PubRank

Maurizio Margaglione

Author PubWeight™ 77.51‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin. Blood 2004 4.70
2 Insight into the nature of the CRP-coronary event association using Mendelian randomization. Int J Epidemiol 2006 2.70
3 Variation in genes encoding for interferon λ-3 and λ-4 in the prediction of HCV-1 treatment-induced viral clearance. Liver Int 2013 2.07
4 Risk factors and clinical presentation of portal vein thrombosis in patients with liver cirrhosis. J Hepatol 2004 1.62
5 Bleeding and re-thrombosis in primary antiphospholipid syndrome on oral anticoagulation: an 8-year longitudinal comparison with mitral valve replacement and inherited thrombophilia. Thromb Haemost 2005 1.50
6 Mutation analysis in hyperphenylalaninemia patients from South Italy. Clin Biochem 2013 1.44
7 Clinical relevance of inherited thrombophilia in implantation failure: who needs to be screened? Haematologica 2003 1.42
8 F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis. Blood 2012 1.31
9 Prognostic factors in noncirrhotic patients with splanchnic vein thromboses. Am J Gastroenterol 2007 1.13
10 Polymorphisms in factor II and factor VII genes modulate oral anticoagulation with warfarin. Haematologica 2004 1.12
11 Prevention and treatment of bleeding complications in patients receiving vitamin K antagonists, Part 1: Prevention. Am J Hematol 2009 1.11
12 The role of PC-1 and ACE genes in diabetic nephropathy in type 1 diabetic patients: evidence for a polygenic control of kidney disease progression. Nephrol Dial Transplant 2002 1.08
13 Impact of prothrombotic mutations and family history on the occurrence of intra-uterine fetal deaths. Haematologica 2002 0.99
14 The COX-2 G/C -765 polymorphism may modulate the occurrence of cerebrovascular ischemia. Blood Coagul Fibrinolysis 2006 0.94
15 Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. Mol Vis 2009 0.93
16 Haplotype M2 in the annexin A5 (ANXA5) gene and the occurrence of obstetric complications. Thromb Haemost 2009 0.91
17 Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study. Hum Mutat 2005 0.90
18 Inherited platelet disorders: thrombocytopenias and thrombocytopathies. Blood Transfus 2009 0.89
19 Eosinophilia and thrombophilia in churg strauss syndrome: a clinical and pathogenetic overview. Clin Appl Thromb Hemost 2009 0.89
20 Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA). Mol Genet Metab 2008 0.87
21 Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. Thromb Haemost 2002 0.86
22 PAI-1 4G/5G and ACE I/D gene polymorphisms and the occurrence of myocardial infarction in patients on intermittent dialysis. Nephrol Dial Transplant 2003 0.85
23 Methylarginines and mortality in patients with end stage renal disease: a prospective cohort study. Atherosclerosis 2009 0.85
24 Occurrence of the JAK2 V617F mutation in the Budd-Chiari syndrome. Blood Coagul Fibrinolysis 2008 0.85
25 Methylenetetrahydrofolate reductase and angiotensin converting enzyme gene polymorphisms in two genetically and diagnostically distinct cohort of Alzheimer patients. Neurobiol Aging 2003 0.84
26 Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strength. Thromb Haemost 2002 0.84
27 Annexin V expression in human placenta is influenced by the carriership of the common haplotype M2. Fertil Steril 2008 0.84
28 Sex modulation of the occurrence of jak2 v617f mutation in patients with splanchnic venous thrombosis. Thromb Res 2011 0.83
29 Gene polymorphisms and sport attitude in Italian athletes. Genet Test Mol Biomarkers 2011 0.83
30 Antithrombotic prophylaxis during pregnancy in women with deficiency of natural anticoagulants. Blood Coagul Fibrinolysis 2008 0.83
31 Relevance of interleukin-1 receptor antagonist intron-2 polymorphism in ischemic stroke. Cerebrovasc Dis 2003 0.83
32 The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene. Invest Ophthalmol Vis Sci 2011 0.83
33 The C677T methylenetetrahydrofolate reductase gene mutation does not influence cardiovascular risk in the dialysis population: results of a multicentre prospective study. Nephrol Dial Transplant 2004 0.83
34 Inherited abnormalities of fibrinogen: 10-year clinical experience of an Italian group. Blood Coagul Fibrinolysis 2006 0.82
35 TET2 mutations in Ph-negative myeloproliferative neoplasms: identification of three novel mutations and relationship with clinical and laboratory findings. Biomed Res Int 2013 0.82
36 Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family. Prenat Diagn 2005 0.82
37 A novel mutation of gene CBFA1/RUNX2 in cleidocranial dysplasia. Ann Clin Lab Sci 2007 0.82
38 A new JAK2 gene mutation in patients with polycythemia vera and splanchnic vein thrombosis. Blood 2007 0.81
39 Oral anticoagulants: Pharmacogenetics Relationship between genetic and non-genetic factors. Blood Rev 2008 0.81
40 Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation. Haematologica 2004 0.81
41 Plasma fibrinogen concentration predicts the risk of myocardial infarction differently in various parts of Europe: effects of beta-fibrinogen genotype and environmental factors. The HIFMECH Study. Thromb Haemost 2004 0.81
42 Homocysteine metabolism in families from southern Italy with neural tube defects: role of genetic and nutritional determinants. Prenat Diagn 2006 0.81
43 The haplotype M2 within the ANXA5 gene is independently associated with the occurrence of deep venous thrombosis. Thromb Haemost 2010 0.81
44 Effect of Interleukin-6 promoter polymorphisms in survivors of myocardial infarction and matched controls in the North and South of Europe. The HIFMECH Study. Thromb Haemost 2004 0.81
45 Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations. Ann Hum Genet 2014 0.81
46 Outcome of patients with splanchnic venous thrombosis presenting without overt MPN: a role for the JAK2 V617F mutation re-evaluation. Thromb Res 2013 0.81
47 Role of the M2 haplotype within the annexin A5 gene in the occurrence of pregnancy-related venous thromboembolism. Am J Obstet Gynecol 2010 0.80
48 The risk of occurrence of venous thrombosis: focus on protein Z. Thromb Res 2011 0.80
49 Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss. Hum Mutat 2002 0.80
50 Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia. Blood 2013 0.79
51 Perceived challenges and attitudes to regimen and product selection from Italian haemophilia treaters: the 2013 AICE survey. Haemophilia 2014 0.79
52 Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology. Clin Chem 2002 0.79
53 A novel G-to-A mutation in the intron-N of the protein S gene leading to abnormal RNA splicing in a patient with protein S deficiency. Haematologica 2003 0.79
54 A novel mutation in human ether-a-go-go-related gene, alanine to proline at position 490, found in a large family with autosomal dominant long QT syndrome. Am J Cardiol 2007 0.79
55 Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification. Genet Test Mol Biomarkers 2009 0.79
56 Fatal pulmonary thromboembolism. A retrospective autopsy study: searching for genetic thrombophilias (Factor V Leiden (G1691A) and FII (G20210A) gene variants) and dating the thrombus. Forensic Sci Int 2011 0.79
57 McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family. Indian J Hum Genet 2011 0.78
58 Homocysteine levels in amniotic fluid. Relationship with birth-weight. Thromb Haemost 2006 0.78
59 A new method for determination of plasma homocystine by isotope dilution and electrospray tandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci 2006 0.78
60 Protein Z levels and unexplained fetal losses. Fertil Steril 2004 0.78
61 Gain-of-function gene mutations and venous thromboembolism: distinct roles in different clinical settings. J Med Genet 2007 0.78
62 Elevated plasma activator inhibitor 1 is not related to insulin resistance and to gene polymorphism in healthy centenarians. Atherosclerosis 2002 0.78
63 Genetic basis of thrombosis. Clin Chem Lab Med 2010 0.78
64 A new case of combined factor V and factor VIII deficiency further suggests that the LMAN1 M1T mutation is a frequent cause in Italian patients. Blood Coagul Fibrinolysis 2007 0.77
65 A rapid method for the quantification of the enantiomers of Warfarin, Phenprocoumon and Acenocoumarol by two-dimensional-enantioselective liquid chromatography/electrospray tandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci 2007 0.77
66 Protein Z g-42a variant and the risk of pregnancy-related venous thromboembolism in a cohort of Italian patients. Thromb Res 2009 0.77
67 Inherited thrombophilia and gestational vascular complications. Best Pract Res Clin Haematol 2003 0.77
68 Venous thrombosis in oral contraceptive users and the presence of the JAK2 V617F mutation. Thromb Haemost 2008 0.76
69 Increased plasma prothrombin concentration in cirrhotic patients with portal vein thrombosis and prothrombin G20210A mutation. Thromb Haemost 2006 0.76
70 Glanzmann's thrombasthenia: modulation of clinical phenotype by alpha2C807T gene polymorphism. Haematologica 2003 0.76
71 Fetal sex identification in maternal plasma by means of short tandem repeats on chromosome x. Ann N Y Acad Sci 2008 0.76
72 Markers of haemostasis and angiogenesis in placentae from gestational vascular complications: impairment of mechanisms involved in maintaining intervillous blood flow. Thromb Res 2009 0.76
73 Lower birth-weight in neonates of mothers carrying factor V G1691A and factor II A(20210) mutations. Haematologica 2002 0.76
74 Does endothelial nitric oxide synthase gene variation play a role in the occurrence of hypertension in pregnancy? Hypertens Pregnancy 2003 0.76
75 De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema. J Allergy Clin Immunol 2013 0.76
76 Chronic thromboembolic pulmonary hypertension. Neth Heart J 2015 0.75
77 Maternal and fetal inherited thrombophilias. Am J Obstet Gynecol 2002 0.75
78 Correlation between factors involved in the local haemostasis and angiogenesis in full term human placenta. Thromb Res 2008 0.75
79 Family history of VTE: an easy tool to score the individual risk. Thromb Haemost 2013 0.75
80 Hereditary protein C deficiency and thrombosis risk: genotype and phenotype relation in a large Italian family. Eur J Haematol 2012 0.75
81 Thrombophilia polymorphisms and intrauterine growth restriction. N Engl J Med 2002 0.75
82 Janus kinase-2 mutation, cirrhosis and splanchnic vein thrombosis. Eur J Gastroenterol Hepatol 2008 0.75
83 How to handle low-molecular-weight heparins in patients with decreased renal function: an open issue. Intern Emerg Med 2008 0.75
84 Survival in primary antiphospholipid syndrome. A single-centre cohort study. Thromb Haemost 2016 0.75
85 Influence of the Gly1057Asp variant of the insulin receptor substrate 2 (IRS2) on insulin resistance and relationship with epicardial fat thickness in the elderly. Exp Gerontol 2012 0.75
86 Role of thrombophilia in adverse obstetric outcomes and their prevention using antithrombotic therapy. Semin Thromb Hemost 2009 0.75
87 Identification of six novel mutations in type I antithrombin deficient Italian families. Haematologica 2004 0.75
88 Effects of ethylene oxide and steam sterilization on dialysis-induced cytokine release by cuprophan membrane. Artif Organs 2002 0.75
89 A reliable and rapid tool for plasma quantification of 18 psychotropic drugs by ESI tandem mass spectrometry. J Pharm Biomed Anal 2012 0.75
90 Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy. Blood Coagul Fibrinolysis 2008 0.75
91 Preventing adverse obstetric outcomes in women with genetic thrombophilia. Fertil Steril 2002 0.75
92 A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions. Blood Coagul Fibrinolysis 2008 0.75
93 Adverse outcome in women with thrombophilia and bilateral uterine artery notches. Fertil Steril 2006 0.75
94 Homocysteine and antiphospholipid antibodies in a woman undergoing ovarian follicular stimulation: prospective clinical and laboratory evaluation. Am J Obstet Gynecol 2004 0.75
95 The factor V (FV) gene ASP79HIS polymorphism modulates FV plasma levels and affects the activated protein C resistance phenotype in presence of the FV Leiden mutation. Haematologica 2003 0.75
96 An unreported mutation within protein Z gene is associated with very low protein levels in women with fetal loss. Fertil Steril 2008 0.75
97 Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: a possible synergic effect? Hemoglobin 2009 0.75
98 Setting up a 2D-LC/MS/MS method for the rapid quantitation of the prostanoid metabolites 6-oxo-PGF(1alpha) and TXB2 as markers for hemostasis assessment. J Mass Spectrom 2009 0.75
99 Molecular characterization of a factor VII deficient patient supports the importance of the second epidermal growth factor-like domain. Haematologica 2004 0.75
100 A platelet defect modulates bleeding in mild hemophilia: the tale of 2 brothers. Clin Appl Thromb Hemost 2009 0.75
101 Increased warfarin consumption and residual fibrin turnover in thrombotic patients with primary antiphospholipid syndrome. Thromb Res 2011 0.75
102 Obstetric complications and pregnancy-related venous thromboembolism: the effect of low-molecular-weight heparin on their prevention in carriers of factor V Leiden or prothrombin G20210A mutation. Thromb Haemost 2012 0.75
103 Factor V Arg2074Cys: a novel missense mutation in the C2 domain of factor V. Thromb Haemost 2002 0.75
104 Stable-isotope dilution LC-ESI-MS/MS techniques for the quantification of total homocysteine in human plasma. J Chromatogr B Analyt Technol Biomed Life Sci 2009 0.75
105 Common variants in the thrombomodulin gene as a risk for myocardial infarction in the north of Europe (HIFMECH Study). Thromb Haemost 2004 0.75