Published in Blood Transfus on October 01, 2009
Innovative use of recombinant activated factor VII during physical rehabilitation in an Italian child with Glanzmann's thromboasthenia. Blood Transfus (2012) 0.79
Severe congenital thrombocytopaenia--first clinical manifestation of Noonan syndrome. BMJ Case Rep (2012) 0.75
Hermansky-Pudlak syndrome in pregnancy: A case report. Obstet Med (2016) 0.75
Identification of the platelet ADP receptor targeted by antithrombotic drugs. Nature (2001) 5.51
Glanzmann's thrombasthenia: the spectrum of clinical disease. Blood (1990) 3.02
The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics (1981) 2.64
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet (1996) 2.53
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. Blood (2001) 2.52
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet (1996) 2.47
Bernard-Soulier syndrome. Blood (1998) 2.29
Folding of the N-terminal, ligand-binding region of integrin alpha-subunits into a beta-propeller domain. Proc Natl Acad Sci U S A (1997) 2.27
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Haematologica (2007) 2.23
Chediak-Higashi syndrome. Curr Opin Hematol (2008) 2.23
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet (2000) 2.08
Clinical course of patients with WASP gene mutations. Blood (2003) 2.06
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol Genet Metab (1999) 1.91
Inherited thrombocytopenia: when a low platelet count does not mean ITP. Blood (2003) 1.87
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet (2001) 1.80
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. J Am Soc Nephrol (2002) 1.79
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood (2004) 1.78
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood (1997) 1.77
Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases. Thromb Haemost (2003) 1.73
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet (2003) 1.69
The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet A (2004) 1.65
The gray platelet syndrome: clinical spectrum of the disease. Blood Rev (2006) 1.59
Deficiency in the Wiskott-Aldrich protein induces premature proplatelet formation and platelet production in the bone marrow compartment. Blood (2006) 1.56
The P2 receptors and congenital platelet function defects. Semin Thromb Hemost (2005) 1.53
Analysis of GPIIb/IIIa receptor number by quantification of 7E3 binding to human platelets. Blood (1996) 1.52
Mediterranean macrothrombocytopenia. Blood (1975) 1.47
Nucleotide receptor signaling in platelets. J Thromb Haemost (2006) 1.42
The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis. Hum Mol Genet (2004) 1.40
Thrombocytoasthenia and thrombocytopathia-old names and new diseases. Blood (1956) 1.39
Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding. Proc Natl Acad Sci U S A (2003) 1.38
X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. Blood (2007) 1.38
Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. Proc Natl Acad Sci U S A (1991) 1.37
Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res (2002) 1.37
Ligand binding to integrin alphaIIbbeta3 is dependent on a MIDAS-like domain in the beta3 subunit. J Biol Chem (1996) 1.37
Molecular basis of Glanzmann's Thrombasthenia and current strategies in treatment. Blood Rev (2002) 1.31
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet (1995) 1.29
Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. Hum Mol Genet (1995) 1.26
Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. Hum Mol Genet (1995) 1.21
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet (1998) 1.20
Mapping of a gene for May-Hegglin anomaly to chromosome 22q. Hum Genet (1999) 1.19
The P2 receptors in platelet function. Semin Thromb Hemost (2005) 1.17
[Not Available]. Sem Hop (1948) 1.14
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood (2001) 1.14
The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). J Biol Chem (2004) 1.13
A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site. J Biol Chem (1992) 1.10
The use of desmopressin as a hemostatic agent: a concise review. Am J Hematol (2007) 1.07
Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. Blood (1988) 1.06
New strategies for the optimal use of platelet transfusions. Hematology Am Soc Hematol Educ Program (2008) 1.04
Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR). Br J Haematol (1998) 1.02
Impaired megakaryocytopoiesis in type 2B von Willebrand disease with severe thrombocytopenia. Blood (2006) 1.02
Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator. Blood (2001) 1.02
The glycoprotein Ib-IX-V complex in platelet adhesion and signaling. Thromb Haemost (1999) 1.01
Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet (2000) 1.00
Novel molecular defect in the platelet ADP receptor P2Y12 of a patient with haemorrhagic diathesis. Clin Chem Lab Med (2007) 0.98
Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta. Genet Med (2003) 0.97
Scott syndrome: a disorder of platelet coagulant activity. Semin Hematol (1994) 0.95
A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics. Mol Genet Metab (2001) 0.94
Congenital macrothrombocytopenias. Blood Rev (2005) 0.94
Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome. Blood (2000) 0.93
A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. Blood (2005) 0.92
The Wiskott-Aldrich syndrome: disordered actin dynamics in haematopoietic cells. Immunol Rev (2000) 0.91
Platelet ultrastructural morphometry for diagnosis of partial delta-storage pool disease in patients with mild platelet dysfunction and/or thrombocytopenia of unknown origin. A study of 24 cases. Haematologica (2000) 0.89
The molecular genetics of Glanzmann's thrombasthenia. Platelets (1998) 0.89
Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. Blood (2004) 0.88
Electron microscopic and functional studies on platelets in gray platelet syndrome. Tohoku J Exp Med (1984) 0.88
Genetic thrombocytopenia with autosomal dominant transmission: a review of 54 cases. Br J Haematol (1990) 0.87
Characterization of the ATPase cycle of human ABCA1: implications for its function as a regulator rather than an active transporter. Biochem Biophys Res Commun (2001) 0.86
Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. Thromb Haemost (2002) 0.86
Chediak-Higashi lymphoblastoid cell lines: granule characteristics and expression of lysosome-associated membrane proteins. Clin Immunol Immunopathol (1992) 0.86
Quebec platelet disorder: features, pathogenesis and treatment. Blood Coagul Fibrinolysis (2008) 0.85
Bone marrow transplantation in severe Glanzmann's thrombasthenia with antiplatelet alloimmunization. Bone Marrow Transplant (2000) 0.84
A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier Syndrome (BSS). Thromb Haemost (2005) 0.83
Biosynthesis and intracellular post-translational processing of normal and mutant platelet glycoprotein GPIb-IX. Biochem J (2001) 0.82
Compound heterozygosity (554-589 del, C515-T transition) in the platelet glycoprotein Ib alpha gene in a patient with a severe bleeding tendency. Thromb Haemost (1999) 0.82
WASP and the phenotypic range associated with deficiency. Curr Opin Allergy Clin Immunol (2005) 0.81
Recombinant activated factor VII in patients at high risk of bleeding. Hematology (2005) 0.81
Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran. Platelets (2007) 0.80
Use of DDAVP in inherited and acquired platelet dysfunction. Am J Hematol (1990) 0.79
Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency. Haematologica (2004) 0.76
Glanzmann thrombasthenia and Bernard-Soulier syndrome in south Iran. Clin Lab Haematol (2005) 0.76
Inherited disorders of platelet alpha-granules. Platelets (1997) 0.76
Glanzmann's thrombasthenia: modulation of clinical phenotype by alpha2C807T gene polymorphism. Haematologica (2003) 0.76
A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin. Blood (2004) 4.70
Insight into the nature of the CRP-coronary event association using Mendelian randomization. Int J Epidemiol (2006) 2.70
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
Risk factors and clinical presentation of portal vein thrombosis in patients with liver cirrhosis. J Hepatol (2004) 1.62
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
Mutation analysis in hyperphenylalaninemia patients from South Italy. Clin Biochem (2013) 1.44
Clinical relevance of inherited thrombophilia in implantation failure: who needs to be screened? Haematologica (2003) 1.42
F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis. Blood (2012) 1.31
Prognostic factors in noncirrhotic patients with splanchnic vein thromboses. Am J Gastroenterol (2007) 1.13
Polymorphisms in factor II and factor VII genes modulate oral anticoagulation with warfarin. Haematologica (2004) 1.12
Prevention and treatment of bleeding complications in patients receiving vitamin K antagonists, Part 1: Prevention. Am J Hematol (2009) 1.11
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
Impact of prothrombotic mutations and family history on the occurrence of intra-uterine fetal deaths. Haematologica (2002) 0.99
The COX-2 G/C -765 polymorphism may modulate the occurrence of cerebrovascular ischemia. Blood Coagul Fibrinolysis (2006) 0.94
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. Mol Vis (2009) 0.93
Haplotype M2 in the annexin A5 (ANXA5) gene and the occurrence of obstetric complications. Thromb Haemost (2009) 0.91
Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study. Hum Mutat (2005) 0.90
Eosinophilia and thrombophilia in churg strauss syndrome: a clinical and pathogenetic overview. Clin Appl Thromb Hemost (2009) 0.89
Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA). Mol Genet Metab (2008) 0.87
Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. Thromb Haemost (2002) 0.86
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
Occurrence of the JAK2 V617F mutation in the Budd-Chiari syndrome. Blood Coagul Fibrinolysis (2008) 0.85
Methylarginines and mortality in patients with end stage renal disease: a prospective cohort study. Atherosclerosis (2009) 0.85
Methylenetetrahydrofolate reductase and angiotensin converting enzyme gene polymorphisms in two genetically and diagnostically distinct cohort of Alzheimer patients. Neurobiol Aging (2003) 0.84
Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strength. Thromb Haemost (2002) 0.84
Annexin V expression in human placenta is influenced by the carriership of the common haplotype M2. Fertil Steril (2008) 0.84
The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene. Invest Ophthalmol Vis Sci (2011) 0.83
Gene polymorphisms and sport attitude in Italian athletes. Genet Test Mol Biomarkers (2011) 0.83
Antithrombotic prophylaxis during pregnancy in women with deficiency of natural anticoagulants. Blood Coagul Fibrinolysis (2008) 0.83
Sex modulation of the occurrence of jak2 v617f mutation in patients with splanchnic venous thrombosis. Thromb Res (2011) 0.83
Relevance of interleukin-1 receptor antagonist intron-2 polymorphism in ischemic stroke. Cerebrovasc Dis (2003) 0.83
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
A novel mutation of gene CBFA1/RUNX2 in cleidocranial dysplasia. Ann Clin Lab Sci (2007) 0.82
Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family. Prenat Diagn (2005) 0.82
Inherited abnormalities of fibrinogen: 10-year clinical experience of an Italian group. Blood Coagul Fibrinolysis (2006) 0.82
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
The haplotype M2 within the ANXA5 gene is independently associated with the occurrence of deep venous thrombosis. Thromb Haemost (2010) 0.81
Homocysteine metabolism in families from southern Italy with neural tube defects: role of genetic and nutritional determinants. Prenat Diagn (2006) 0.81
Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation. Haematologica (2004) 0.81
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
A new JAK2 gene mutation in patients with polycythemia vera and splanchnic vein thrombosis. Blood (2007) 0.81
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
Oral anticoagulants: Pharmacogenetics Relationship between genetic and non-genetic factors. Blood Rev (2008) 0.81
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
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
The risk of occurrence of venous thrombosis: focus on protein Z. Thromb Res (2011) 0.80
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
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
Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene. PLoS One (2013) 0.80
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
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
Perceived challenges and attitudes to regimen and product selection from Italian haemophilia treaters: the 2013 AICE survey. Haemophilia (2014) 0.79
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
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia. Blood (2013) 0.79
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology. Clin Chem (2002) 0.79
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
McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family. Indian J Hum Genet (2011) 0.78
Genetic basis of thrombosis. Clin Chem Lab Med (2010) 0.78
Elevated plasma activator inhibitor 1 is not related to insulin resistance and to gene polymorphism in healthy centenarians. Atherosclerosis (2002) 0.78
Homocysteine levels in amniotic fluid. Relationship with birth-weight. Thromb Haemost (2006) 0.78
Protein Z levels and unexplained fetal losses. Fertil Steril (2004) 0.78
Gain-of-function gene mutations and venous thromboembolism: distinct roles in different clinical settings. J Med Genet (2007) 0.78
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
Inherited thrombophilia and gestational vascular complications. Best Pract Res Clin Haematol (2003) 0.77
Protein Z g-42a variant and the risk of pregnancy-related venous thromboembolism in a cohort of Italian patients. Thromb Res (2009) 0.77
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
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
Increased plasma prothrombin concentration in cirrhotic patients with portal vein thrombosis and prothrombin G20210A mutation. Thromb Haemost (2006) 0.76
Venous thrombosis in oral contraceptive users and the presence of the JAK2 V617F mutation. Thromb Haemost (2008) 0.76
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
Lower birth-weight in neonates of mothers carrying factor V G1691A and factor II A(20210) mutations. Haematologica (2002) 0.76
Does endothelial nitric oxide synthase gene variation play a role in the occurrence of hypertension in pregnancy? Hypertens Pregnancy (2003) 0.76
Fetal sex identification in maternal plasma by means of short tandem repeats on chromosome x. Ann N Y Acad Sci (2008) 0.76
Glanzmann's thrombasthenia: modulation of clinical phenotype by alpha2C807T gene polymorphism. Haematologica (2003) 0.76
De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema. J Allergy Clin Immunol (2013) 0.76
Chronic thromboembolic pulmonary hypertension. Neth Heart J (2015) 0.75
Family history of VTE: an easy tool to score the individual risk. Thromb Haemost (2013) 0.75
Correlation between factors involved in the local haemostasis and angiogenesis in full term human placenta. Thromb Res (2008) 0.75
How to handle low-molecular-weight heparins in patients with decreased renal function: an open issue. Intern Emerg Med (2008) 0.75
Hereditary protein C deficiency and thrombosis risk: genotype and phenotype relation in a large Italian family. Eur J Haematol (2012) 0.75
Thrombophilia polymorphisms and intrauterine growth restriction. N Engl J Med (2002) 0.75
Janus kinase-2 mutation, cirrhosis and splanchnic vein thrombosis. Eur J Gastroenterol Hepatol (2008) 0.75
Maternal and fetal inherited thrombophilias. Am J Obstet Gynecol (2002) 0.75
Identification of six novel mutations in type I antithrombin deficient Italian families. Haematologica (2004) 0.75
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
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
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
Homocysteine and antiphospholipid antibodies in a woman undergoing ovarian follicular stimulation: prospective clinical and laboratory evaluation. Am J Obstet Gynecol (2004) 0.75
Common variants in the thrombomodulin gene as a risk for myocardial infarction in the north of Europe (HIFMECH Study). Thromb Haemost (2004) 0.75
An unreported mutation within protein Z gene is associated with very low protein levels in women with fetal loss. Fertil Steril (2008) 0.75
A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions. Blood Coagul Fibrinolysis (2008) 0.75
Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: a possible synergic effect? Hemoglobin (2009) 0.75
Effects of ethylene oxide and steam sterilization on dialysis-induced cytokine release by cuprophan membrane. Artif Organs (2002) 0.75
Adverse outcome in women with thrombophilia and bilateral uterine artery notches. Fertil Steril (2006) 0.75