F Peyvandi

Summary

Affiliation: University of Milan
Country: Italy

Publications

  1. ncbi Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity
    Flora Peyvandi
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, IRCCS Maggiore Hospital, Mangiagalli, Regina Elena Foundation and University of Milan, Milan, Italy
    Hum Mutat 27:330-6. 2006
  2. doi Nonsense-mediated mRNA decay in the ADAMTS13 gene caused by a 29-nucleotide deletion
    Isabella Garagiola
    Angelo Bianchi, Bonomi Hemophilia and Thrombosis, Centre, University of Milan, Department of Medicine and Medical Specialities, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, Luigi Villa Foundation, Milan, Italy
    Haematologica 93:1678-85. 2008
  3. ncbi FRETS-VWF73 rather than CBA assay reflects ADAMTS13 proteolytic activity in acquired thrombotic thrombocytopenic purpura patients
    I Mancini
    Prof Flora Peyvandi, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Department of Pathophysiology and Transplantation, Università degli Studi di Milano and Luigi Villa Foundation, Via Pace 9, 20122, Milan, Italy, Tel 39 02 5503 5414, Fax 39 02 54 100 125, E mail
    Thromb Haemost 112:297-303. 2014
  4. pmc Prevalence of disease and relationships between laboratory phenotype and bleeding severity in platelet primary secretion defects
    Luca A Lotta
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano and Fondazione Luigi Villa, Milan, Italy
    PLoS ONE 8:e60396. 2013
  5. doi Rare bleeding disorders: worldwide efforts for classification, diagnosis, and management
    Flora Peyvandi
    A Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
    Semin Thromb Hemost 39:579-84. 2013
  6. doi Future of coagulation factor replacement therapy
    F Peyvandi
    Angelo Bianchi Bonomi Haemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
    J Thromb Haemost 11:84-98. 2013
  7. doi Epidemiology and treatment of congenital fibrinogen deficiency
    Flora Peyvandi
    Hemophilia and Thrombosis Center, University of Milan, Italy
    Thromb Res 130:S7-11. 2012
  8. doi Rare bleeding disorders
    Flora Peyvandi
    A Bianchi Bonomi Haemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano and Luigi Villa Foundation, Milan, Italy
    Haemophilia 18:148-53. 2012
  9. pmc Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes
    Luca A Lotta
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, U O S Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Universita degli Studi di Milano, Milan, Italy
    BMC Med Genomics 5:7. 2012
  10. doi Management of bleeding disorders in adults
    F Peyvandi
    U O S Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie, A Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione I R C C S Ca Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano and Luigi Villa Foundation, Milan, Italy
    Haemophilia 18:24-36. 2012

Detail Information

Publications119 found, 100 shown here

  1. ncbi Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity
    Flora Peyvandi
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, IRCCS Maggiore Hospital, Mangiagalli, Regina Elena Foundation and University of Milan, Milan, Italy
    Hum Mutat 27:330-6. 2006
    ....
  2. doi Nonsense-mediated mRNA decay in the ADAMTS13 gene caused by a 29-nucleotide deletion
    Isabella Garagiola
    Angelo Bianchi, Bonomi Hemophilia and Thrombosis, Centre, University of Milan, Department of Medicine and Medical Specialities, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, Luigi Villa Foundation, Milan, Italy
    Haematologica 93:1678-85. 2008
    ..This mechanism is intron-dependent and functions as a quality control mechanism to eliminate abnormal transcripts and modulates the levels of a variety of naturally occurring transcripts...
  3. ncbi FRETS-VWF73 rather than CBA assay reflects ADAMTS13 proteolytic activity in acquired thrombotic thrombocytopenic purpura patients
    I Mancini
    Prof Flora Peyvandi, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Department of Pathophysiology and Transplantation, Università degli Studi di Milano and Luigi Villa Foundation, Via Pace 9, 20122, Milan, Italy, Tel 39 02 5503 5414, Fax 39 02 54 100 125, E mail
    Thromb Haemost 112:297-303. 2014
    ..Our results support the use of FRETS-VWF73 over CBA assay for the assessment of ADAMTS13 severe deficiency and indicate urea as one cause of the observed differences. ..
  4. pmc Prevalence of disease and relationships between laboratory phenotype and bleeding severity in platelet primary secretion defects
    Luca A Lotta
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano and Fondazione Luigi Villa, Milan, Italy
    PLoS ONE 8:e60396. 2013
    ..The prevalence of platelet primary secretion defects (PSD) among patients with bleeding diathesis is unknown. Moreover, there is paucity of data on the determinants of bleeding severity in PSD patients...
  5. doi Rare bleeding disorders: worldwide efforts for classification, diagnosis, and management
    Flora Peyvandi
    A Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
    Semin Thromb Hemost 39:579-84. 2013
    ..To overcome these limitations, new strategies are therefore necessary, such as the establishment of global collaborations and networks among treatment centers, as well as increasing support provided by public health organizations. ..
  6. doi Future of coagulation factor replacement therapy
    F Peyvandi
    Angelo Bianchi Bonomi Haemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
    J Thromb Haemost 11:84-98. 2013
    ....
  7. doi Epidemiology and treatment of congenital fibrinogen deficiency
    Flora Peyvandi
    Hemophilia and Thrombosis Center, University of Milan, Italy
    Thromb Res 130:S7-11. 2012
    ..Although basic guidelines have been developed, further studies are needed to help optimize treatment in different patient groups under different clinical circumstances and to improve our understanding of thrombotic events...
  8. doi Rare bleeding disorders
    Flora Peyvandi
    A Bianchi Bonomi Haemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano and Luigi Villa Foundation, Milan, Italy
    Haemophilia 18:148-53. 2012
    ..In this review, we describe the general features and recent advances in understanding three such deficiencies: FXI, FVII and fibrinogen deficiencies...
  9. pmc Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes
    Luca A Lotta
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, U O S Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Universita degli Studi di Milano, Milan, Italy
    BMC Med Genomics 5:7. 2012
    ....
  10. doi Management of bleeding disorders in adults
    F Peyvandi
    U O S Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie, A Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione I R C C S Ca Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano and Luigi Villa Foundation, Milan, Italy
    Haemophilia 18:24-36. 2012
    ..Will study, current evidence relating to economic aspects of the treatment of haemophilic patients with inhibitors (based on the PROFIT study), and an overview of musculoskeletal complications in adults with severe bleeding disorders...
  11. doi Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders
    F Peyvandi
    UOS Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie, A Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano and Luigi Villa Foundation, Milan, Italy
    J Thromb Haemost 10:615-21. 2012
    ..The European Network of Rare Bleeding Disorders (EN-RBD) was established to bridge the gap between knowledge and practise in the care of patients with RBDs...
  12. doi Prenatal diagnosis and preimplantation genetic diagnosis: novel technologies and state of the art of PGD in different regions of the world
    F Peyvandi
    U O S Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie, A Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano and Luigi Villa Foundation, Milan, Italy
    Haemophilia 17:14-7. 2011
    ..Nevertheless, its extension to some new and non-medical indications has raised ethical concerns, in particular its potential eugenic dimension...
  13. ncbi CYP2C9 genotypes and dose requirements during the induction phase of oral anticoagulant therapy
    Flora Peyvandi
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Via Pace 9, 20122 Milan, Italy
    Clin Pharmacol Ther 75:198-203. 2004
    ..However, little information is available on the effect of CYP2C9 polymorphisms on dose requirements during the most critical step of anticoagulant therapy, the induction phase...
  14. doi Results of an international, multicentre pharmacokinetic trial in congenital fibrinogen deficiency
    Flora Peyvandi
    Department of Internal Medicine and Haematology, IRCCS Maggiore Hospital, Mangiagalli and Reina Elena Foundation, Milan, Italy
    Thromb Res 124:S9-11. 2009
    ..The concentrate was well tolerated and there were no treatment-related adverse events or evidence of viral transmission during the study...
  15. doi ADAMTS13 and anti-ADAMTS13 antibodies as markers for recurrence of acquired thrombotic thrombocytopenic purpura during remission
    Flora Peyvandi
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, University of Milan, Department of Medicine and Medical Specialities, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, Luigi Villa Foundation, Milan, Italy
    Haematologica 93:232-9. 2008
    ..From 20 to 50% of patients who survive an acute episode of the acquired form of thrombotic thrombocytopenic purpura relapse but clinical and laboratory markers of recurrence are not well established...
  16. ncbi Carrier detection and prenatal diagnosis of hemophilia in developing countries
    Flora Peyvandi
    Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre, Fondazione Luigi Villa, IRCCS Maggiore Hospital and University of Milan, Milan, Italy
    Semin Thromb Hemost 31:544-54. 2005
    ..This article suggests the possibilities of genetic diagnosis and a feasible strategy for carrier detection and prenatal diagnosis in families with hemophilia A and B in developing countries...
  17. ncbi The P303T mutation in the human factor VII (FVII) gene alters the conformational state of the enzyme and causes a severe functional deficiency
    Flora Peyvandi
    Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre, Fondazione Luigi Villa, IRCCS Maggiore Hospital and University of Milan, 9 20122 Milan, Italy
    Br J Haematol 127:576-84. 2004
    ..Altogether, these defects may explain the severe bleeding symptoms in a patient carrying the FVIIP303T mutation...
  18. doi Post-partum hemorrhage in women with rare bleeding disorders
    Flora Peyvandi
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Luigi Villa Foundation, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico and Università degli Studi di Milano, Milan, Italy
    Thromb Res 127:S116-9. 2011
    ....
  19. doi Management of pregnancy and delivery in women with inherited bleeding disorders
    Flora Peyvandi
    U O S Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie, A Bianchi Bonomi Haemophilia and Thrombosis Centre, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano and Luigi Villa Foundation, Milan, Italy
    Semin Fetal Neonatal Med 16:311-7. 2011
    ..A multidisciplinary team of obstetricians, haematologists and paediatricians is required with a good knowledge of these disorders and an awareness of the potential maternal neonatal complications...
  20. doi Gynecological and obstetrical manifestations of inherited bleeding disorders in women
    F Peyvandi
    UOS Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie, A Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Universita degli Studi di Milano, Luigi Villa Foundation, Milan, Italy
    J Thromb Haemost 9:236-45. 2011
    ..Moreover, reliable information on clinical management is scarce, only a few available long term prospective studies of large cohorts provide evidence-based guideline about diagnosis and treatment...
  21. ncbi Role of the 2 adenine (g.11293_11294insAA) insertion polymorphism in the 3' untranslated region of the factor VII (FVII) gene: molecular characterization of a patient with severe FVII deficiency
    F Peyvandi
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione Luigi Villa, IRCCS Foundation Maggiore Hospital, Mangiagalli and Regina Elena and University of Milan, Milan, Italy
    Hum Mutat 26:455-61. 2005
    ..The insertion polymorphism in the 3' untranslated region of F7 is another modifier of FVII expression that might explain the poor genotype-phenotype correlation in some FVII-deficient patients...
  22. ncbi Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency
    Flora Peyvandi
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, IRCCS Maggiore Hospital and University of Milan, Italy
    Hum Mutat 23:98. 2004
    ..Energy decomposition analysis demonstrated that this situation leads to the instability and perhaps to the incorrect folding of the A subunit, that would explain the development of severe FXIII deficiency...
  23. ncbi Genetic diagnosis of haemophilia and other inherited bleeding disorders
    F Peyvandi
    Department of Medicine and Medical Specialities, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, Luigi Villa Foundation, University of Milan, Milan, Italy
    Haemophilia 12:82-9. 2006
    ..This article reviews the genetic diagnosis of haemophilia, genetics and inhibitor development, genetics of von Willebrand's disease and of rare bleeding disorders...
  24. doi Introduction. Rare bleeding disorders: general aspects of clinical features, diagnosis, and management
    Flora Peyvandi
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, University of Milan, Milan, Italy
    Semin Thromb Hemost 35:349-55. 2009
    ..In this introductory article, the main features, diagnosis, available treatment options, and treatment complications of RBDs will be discussed...
  25. ncbi Rare bleeding disorders
    F Peyvandi
    Department of Medicine and Medical Specialities, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, University of Milan, Milan, Italy
    Haemophilia 12:137-42. 2006
    ..This article reviews the genetic basis of RBDs, problems and complications of treatment, problems in the preparation of suitable guidelines for treatment and the future perspectives of the International Registry on RBDs...
  26. ncbi Gene mutations and three-dimensional structural analysis in 13 families with severe factor X deficiency
    Flora Peyvandi
    Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre, Luigi Villa Foundation, IRCCS Maggiore Hospital and University of Milan, Via Pace, 9 20122 Milan, Italy
    Br J Haematol 117:685-92. 2002
    ..These novel homozygous FX mutations were consistent with their phenotypes and agree with experimental data from knockout mice, indicating that FX is an essential protein for survival...
  27. ncbi Two naturally occurring mutations on FVII gene (S363I-W364C) altering intrinsic catalytic activity
    Flora Peyvandi
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy
    Thromb Haemost 88:750-5. 2002
    ....
  28. pmc National and international registries of rare bleeding disorders
    Flora Peyvandi
    Laboratorio di Patologia Molecolare Applicata alla Clinica, Fondazione Luigi Villa, Milano, Italia
    Blood Transfus 6:s45-8. 2008
    ..Preliminary results showed that a homogeneous and harmonized data collection using a unique model will help to have more accurate data for statistical analysis...
  29. ncbi Rare bleeding disorders
    F Peyvandi
    A Bianchi Bonomi Hemophilia and Thrombosis Center, Luigi Villa Foundation, IRCCS Maggiore Hospital, University of Milan, Milan, Italy
    Haemophilia 14:202-10. 2008
    ..Finally, the update of the Rare Bleeding Disorders Database will be presented by Dr Spreafico...
  30. doi ADAMTS-13 assays in thrombotic thrombocytopenic purpura
    F Peyvandi
    Department of Medicine and Medical Specialities, Angelo Bianchi Bonomi Hemophilia and Thrombosis Centre, Fondazione IRCCS Ca Granda, Ospedale Maggiore Policlinico, Universita degli Studi di Milano, Luigi Villa Foundation, Milan, Italy
    J Thromb Haemost 8:631-40. 2010
    ..In the last few years, a number of in house and commercial laboratory assays for ADAMTS-13 and its autoantibodies have been developed. The features and clinical utility of ADAMTS-13 assays are summarized in this review...
  31. ncbi Abnormal secretion and function of recombinant human factor VII as the result of modification to a calcium binding site caused by a 15-base pair insertion in the F7 gene
    F Peyvandi
    Hematology Section, Department of Medicine, VA Boston Healthcare System, Harvard Medical School, Boston, MA, USA
    Blood 97:960-5. 2001
    ..These results demonstrate that a combination of secretion and functional defects is the mechanism whereby this insertion causes VII deficiency...
  32. doi ADAMTS-13 activity and autoantibodies classes and subclasses as prognostic predictors in acquired thrombotic thrombocytopenic purpura
    G Bettoni
    U O S Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie, A Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano and Luigi Villa Foundation, Milan, Italy
    J Thromb Haemost 10:1556-65. 2012
    ..The predictive value of anti-ADAMTS-13 antibodies, their inhibitory activity and Ig class subtype for disease recurrence is still to be established...
  33. doi A synonymous (c.3390C>T) or a splice-site (c.3380-2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A/IIE)
    M T Pagliari
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, U O S Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano and Fondazione Luigi Villa, Milan, Italy
    J Thromb Haemost 11:1251-9. 2013
    ..We characterized four unrelated patients with von Willebrand disease type 2A/IIE, sharing the same von Willebrand factor (VWF) in-frame deletion (p.[P1127_G1180delinsR];[=]) resulting from exon 26 skipping (Δ26)...
  34. doi The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease
    P M Mannucci
    Centro Emofilia e Trombosi A Bianchi Bonomi, Scientific Direction, IRCCS Fondazione Cà Granda Ospedale Maggiore, Universita degli Studi di Milano, Milan, Italy
    J Thromb Haemost 8:2116-21. 2010
    ....
  35. ncbi Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain
    R Asselta
    Department of Biology and Genetics for Medical Sciences, University of Milan, via Viotti 3 5, 20133 Milan, Italy
    J Thromb Haemost 1:1237-44. 2003
    ..Among rare inherited coagulopathies, FV deficiency is the least characterized from a molecular point of view (only 12 mutations have been reported)...
  36. doi Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis
    L A Lotta
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano and Fondazione Luigi Villa, Via Pace 9, Milan, Italy
    J Thromb Haemost 11:1228-39. 2013
    ..The ADAMTS13 and VWF genes encode two interconnected proteins with fundamental hemostatic functions, the disruption of which may result in thrombosis...
  37. doi Combined FV and FVIII deficiency
    M Spreafico
    A Bianchi Bonomi Hemophilia and Thrombosis Center, University of Milan and Department of Medicine and Medical Specialties, IRCCS Maggiore Hospital, Milan, Italy
    Haemophilia 14:1201-8. 2008
    ..We focus here on the clinical, molecular, treatment-related and diagnostic features of F5F8D...
  38. ncbi Anti-beta 2 glycoprotein I antibodies and the risk of myocardial infarction in young premenopausal women
    P L Meroni
    Department of Internal Medicine, University of Milan, Milan, Italy
    J Thromb Haemost 5:2421-8. 2007
    ..This discrepancy is perhaps related to the confounding effect of traditional risk factors. Among them, coronary atherosclerosis appears to be the most important in studies conducted in middle-aged and elderly patients...
  39. ncbi Autosomal recessive deficiencies of coagulation factors
    F Peyvandi
    The Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital, University of Milano, Via Pace 9, 20122 Milan, Italy
    Rev Clin Exp Hematol 5:369-88. 2001
    ..This article reviews these disorders, in terms of clinical manifestations and characterization of the molecular defects. The general principles of management are also discussed...
  40. ncbi Gene polymorphisms predicting high plasma levels of coagulation and fibrinolysis proteins. A study in centenarians
    P M Mannucci
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital, Italy
    Arterioscler Thromb Vasc Biol 17:755-9. 1997
    ..Homozygosity for the 4G allele, despite its association with impaired fibrinolysis, is compatible with successful aging...
  41. ncbi Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites
    Silvia Spena
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    Blood 100:4478-84. 2002
    ..Both mutations are predicted to determine protein truncations, supporting the importance of the C-terminal domain of the Bbeta chain for fibrinogen assembly and secretion...
  42. doi Non-invasive tool for foetal sex determination in early gestational age
    M Mortarino
    UOS Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, University of Milan and Luigi Villa Foundation, Milan, Italy
    Haemophilia 17:952-6. 2011
    ....
  43. doi Gynaecological and obstetrical problems in women with different bleeding disorders
    S M Siboni
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, University of Milan and Department of Medicine and Medical Specialties, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, Lugi Villa Foundation, Milan, Italy
    Haemophilia 15:1291-9. 2009
    ..These instruments may help to identify those women for whom a therapeutic intervention is warranted...
  44. ncbi Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion
    Manuela Platè
    Department of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti, 3 5 20133 Milan, Italy
    Blood Cells Mol Dis 41:292-7. 2008
    ..Both mutations were demonstrated to cause a severe impairment of intracellular fibrinogen processing, either by affecting half-molecule dimerization (alphaCys45Phe) or by hampering hexamer secretion (gammaAsn345Ser)...
  45. ncbi Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia
    Rosanna Asselta
    Department of Biology and Genetics for Medical Sciences, University of Milan, via Viotti 3 5, 20133 Milan, Italy
    Haematologica 87:855-9. 2002
    ..The aim of this work was to widen knowledge about the mutational spectrum of this disease by analyzing the molecular bases of congenital afibrinogenemia in three unrelated Iranian patients...
  46. ncbi Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations
    Maria Claudia Montefusco
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    Blood 102:3210-6. 2003
    ..The high number of "private" mutations identified in FV-deficient families indicates that full mutational screening of FV gene is still required for molecular diagnosis...
  47. ncbi Molecular and functional characterization of a natural homozygous Arg67His mutation in the prothrombin gene of a patient with a severe procoagulant defect contrasting with a mild hemorrhagic phenotype
    Sepideh Akhavan
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital University of Milan, Milan, Italy
    Blood 100:1347-53. 2002
    ..The mild hemorrhagic phenotype might be explained by abnormalities that ultimately counterbalance each other...
  48. ncbi Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein
    Stefano Duga
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    Blood 101:173-7. 2003
    ..These findings, beside confirming the structural and functional importance of the arginine 2074 residue, demonstrate that its substitution with a cysteine impairs both FV secretion and activity...
  49. doi Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency
    E M Paraboschi
    Dipartimento di Biologia e Genetica per Scienze Mediche, Universita degli Studi di Milano, Milan, Italy
    Haemophilia 18:205-10. 2012
    ..The Pro132Arg mutation adds to the only other two functionally characterized missense defects in the FV A1 domain...
  50. doi Platelet reactive conformation and multimeric pattern of von Willebrand factor in acquired thrombotic thrombocytopenic purpura during acute disease and remission
    L A Lotta
    UOS Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie, Angelo Bianchi Bonomi Hemophilia and Thrombosis Centre and Scientific Direction, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Fondazione Luigi Villa, Universita degli Studi di Milano, Milan, Italy
    J Thromb Haemost 9:1744-51. 2011
    ..Binding of von Willebrand factor (VWF) multimers of ultra-large size to platelets is considered the triggering mechanism of microvascular thrombosis in thrombotic thrombocytopenic purpura (TTP)...
  51. ncbi Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs
    R Asselta
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    Blood 98:3685-92. 2001
    ..Moreover, ex vivo analysis at the protein level demonstrated that the presence of each mutation was sufficient to abolish fibrinogen secretion...
  52. ncbi Mutational screening of six afibrinogenemic patients: identification and characterization of four novel molecular defects
    Luca Monaldini
    Department of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti, Milan, Italy
    Thromb Haemost 97:546-51. 2007
    ..The molecular characterization of CAF-causing genetic defects increases our understanding on the genetic basis of this disease and might be helpful for prenatal screening purposes, as also demonstrated during this study...
  53. ncbi A two-centre comparative evaluation of new automated assays for von Willebrand factor ristocetin cofactor activity and antigen
    F Stufano
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda, Ospedale Maggiore Policlinico, Milan, Italy
    Haemophilia 20:147-53. 2014
    ..4.4 IU dL(-1) respectively). The TOP500 and AcuStar VWF:Ag and VWF:RCo assays were precise and compare well between centres, making these systems suitable for the diagnosis of VWD in non-specialized and reference laboratories...
  54. doi Measurement and prevalence of circulating ADAMTS13-specific immune complexes in autoimmune thrombotic thrombocytopenic purpura
    L A Lotta
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Fondazione Luigi Villa and Department of Pathophysiology and Transplantation, Universita degli Studi di Milano, Milan, Italy
    J Thromb Haemost 12:329-36. 2014
    ..The formation of ADAMTS13-specific circulating immune complexes (CICs) may be a pathophysiologic mechanism in autoimmune thrombotic thrombocytopenic purpura (TTP), but has not been systematically investigated...
  55. ncbi Tissue plasminogen activator antigen is strongly associated with myocardial infarction in young women
    P M Mannucci
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione Luigi Villa and Department of Internal Medicine and Dermatology, IRCCS Maggiore Hospital and University of Milano, Milano, Italy
    J Thromb Haemost 3:280-6. 2005
    ..66-25.20), respectively. In conclusion, there is a strong association between non-fatal AMI and increased plasma levels of tPA antigen. This finding is thought to be the expression of a reduced rather than enhanced fibrinolytic activity...
  56. doi Central nervous system bleeding in patients with rare bleeding disorders
    S M Siboni
    Centro Emofilia e Trombosi A Bianchi Bonomi, Dipartimento di Medicina Interna e Specialita Mediche, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico di Milano, Universita degli Studi di Milano, Milano, Italy
    Haemophilia 18:34-8. 2012
    ..Our results indicate that some RBDs require early prophylactic treatment to prevent CNS bleeding. Optimal dosage and frequency of treatment need further evaluation...
  57. doi Factor VIII products and inhibitor development: the SIPPET study (survey of inhibitors in plasma-product exposed toddlers)
    P M Mannucci
    A Bianchi Bonomi Hemophilia and Thrombosis Centre, Department of Medicine and Medical Specialties, University of Milan, Italy
    Haemophilia 13:65-8. 2007
  58. ncbi Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia
    Rosanna Asselta
    Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy
    Blood 103:3051-4. 2004
    ..This represents the first exonic splicing mutation identified in the fibrinogen genes. These findings strengthen the importance to analyze potentially pathogenetic nucleotide variations at both the protein and the mRNA level...
  59. ncbi Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient
    Manuela Platè
    Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy
    Biochim Biophys Acta 1772:781-7. 2007
    ..Western blot analysis on the proband's plasma confirmed the presence in vivo of the trimeric fibrinogen, supporting the hypothesis that Met51Arg prevents the final step of fibrinogen assembly...
  60. doi Combined Factor V and Factor VIII Deficiency
    Marta Spreafico
    A Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Medicine and Medical Specialties, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, University of Milan, 20122 Milan, Italy
    Semin Thromb Hemost 35:390-9. 2009
    ....
  61. ncbi Measurement of anti-ADAMTS13 neutralizing autoantibodies: a comparison between CBA and FRET assays
    I Mancini
    U O S Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie, A Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione I R C C S Ca Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano and Luigi Villa Foundation, Milan, Italy
    J Thromb Haemost 10:1439-42. 2012
    ..To cite this article: Mancini I, Valsecchi C, Palla R, Lotta LA, Peyvandi F. Measurement of anti-ADAMTS13 neutralizing autoantibodies: a comparison between CBA and FRET assays. J Thromb Haemost 2012; 10: 1439-42...
  62. doi Integrated postural analysis in children with haemophilia
    E Boccalandro
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Centre, Milan, Italy
    Haemophilia 20:263-7. 2014
    ....
  63. ncbi Molecular characterization of a multiethnic group of 21 patients with type 3 von Willebrand disease
    L Baronciani
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, IRCCS Maggiore Hospital and University of Milan, Italy
    Thromb Haemost 84:536-40. 2000
    ..Our results indicate that molecular defects responsible for type 3 VWD are scattered throughout the entire VWF gene (from exon 3 to 52), and that there is no prevalent and common gene defect in the three populations studied by us...
  64. ncbi Prospective study on the behaviour of the metalloprotease ADAMTS13 and of von Willebrand factor after bone marrow transplantation
    F Peyvandi
    Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre, University of Milan, Luigi Villa Foundation, Department of Medicine and Medical Specialities, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, Milan, Italy
    Br J Haematol 134:187-95. 2006
    ..Hence, the measurements evaluated in this study are not clinically useful to predict the occurrence of post-BMT TMA...
  65. doi ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura
    Luca A Lotta
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Universita degli Studi di Milano, Department of Medicine and Medical Specialities, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, Luigi Villa Foundation, Milan, Italy
    Hum Mutat 31:11-9. 2010
    ..Even if data from the literature suggest the existence of genotype-phenotype correlations, a clear relationship between the type and the effect of ADAMTS13 genetic defects with disease manifestations remains to be established...
  66. doi Factor V deficiency
    Rosanna Asselta
    Department of Biology and Genetics for Medical Sciences, University of Milan, 20133 Milan, Italy
    Semin Thromb Hemost 35:382-9. 2009
    ..This article will provide a concise description of the FV protein and gene and will review the molecular, clinical, and therapeutic aspects of FV deficiency...
  67. ncbi Effects of CYP2C9 and VKORC1 on INR variations and dose requirements during initial phase of anticoagulant therapy
    Marta Spreafico
    A Bianchi Bonomi Hemophilia and Thrombosis Center, University of Milan and Department of Medicine and Medical Specialties, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, Via Pace 9, 20122 Milan, Italy
    Pharmacogenomics 9:1237-50. 2008
    ..However, they have a narrow therapeutic range and show inter- and intra-individual variability in dose requirement, largely conditioned by both environmental and genetic factors...
  68. doi Factor X deficiency
    Marzia Menegatti
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Medicine and Medical Specialties, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, University of Milan, 20122 Milan, Italy
    Semin Thromb Hemost 35:407-15. 2009
    ....
  69. ncbi Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene
    Luca Monaldini
    Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy
    Haematologica 91:628-33. 2006
    ..So far, 57 mutations have been associated with these disorders, and 18 of these are missense mutations. The aim of this study was to characterize the molecular mechanism underlying severe hypofibrinogenemia in a proband from India...
  70. pmc The thrombospondin-1 N700S polymorphism is associated with early myocardial infarction without altering von Willebrand factor multimer size
    Jeffrey I Zwicker
    Department of Pathology, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA
    Blood 108:1280-3. 2006
    ....
  71. ncbi Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene
    Silvia Spena
    Department of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti, 3 5 20133 Milan, Italy
    Biochim Biophys Acta 1639:87-94. 2003
    ..These data, besides elucidating the pathogenetic role of the W437G mutation in afibrinogenemia, underline the importance of the Bbeta-chain D domain in fibrinogen folding and secretion...
  72. ncbi Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene
    Silvia Spena
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    Eur J Hum Genet 12:891-8. 2004
    ..In silico analyses of the regions surrounding the breakpoints suggested that the 15-kb deletion might have originated from an inappropriate repair of a double-strand break by the nonhomologous end joining mechanism...
  73. ncbi A rare inherited coagulation disorder: combined homozygous factor VII and factor X deficiency
    Marzia Menegatti
    Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre, Fondazione Luigi Villa, IRCCS Maggiore Hospital and University of Milan, Milan, Italy
    Am J Hematol 77:90-1. 2004
    ..In this kindred, lack of identification of the double coagulation defect might have led not only to incomplete understanding of the clinical phenotype but also to an incorrect prenatal diagnosis...
  74. ncbi Molecular characterization of an Italian patient with plasminogen deficiency and ligneous conjunctivitis
    Simona M Siboni
    Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre, University of Milan, Milan, Italy
    Blood Coagul Fibrinolysis 18:81-4. 2007
    ..By this simple strategy the complete sequence analysis of PLG gene was performed, and a previously reported missense homozygous mutation (K19E) was identified...
  75. ncbi von Willebrand factor cleaving protease (ADAMTS-13) and ADAMTS-13 neutralizing autoantibodies in 100 patients with thrombotic thrombocytopenic purpura
    Flora Peyvandi
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, IRCCS Maggiore Hospital and University of Milano, Milan, Italy
    Br J Haematol 127:433-9. 2004
    ..In conclusion, this study indicated that ADAMTS-13 was normal in nearly one-third of patients with TTP and that ADAMTS-13 deficiency was not associated with the presence of neutralizing antibodies in more than half of the patients...
  76. ncbi Orthopaedic surgery in patients with von Willebrand disease
    S M Siboni
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Ca Granda Maggiore Policlinico Hospital Foundation, University of Milan, Milan, Italy
    Haemophilia 20:133-40. 2014
    ....
  77. doi Fibrinogen replacement therapy for congenital fibrinogen deficiency
    L Bornikova
    Hemophilia and Thrombosis Center, Department of Medicine, University of Colorado, Aurora, CO 80045, USA
    J Thromb Haemost 9:1687-704. 2011
    ..Fibrinogen replacement therapy requires careful monitoring of fibrinogen levels. Afibrinogenemia is associated with thromboembolic complications with or without treatment...
  78. doi Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern
    Claudia Dall'Osso
    Department of Biology and Genetics for Medical Sciences, University of Milan, via Viotti 3 5, 20133 Milan, Italy
    Haematologica 93:1505-13. 2008
    ..In the present study, we investigated the molecular basis of factor V deficiency in three patients, and performed a comprehensive analysis of the factor V gene (F5) splicing pattern...
  79. ncbi Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients
    Giorgia Zadra
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    Haematologica 89:1332-40. 2004
    ..The aim of this study was to analyze the molecular basis of FXI deficiency in six unrelated Italian probands with severe deficiency, a population hitherto largely unexplored...
  80. ncbi Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients
    Luciano Baronciani
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, IRCCS Maggiore Hospital and University of Milan, Italy
    Blood Cells Mol Dis 30:264-70. 2003
    ..This study extend our previous finding that mutations responsible for type 3 VWD are scattered throughout the entire VWF gene and that there is no founder effect in these three populations studied...
  81. ncbi Pitfalls in molecular diagnosis in a family with severe factor VII (FVII) deficiency--misdiagnosis by direct sequence analysis using a PCR product
    Isabella Garagiola
    A Bianchi Bonomi Hemophilia and Thrombosis Centre, Fondazione Luigi Villa, IRCCS Maggiore Hospital Milan and University of Milan, Milan, Italy
    Prenat Diagn 23:731-4. 2003
    ..It is essential to link closely molecular data with clinical and phenotype analysis in order to avoid false-negative or false-positive results, which is of great importance to diagnosis and molecular prevention...
  82. ncbi Joint WFH-ISTH session: issues in clinical trial design
    F Peyvandi
    Department of Pathophysiology and Transplantation, Angelo Bianchi Bonomi Haemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Universita degli Studi di Milano, Luigi Villa Foundation, Milan, Italy
    Haemophilia 20:137-44. 2014
    ..These aspects will be reviewed in this session, which will also highlight the roles played by the World Federation of Hemophilia and International Society on Thrombosis and Haemostasis in the promotion of these discussions. ..
  83. doi Raised haematocrit concentration and the risk of death and vascular complications after major surgery
    K M Musallam
    Department of Internal Medicine, American University of Beirut Medical Centre, Beirut, Lebanon
    Br J Surg 100:1030-6. 2013
    ..Data on raised preoperative haematocrit concentration are limited. This study aimed to evaluate the effect of raised haematocrit on 30-day postoperative mortality and vascular events in patients undergoing major surgery...
  84. doi Second international collaborative study evaluating performance characteristics of methods measuring the von Willebrand factor cleaving protease (ADAMTS-13)
    A Tripodi
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Internal Medicine and Medical Specialties, University and IRCCS Maggiore Hospital, Milan, Italy
    J Thromb Haemost 6:1534-41. 2008
    ..Over the last 4 years ADAMTS-13 measurement underwent dramatic progress with newer and simpler methods...
  85. pmc The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura
    Roberta Palla
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Centre, University of Milan, Department of Medicine and Medical Specialities, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, Luigi Villa Foundation, Milan, Italy
    Haematologica 94:289-93. 2009
    ..This finding is consistent with the severe ADAMTS13 deficiency but does not explain the heterogeneous clinical picture of the 3 siblings carrying the same mutation...
  86. ncbi Factor XI deficiency in Iranians: its clinical manifestations in comparison with those of classic hemophilia
    Flora Peyvandi
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, IRCCS Maggiore Hospital and University of Milan, Italy
    Haematologica 87:512-4. 2002
    ..Patients affected by Hodgkin's disease (HD) resistant to induction therapy or who have a brief duration of first remission have a poor outcome...
  87. ncbi The role of ADAMTS13 in the new pathogenesis of TTP
    Flora Peyvandi
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Via Pace 9, 20122, Milan, Italy
    Hematology 10:47-8. 2005
  88. doi Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA
    Rosanna Asselta
    Dipartimento di Biologia e Genetica per le Scienze Mediche, Universita degli Studi di Milano, Milan, Italy
    Blood 115:2065-72. 2010
    ..Traces of this FXI isoform were detectable in human plasma. Our results suggest that the coupling of alternative splicing and NMD may play a role in regulating F11 expression, and point to the existence of a novel FXI isoform...
  89. doi Association and functional analyses of MEF2A as a susceptibility gene for premature myocardial infarction and coronary artery disease
    Ilaria Guella
    Department of Biology and Genetics for Medical Sciences, University of Milan, via Viotti 3 5, Milan, Italy
    Circ Cardiovasc Genet 2:165-72. 2009
    ..However, the association of MEF2A with coronary artery disease/MI was not confirmed in other studies. We analyzed the role of MEF2A in the pathogenesis of MI in 2008 Italian patients with premature MI and in 2008 controls...
  90. pmc Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
    Sekar Kathiresan
    Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Nat Genet 41:334-41. 2009
    ..SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with myocardial infarction risk...
  91. ncbi Patients with localized and disseminated tumors have reduced but measurable levels of ADAMTS-13 (von Willebrand factor cleaving protease)
    Pier Mannuccio Mannucci
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Maggiore Hospital and University of Milan, Italy
    Haematologica 88:454-8. 2003
    ..This observation, which challenges the paradigm that severe ADAMTS-13 deficiency is a specific diagnostic marker for TTP, remains so far unconfirmed...
  92. ncbi Recessively inherited coagulation disorders
    Pier Mannuccio Mannucci
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Internal Medicine and Dermatology IRCCS, Maggiore Hospital, University of Milan, Via Pace 9, 20122 Milan, Italy
    Blood 104:1243-52. 2004
    ..The steps and actions necessary to improve the condition of these often neglected patients are outlined...
  93. ncbi Thrombosis in inflammatory bowel diseases: role of inherited thrombophilia
    Luisa Spina
    Gastroenterology and Gastrointestinal Endoscopy Service, Hepatology Unit, IRCCS Maggiore Hospital, Mangiagalli, Italy
    Am J Gastroenterol 100:2036-41. 2005
    ..Although the pathogenetic mechanisms of this predisposition are unclear, a possible role of inherited risk factors for thrombosis in determining this predisposition has been suggested...
  94. ncbi Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency
    Mehran Karimi
    Hematology and Thrombosis Unit, Hematology Research Centre, Shiraz University of Medical Sciences, Shiraz, Iran
    Haematologica 93:934-8. 2008
    ..In conclusion, factor X deficiency was confirmed to be one of the most serious among rare bleeding disorders and genetically heterogeneous in different populations...
  95. ncbi Molecular characterization of a factor VII deficient patient supports the importance of the second epidermal growth factor-like domain
    Giovanna D'Andrea
    Unita di Aterosclerosi e Trombosi, I R C C S Casa Sollievo della Sofferenza, S Giovanni Rotondo, Italy
    Haematologica 89:979-84. 2004
    ..We investigated a 6-year old Italian girl who had low functional and antigenic FVII plasma levels...
  96. ncbi A natural prothrombin mutant reveals an unexpected influence of A-chain structure on the activity of human alpha-thrombin
    Raimondo De Cristofaro
    Hemostasis Research Centre, Institute of Internal Medicine and Geriatrics, Catholic University School of Medicine, Largo F Vito 1, 00168 Rome, Italy
    J Biol Chem 279:13035-43. 2004
    ....
  97. ncbi The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype
    Maurizio Margaglione
    Cattedra di Genetica Medica, Dipartimento di Scienze Biomediche, Universita degli Studi di Foggia, Viale Pinto, 71100 Foggia, Italy
    Haematologica 93:722-8. 2008
    ..We plan to identify the mutation in patients with hemophilia A in order to create a confidential national database of mutations for the optimization of genetic services in Italy...
  98. ncbi Genetics of warfarin response
    Pier M Mannucci
    N Engl J Med 358:2743; author reply 2743-4. 2008
  99. pmc Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2
    Bin Zhang
    Life Sciences Institute, Department of Internal Medicine, 210 Washtenaw Ave, Ann Arbor, MI 48109 0650, USA
    Blood 107:1903-7. 2006
    ....
  100. pmc Genotype-phenotype correlation in combined deficiency of factor V and factor VIII
    Bin Zhang
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic Foundation, OH 44195, USA
    Blood 111:5592-600. 2008
    ..These data suggest that MCFD2 may play a primary role in the export of FV and FVIII from the ER, with the impact of LMAN1 mediated indirectly through its interaction with MCFD2...
  101. pmc Mechanistic studies on ADAMTS13 catalysis
    Enrico Di Stasio
    Institute of Biochemistry and Clinical Biochemistry, Catholic University School of Medicine, Rome, Italy
    Biophys J 95:2450-61. 2008
    ....