Silverio Perrotta

Author PubWeight™ 52.97‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia. Blood 2005 6.07
2 Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 2011 2.29
3 Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet 2009 2.12
4 Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. Am J Hematol 2010 1.60
5 Rituximab for the treatment of refractory autoimmune hemolytic anemia in children. Blood 2003 1.58
6 Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet 2011 1.37
7 Iron chelation with deferasirox in adult and pediatric patients with thalassemia major: efficacy and safety during 5 years' follow-up. Blood 2011 1.23
8 Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship. Haematologica 2009 1.20
9 Red blood cell membrane defects. Rev Clin Exp Hematol 2003 1.19
10 Genetic basis of congenital erythrocytosis: mutation update and online databases. Hum Mutat 2013 1.18
11 p57(Kip2) and cancer: time for a critical appraisal. Mol Cancer Res 2011 1.13
12 Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation. J Clin Invest 2014 1.13
13 Prevalence and risk factors for pulmonary arterial hypertension in a large group of β-thalassemia patients using right heart catheterization: a Webthal study. Circulation 2013 1.06
14 Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation). Haematologica 2011 1.02
15 The endovanilloid/endocannabinoid system: a new potential target for osteoporosis therapy. Bone 2011 1.01
16 ROBO2 gene variants are associated with familial vesicoureteral reflux. J Am Soc Nephrol 2008 0.98
17 PTPepsilon has a critical role in signaling transduction pathways and phosphoprotein network topology in red cells. Proteomics 2008 0.96
18 Frequency of congenital dyserythropoietic anemias in Europe. Eur J Haematol 2010 0.94
19 Reliability of EMA binding test in the diagnosis of hereditary spherocytosis in Italian patients. Acta Haematol 2010 0.90
20 Membrane association of peroxiredoxin-2 in red cells is mediated by the N-terminal cytoplasmic domain of band 3. Free Radic Biol Med 2012 0.90
21 A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity. Pediatr Nephrol 2008 0.90
22 CNR2 functional variant (Q63R) influences childhood immune thrombocytopenic purpura. Haematologica 2011 0.89
23 Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes. Blood Cells Mol Dis 2003 0.88
24 P27Kip1 serine 10 phosphorylation determines its metabolism and interaction with cyclin-dependent kinases. Cell Cycle 2014 0.88
25 Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. Nephrol Dial Transplant 2007 0.88
26 The tyrosine kinase inhibitor dasatinib induces a marked adipogenic differentiation of human multipotent mesenchymal stromal cells. PLoS One 2011 0.87
27 Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene. Orphanet J Rare Dis 2011 0.86
28 Splenectomy prolongs in vivo survival of erythrocytes differently in spectrin/ankyrin- and band 3-deficient hereditary spherocytosis. Blood 2002 0.85
29 Endocrine function and bone disease during long-term chelation therapy with deferasirox in patients with β-thalassemia major. Am J Hematol 2014 0.85
30 p57Kip2 is a downstream effector of BCR-ABL kinase inhibitors in chronic myelogenous leukemia cells. Carcinogenesis 2010 0.84
31 Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene. Haematologica 2007 0.83
32 Splenectomy for hereditary spherocytosis: complete, partial or not at all? Expert Rev Hematol 2011 0.82
33 Erythropoietin receptors on cancer cells: a still open question. J Clin Oncol 2007 0.82
34 Successful umbilical cord blood transplantation in a child with dyskeratosis congenita after a fludarabine-based reduced-intensity conditioning regimen. Br J Haematol 2002 0.82
35 The HIF2A gene in familial erythrocytosis. N Engl J Med 2008 0.82
36 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation. Hum Mutat 2005 0.81
37 Inappropriate leptin secretion in thalassemia: a potential cofactor of pubertal timing derangement. J Pediatr Endocrinol Metab 2003 0.81
38 Erythropoietin treatment can prevent blood transfusion in infantile pyknocytosis. Br J Haematol 2008 0.80
39 Cardiac autonomic regulation in response to a mixed meal is impaired in obese children and adolescents: the role played by insulin resistance. J Clin Endocrinol Metab 2014 0.79
40 Determination of deferasirox plasma concentrations: do gender, physical and genetic differences affect chelation efficacy? Eur J Haematol 2014 0.78
41 Rituximab (anti-CD20 monoclonal antibody) in children with chronic refractory symptomatic immune thrombocytopenic purpura: efficacy and safety of treatment. Int J Hematol 2006 0.78
42 Congenital dyserythropoietic anemia type II in human patients is not due to mutations in the erythroid anion exchanger 1. Blood 2003 0.78
43 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. Br J Haematol 2012 0.78
44 HNF-1β mutation affects PKD2 and SOCS3 expression causing renal cysts and diabetes in MODY5 kindred. J Nephrol 2013 0.78
45 Development of interactive algorithm for clinical management of acute events related to sickle cell disease in emergency department. Orphanet J Rare Dis 2014 0.77
46 Splenectomy in children with chronic ITP: long-term efficacy and relation between its outcome and responses to previous treatments. Pediatr Blood Cancer 2006 0.77
47 Re: Improved T2* assessment in liver iron overload by magnetic resonance imaging. Magn Reson Imaging 2009 0.77
48 Characterization of red cell membrane proteins as a function of red cell density: annexin VII in different forms of hereditary spherocytosis. FEBS Lett 2006 0.77
49 Lessons learned from the H1N1 pandemic: the need to improve systematic vaccination in Sickle Cell Disease children. A multi center survey in Italy. Vaccine 2010 0.76
50 Organizing national responses for rare blood disorders: the Italian experience with sickle cell disease in childhood. Orphanet J Rare Dis 2013 0.75
51 Gilbert syndrome as differential diagnosis of hyperbilirubinemia in acquired aplastic anemia. Pediatr Blood Cancer 2005 0.75
52 Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin. Platelets 2009 0.75
53 Non-allelic heterogeneity in familial unilateral renal adysplasia. Ann Genet 2002 0.75
54 Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus. J Pediatr Endocrinol Metab 2014 0.75