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
|