Efficacy and Safety of Deferasirox (Exjade®) with up to 4.5 Years of Treatment in Patients with Thalassemia Major: A Pooled Analysis (2008) (14)
- Fetal hydrops in Sardinia: implications for genetic counselling (1990) (14)
- Evaluation of the BeTha Gene 1 Kit for the Qualitative Detection of the Eight Most Common Mediterranean β‐Thalassemia Mutations (1998) (14)
- Iron stores and iron deficiency anemia in children heterozygous for beta-thalassemia. (1990) (13)
- Long-Term Treatment with Deferasirox (Exjade®, ICL670), a Once-Daily Oral Iron Chelator, Is Effective in Patients with Transfusion-Dependent Anemias. (2007) (13)
- Antenatal diagnosis of beta-thalassemia in Sardinia. (1990) (13)
- SCREENING AND DIAGNOSIS FOR HAEMOGLOBIN DISORDERS (2013) (13)
- Complexity of the alpha-globin genotypes identified with thalassemia screening in Sardinia. (2014) (13)
- Analytical evaluation of the Tosoh HLC-723 G7 automated HPLC analyzer for hemoglobin A2 and F determination. (2005) (13)
- Deferasirox (Exjade®) in Pediatric Patients with β-Thalassemia: Update of 4.7-Year Efficacy and Safety from Extension Studies (2008) (13)
- Interaction of heterozygous βo‐thalassemia with single functional α‐globin gene (1988) (12)
- Alpha thalassaemia in Sardinian newborns (1984) (12)
- Two new β-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention (2009) (12)
- Alpha globin gene analysis in a Sardinian family with interacting alpha and beta thalassaemia genes (1983) (11)
- Heterozygous beta-thalassemia: relationship between the hematological phenotype and the type of beta-thalassemia mutation. (1992) (11)
- Clinical utility of fractionating erythrocytes into "Percoll" density gradients. (1991) (11)
- Serum ferritin levels in hemoglobin H disease. (1983) (11)
- Prenatal diagnosis of inherited hemoglobinopathies (1986) (11)
- Evaluation of ICL670, a Once‐Daily Oral Iron Chelator in a Phase III Clinical Trial of β‐Thalassemia Patients with Transfusional Iron Overload (2005) (11)
- Management of thalassaemia. (1972) (11)
- Pitfalls in genetic counselling for β‐thalassemia: an individual with 4 different thalassemia mutations (1988) (10)
- Control of homozygous beta-thalassemia by carrier screening and antenatal diagnosis in Sardinia. (1982) (10)
- Homozygosity for nondeletion δ-β0 thalassemia resulting in a silent clinical phenotype (2002) (10)
- Cumulative Efficacy and Safety of 5-Year Deferasirox (Exjade®) Treatment in Pediatric Patients with Thalassemia Major: A Phase II Multicenter Prospective Trial (2008) (10)
- Calibration of myocardial iron concentration against T2-star Cardiovascular Magnetic Resonance (2009) (10)
- Human α-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3′ of the ζ-globin gene (1992) (9)
- Seasonal variation of pretransfusion hemoglobin levels in patients with thalassemia major. (2006) (9)
- ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia (2010) (9)
- SERUM FERRITIN FOR PREDICTING CLINICALLY RELEVANT LIC THRESHOLDS TO GUIDE MANAGEMENT OF PATIENTS WITH NONTRANSFUSION-DEPENDENT THALASSEMIA TREATED WITH DEFERASIROX: THALASSA STUDY EXTENSION ANALYSIS (2013) (9)
- Induction of fetal hemoglobin in the presence of increased 3-hydroxybutyric acid associated with beta-ketothiolase deficiency. (1994) (9)
- Variability of the immunoglobulin heavy chain constant region locus: a population study (1995) (8)
- An evaluation of the Diamat HPLC analyser for simultaneous determination of haemoglobins A2 and F (1989) (8)
- Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia. (1988) (8)
- Best Practice Guidelines for carrier identification and prenatal diagnosis of haemoglobinopathies (2002) (8)
- Beta-Thalassaemia types in southern Sardinia. (1981) (8)
- Hemoglobin H disease in Sardinia: phenotypic and genetic observations. (1978) (8)
- A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia (1994) (7)
- Homozygosity for nondeletion delta-beta(0) thalassemia resulting in a silent clinical phenotype. (2002) (7)
- HOMOZYGOUS NON‐DELETION α2 GLOBIN GENE MUTATION (INITIATION CODON MUTATION): CLINICAL AND HAEMATOLOGICAL PHENOTYPE (1991) (7)
- Chromosomal aberration frequencies in patients with thalassaemia major undergoing therapy with deferiprone and deferoxamine in a comparative crossover study. (2003) (7)
- Hematological Characteristics of Sardinian α-Thalassemia Carriers Detected in a Population Study (1980) (7)
- C-->T mutation at -158 G gamma HPFH associated with 4 bp deletion (-225-222) in the promoter region of the A gamma gene in homozygous beta 0 39 nonsense thalassemia. (1999) (7)
- Globin gene mapping studies in Sardinian patients homozygous for beta zero Thalassaemia. (1983) (7)
- Use of erythropoiesis stimulating agents for the treatment of anaemia and related fatigue in a pregnant woman with HbH disease (2009) (7)
- Interferon-alpha 2a therapy in CML: disappearance of BCR/ABL transcript in a case of long-lasting continuous cytogenetic conversion. (1994) (7)
- Globin chain synthesis analysis by high performance liquid chromatography in the screening of thalassemia syndromes. (1998) (7)
- Molecular pathology of thalassemia intermedia (1990) (7)
- FETAL DNA ANALYSIS (2012) (7)
- Hemoglobin Sabine [beta 91 (F7) Leu-->Pro]: occurrence in a Sardinian individual with hemolytic anemia and inclusion bodies. (1992) (7)
- Experiences in the measurement of RBC-bound IgG as markers of cell age. (2004) (7)
- Frequency of hemochromatosis C282Y and H63D mutations in Sardinia. (2002) (6)
- Hemoglobin A2 in iron deficient beta-thalassemia heterozygotes. (1981) (6)
- Glutathione S-Transferase Gene Polymorphism and Heart Iron Overload in Thalassemia Major. (2007) (6)
- Deletions, duplications and triplications of the IGHC region in different Italian populations. (1993) (6)
- Neutropenia in Patients with Thalassemia Major. (2004) (6)
- Improved Endothelial Function with Combined Chelation Therapy in Thalassaemia Major. (2006) (6)
- IFNL3 polymorphisms and HCV infection in patients with beta thalassemia. (2015) (6)
- SCREENING FOR THALASSAEMIA (1980) (6)
- Plasmodium malariae transfusion malaria in splenectomized patients with thalassemia major. (1981) (6)
- Red cell pyruvate kinase deficiency in Southern Sardinia. (2010) (5)
- New case of contiguous gene syndrome at chromosome 8p11.2p12 (2005) (5)
- FETAL HÆMOGLOBIN AND MALARIA (1977) (5)
- Phenotype-genotype correlation in β-thalassemia (2012) (5)
- First Detection of Hb Taybe [α38(C3) or α39(C4) Thr→0 (α1)] in An Italian Child (2012) (5)
- EFFICACY AND TOLERABILITY OF DEFERASIROX DOSES > 30 MG/KG/DAY IN PATIENTS WITH TRANSFUSION-DEPEN DENT ANAEMIA AND IRON OVERLOAD (2008) (4)
- Human alpha-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3' of the zeta-globin gene. (1992) (4)
- A novel δº‐Thalassemia mutation: TGG→TAG (TRP→STOP) at codon 37 (1994) (4)
- PHENOTYPIC MANIFESTATIONS OF HETEROZYGOUS NON‐DELETION α‐THALASSAEMIA (αα/(αα)th) IN SARDINIANS (1983) (4)
- Clinical presentation of thalassemia major due to homozygous beta (0)-thalassemia. (1981) (4)
- Interaction of heterozygous beta zero-thalassemia with single functional alpha-globin gene. (1988) (4)
- Globin chain synthesis analysis in obligate beta 0-thalassemia heterozygotes with isolated increase of hemoglobin A2 levels. (1981) (4)
- Limits to the Use of the Glucose 6-Phosphate Dehydrogenase/6-Phosphogluconate Dehydrogenase Index for the Detection of Glucose 6-Phosphate Dehydrogenase Deficiency (1998) (4)
- Safety and Efficacy of Alternate Desferrioxamine and Deferiprone Compared to Desferrioxamine Alone in the Treatment of Iron Overload in Transfusion-Dependent Thalassemia Patients. (2004) (4)
- Two atypical forms of HbH disease in Sardinia (2011) (4)
- Hemoglobin Constitution of Double Heterozygotes for α or β-Thalassemia and HB J Sardegna (1984) (4)
- Deferasirox Continues to Reduce Iron Overload in Non-Transfusion-Dependent Thalassemia: A One-Year, Open-Label Extension to a One-Year, Randomized, Double-Blind, Placebo-Controlled Study (THALASSA) (2012) (4)
- [Histological picture of liver disease in thalassemia intermedia]. (2000) (3)
- Posttranslational Deamidation of Proteins: The Case of Hemoglobin J Sardegna [ a 50(CD8)His 3 Asn 3 Asp] (1999) (3)
- Onset of Cardiac Iron Loading in Pediatric Patients. (2007) (3)
- HAEMOGLOBIN PATTERN ANALYSIS (2012) (3)
- Pharmacologic stimulation of Hb F in patients with sickle cell anemia. (1985) (3)
- Prevalence and Risk Factors for Pulmonary Arterial Hypertension in a Large Group of β-Thalassemia Patients Using Right Heart Catheterization (2014) (3)
- A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G→T) (1998) (3)
- Identification of three rare beta-thalassemia mutations in the Pakistani population. (2000) (3)
- Worldwide survey of T2* cardiovascular magnetic resonance in Thalassaemia (2011) (3)
- Identification and functional characterization of a new hemoglobin variant in Sardinia: Hb Muravera [beta47 GAT->GTT, (CD6) Asp->Val]. (2002) (3)
- Haematological characteristics of the beta 0 thalassaemia trait in Sardinian children. (1980) (3)
- Interaction of α- and δβ0-thalassaemia: haematological features and globin chain synthesis analysis (1981) (3)
- alpha-Thalassaemia in Sardinian infants. (1980) (3)
- Incidence of Pulmonary Hypertension in Haemoglobinopathic Patients without Left Ventricular Disfunction. (2005) (3)
- HB A2-SANT' antioco [α2δ293(F9)CYS→GLY]: A new δ chain variant identified by sequencing of amplified DNA (1994) (3)
- Reduction in liver iron concentration is consistent across subgroups of non-transfusion-dependent thalassemia patients treated with deferasirox : results from the 1-year thalassa study (2012) (3)
- Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site (1994) (3)
- Hb Sallanches [alpha104(G11)Cys-->Tyr]: a rare alpha2-globin chain variant found in the homozygous state in three members of a Pakistani family. (2000) (2)
- Percentile curves for red cell indices of beta zero-thalassaemia heterozygotes in infancy and childhood. (1991) (2)
- Deferasirox Significantly Reduces Liver Iron Concentration In Non-Transfusion-Dependent Thalassemia Patients with Iron Overload: Results From the 1-Year Randomized, Double-Blind, Placebo-Controlled Phase II THALASSA Study (2011) (2)
- Lack of Heart Iron Overload in Patients with Thalassemia Intermedia. (2006) (2)
- Urinary Hepcidin in Thalassemic Syndromes. (2005) (2)
- [Our experience in screening and genetic counseling for beta-thalassemia]. (1981) (2)
- Inter-Site Validation of a Single Breath Hold T2* MR Technique for Heart and Liver Iron Measurement. (2005) (2)
- Reply to: Prophylactic use of deferiprone (L1) and MRI T2* or T2 for preventing heart disease in thalassaemia (2004) (2)
- Normal Δ-Globin Gene Sequences in Sardinian Nondeletional Δβ-Thalassemia (1992) (2)
- Brief report Amelioration of Sardinian (cid:1) 0 thalassemia by genetic modifiers (2009) (2)
- Heterozygous beta-thalassemia with thalassemia intermedia phenotype. (1998) (2)
- Percentile curves for red cell indices of 413-1413-1413-1heterozygotes in infancy and childhood (1991) (2)
- Lack of Correlation between Serum Ferritin and Liver Iron Concentration in Beta-Zero Thalassemia Intermedia. (2004) (2)
- A genetic combination of silent beta-thalassaemia, high Hb A2 beta-thalassaemia, and single alpha globin gene deletion causing mild thalassaemia intermedia. (1984) (2)
- A Note from the Editors and Publishers (1983) (2)
- Phenotypic manifestations of heterozygous non-deletion alpha-thalassaemia (alpha alpha/(alpha alpha)th) in Sardinians. (1983) (1)
- haemoglobinopathies diagnosis of thalassaemias and related testing in the 2 The role of haemoglobin A (2008) (1)
- Thalassemia types in Southern Sardinia. (1982) (1)
- Efficacy of the Novel Oral Iron Chelator Deferitrin in Metabolic Iron Balance Studies. (2007) (1)
- Hematological phenotype of carriers of deletion alpha-thalassemia according to the alpha-globin genotype. (1985) (1)
- Safety, Tolerability and Dose Response of FBS0701, a Novel Iron Chelator for Treatment of Transfusional Iron Overload: Results of a 24-Week Multicenter, International Phase 2 Study (2011) (1)
- International Comparison Study of Toxic Iron Assays in Patients with Iron Overload Disorders (2014) (1)
- -Thalassemia Patients Using Right Heart Catheterization: A Webthal® Study β Prevalence and Risk Factors for Pulmonary Arterial Hypertension in a Large Group of (2013) (1)
- A genetic combination ofsilent 3-thalassaemia, high HbA, (-thalassaemia, andsingle ocglobin genedeletion causing mild thalassaemia intermedia (2011) (1)
- Structural and Functional Characterization of a New Double Variant Haemoglobin (HbG-Philadelphia/Duarte α 2 68Asn→Lys β 2 62Ala→Pro) (2010) (1)
- Hematological characteristics of sardinian alpha-thalassemia carriers detected in a population study. (1980) (1)
- Deferasirox Treatment for up to 3 Years in Iron-Overloaded Pediatric Patients Reduces Serum Ferritin with a Manageable Safety Profile (2012) (1)
- α-Thalassemia in Premature Newborns (1986) (1)
- Prenatal Diagnosis and Screening of the Haemoglobinopathies (1999) (1)
- Estimation of the Prevalence of Pulmonary Artery Hypertension in a Large Group of β-Thalassemia Patients Using Right Heart Catheterization (2012) (1)
- Changing pattern of splenectomy in thalassemia (2001) (1)
- Longitudinal study of a newborn with a combination of deletion and nondeletion alpha-thalassemia-2. (1984) (1)
- deferiprone in subjects with transfusion-dependent beta-thalassemia Lack of progressive hepatic fibrosis during long-term therapy with (2013) (0)
- The Effect of Combined Chelation Therapy in the Treatment of Severe Myocardial Iron Loading in Beta Thalassaemia Major. (2005) (0)
- Acute fetal anaemia: a case of feto-maternal transfusion. (1998) (0)
- Hb Sassari [alpha 126(H9)Asp-->His] results from a GAC-->CAC mutation in the alpha 1-globin gene. (1998) (0)
- AHSP Promoter Homopolymer in Beta-Thalassemia Syndromes. (2006) (0)
- A Randomized, Placebo-Controlled, Double-Blind Trial of the Effect of Combined Therapy With Deferoxamine and Deferiprone on Myocardial Iron in Thalassemia Major Using Cardiovascular Magnetic Resonance Imaging (2007) (0)
- T Cell-Depleted Related Haploidentical Peripheral Blood Stem Cell Transplantation in a Patient with Fanconi Anemia. Cagliari Experience. (2004) (0)
- Hb A2-Sant' Antioco [alpha 2 delta (2)93(F9)Cys-->Gly]: a new delta chain variant identified by sequencing of amplified DNA. (1994) (0)
- siderosis beta-thalassemia major patients with asymptomatic myocardial Randomized controlled trial of deferiprone or deferoxamine in (2009) (0)
- Alfa Thalassemia Intermedia (HbH disease): How the New Information Provided by the Routine Hematology Analysers May Help in Its Differential Diagnosis or Flagging (2012) (0)
- Hb Belfast [β15(A12)Trp→Arg]: Definition of the Clinical and Hematological Phenotype (2004) (0)
- Detection of β-thalassemia mutations by Arrayed Primer Extension (APEX) Technology (2005) (0)
- Hb Puttelange [beta 140(H19)Ala-->Val] in an Italian man with polycythemia. (1997) (0)
- Prenatal diagnosis of inherited hemoglobinopathies. (1989) (0)
- HB Sassari [α126(H9)ASPHIS] Results from a GACCAC Mutation in the α1-Globin Gene (1998) (0)
- Table 1. [Red Blood Cell Indices in Adults with Alpha-Thalassemia]. (2013) (0)
- NON-DELETIONAL HPFH MUTATION DATA TABLE (2013) (0)
- GLOBIN CHAIN SYNTHESIS (2012) (0)
- EMERGING TECHNOLOGIES FOR HAEMOGLOBINOPATHY SCREENING AND DIAGNOSIS (2012) (0)
- Hereditary Spherocytosis: How the New Information Provided by the Routine Hematology Analysers May Help in Its Differential Diagnosis or Flagging (2012) (0)
- Cardiovascular Involvement in Thalassemia Major Patients: WEB-THAL® Data Analysis (A Web-Based Multicentric Database). (2007) (0)
- phenotype thalassemia resulting in a silent clinical 0 β - δ Homozygosity for nondeletion (2012) (0)
- HPFH From Klf1 Haploinsufficiency Combined to Transcriptional Heterozygous β-Thalassemia (2011) (0)
- Beta Thalassemia Trait: How the New Information Provided by the Routine Hematology Analysers May Help in Its Differential Diagnosis or Flagging (2012) (0)
- r-thalassaemia types insouthern Sardinia (1981) (0)
- The proliferation/differentiation switch of the progenitor cells: implications for cell therapy (2001) (0)
- Molecular pathology and diagnosis of beta-thalassemia intermedia (1995) (0)
- [Table, GAP-PCR]. (2012) (0)
- Figure 2. [Diagnostic algorithm for hemoglobinopathies]. (2013) (0)
- Management of thalassemia major (2008) (0)
- Interaction of alpha- and delta beta o- thalassaemia: haematological features and globin chain synthesis analysis. (1981) (0)
- A novel delta O-thalassemia mutation: TGG-->TAG (TRP-->STOP) at codon 37. (1994) (0)
- Molecular comparison of 86f-thalas persistence of fetal hemoglobin DN regulatory area? (deletion/repetitive sequences/y-globin genes/polymorphism) (2016) (0)
- Functional genomics approaches to the study of human globin-gene switching (2001) (0)
- Assessing the Efficacy of RBC Component Transfusion Therapy in Patients with Thalassemia Major (2012) (0)
- Biochemical Studies in beta-Thalassemia intermedia patients with beta°/beta° genotype (2006) (0)
- THE PUBLISHERS-THALASSAEMIA INTERNATIONAL FEDERATION (TIF) (2013) (0)
- DEDICATED TO PROFESSOR RENZO GALANELLO (2013) (0)
- Gene therapy of haemoglobinopathy: An Italy-USA project (2010) (0)
- Structural and Functional Characterization of a New Double Variant Haemoglobin ( HbG-Philadelphia / Duarte α 68 Asn → Lys 2 β 62 Ala → Pro 2 ) (2014) (0)
- Haematopoietic Stem Cell Transplantation in Thalassaemic Patient with Renal Failure on Hemodialysis (2008) (0)
- Polymorphism of S-transferase glutathione gene and a major thalassaemia cardiac iron (2007) (0)
- Table 3. [Summary of Molecular Genetic Testing Used in Alpha-Thalassemia]. (2013) (0)
- A comprehensive phenotypic and genetic analysis of centenarians from 13 Villages located in the Sardinian region of Barbagia-Mandrolisai (2012) (0)
- DELTA BETA THALASSAEMIA AND HPFH MUTATION DATA TABLE (2013) (0)
- 25 Three years follow-up outcome of deferiprone for pantothenate kinase-associated neurodegeneration (PKAN) (2012) (0)
- Prospective study of transfusion-associated hepatitis in thalassemic children following the introduction of anti-HCV donor screening. (2002) (0)
- Molecular basis of congenital and acquired deafness. (2005) (0)
- "STATISTICAL GENETICS APPLIED TO β-THALASSEMIA PHENOTYPE SEVERITY" (2010) (0)
- DELTA THALASSAEMIA MUTATION TABLE (2013) (0)
- Longitudinal Study of a Newborn with a Combination of Deletion and Nondeletion α-Thalassemia-2 (1984) (0)
- Effect of Iron Chelators on Cardiac Iron Assessed by MR T2*in Thalassemia Major (2008) (0)
- Genetic modifier factors of ß-thalassemia [Modificatori genetici della ß-talassemia] (2011) (0)
- Alpha-thalassemia in premature newborns. (1986) (0)
- GLOBAL EPIDEMIOLOGY TABLES (2013) (0)
- Retrospective evaluation of different iron chelators on cardiac T2 (2008) (0)
- Prevention ofHomozygous /8-Thalassemia byCarrier Screening andPrenatal Diagnosis inSardinia (1981) (0)
- FBS0701, a novel oral iron chelator, in transfusional iron overload A phase 2 study of the safety, tolerability and pharmacodynamics of (2012) (0)
- Functional studies on a new unstable hemoglobin variant [ beta47 (CD6) Asp->Val] (1999) (0)
- Multi-Centre Validation of the Cardiovascular Magnetic Resonance Multi Breath-Hold T2* Technique for Myocardial Iron Quantification in Thalassaemia Major. (2005) (0)
- Rearrangement of immunoglobin heavy chain constant region in Italian population. (1993) (0)
- ALPHA THALASSAEMIA MUTATION DATA TABLES (2013) (0)
- a(F)-thalassaemia inSardinia (1982) (0)
- Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia. (1992) (0)
- Triplications in the immunoglobulin heavy chain constant region: molecular and functional study (1993) (0)
- Interaction between deletion delta-thalassemia and beta zero-thalassemia (codon 39 nonsense mutation) in a Sardinian family. (1989) (0)
- BETA THALASSAEMIA MUTATION DATA TABLES (2013) (0)
- Liver iron in thalassemia patients receiving L1 (1998) (0)
- Hemoglobin constitution of double heterozygotes for alpha or beta-thalassemia and Hb J Sardegna. (1984) (0)
- thalassemia Delineation of the molecular basis of delta- and normal HbA2 beta- (2011) (0)
- ALPHA THALASSAEMIA MUTATIONS: FREQUENCY AND DISTRIBUTION TABLES (2013) (0)
- Glucose-6-phosphate dehydrogenase deficiency. (1991) (0)
- Optimizing the Use of Deferasirox: Evidence of Synergy When Combined with Deferoxamine (2010) (0)
- Assessment and management of iron overload in β-thalassemia major patients in Italy : a real-life experience from the Webthal® Project (2012) (0)
- Analysis of candidate SNPs for high Hb F in beta thalassemia intermedia patients (2008) (0)
- ISOLATION OF HUMAN AMNIOTIC STEM CELLS FROM TERM PLACENTA AND THEIR IN VITRO DIFFERENTIATION IN AIRWAY EPITHELIUM TO CORRECT CF PHENOTYPE (2011) (0)
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