thrombophilia

Summary

Summary: A disorder of HEMOSTASIS in which there is a tendency for the occurrence of THROMBOSIS.

Top Publications

  1. ncbi Thrombophilia in young patients with cryptogenic stroke and patent foramen ovale (PFO)
    Pietro Offelli
    Clinical Cardiology, Thrombosis Centre, University Hospital, Padova, Italy
    Thromb Haemost 98:906-7. 2007
  2. ncbi Thrombophilia, clinical factors, and recurrent venous thrombotic events
    Sverre C Christiansen
    Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
    JAMA 293:2352-61. 2005
  3. ncbi Venous thromboembolism, thrombophilia, antithrombotic therapy, and pregnancy: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines (8th Edition)
    Shannon M Bates
    Department of Medicine, McMaster University and Henderson Research Centre, Hamilton, Ontario, Canada
    Chest 133:844S-886S. 2008
  4. doi Thrombophilia, hypofibrinolysis, the eNOS T-786C polymorphism, and multifocal osteonecrosis
    Charles J Glueck
    Cholesterol Center, Jewish Hospital of Cincinnati, Cincinnati, OH 45229, USA
    J Bone Joint Surg Am 90:2220-9. 2008
  5. pmc VTE, thrombophilia, antithrombotic therapy, and pregnancy: Antithrombotic Therapy and Prevention of Thrombosis, 9th ed: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines
    Shannon M Bates
    Department of Medicine, McMaster University and Thrombosis and Atherosclerosis Research Institute, Hamilton, ON, Canada
    Chest 141:e691S-736S. 2012
  6. ncbi Increased rates of thrombophilia in women with repeated IVF failures
    Foad Azem
    Department of Obstetrics and Gynecology, Lis Maternity Hospital and Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    Hum Reprod 19:368-70. 2004
  7. ncbi Thrombophilia and venous thromboembolism. International consensus statement. Guidelines according to scientific evidence
    A N Nicolaides
    Int Angiol 24:1-26. 2005
  8. doi Low molecular weight heparin and aspirin for recurrent pregnancy loss: results from the randomized, controlled HepASA Trial
    Carl A Laskin
    University of Toronto and LifeQuest Centre for Reproductive Medicine, Toronto, Canada
    J Rheumatol 36:279-87. 2009
  9. ncbi The frequent Marburg I polymorphism impairs the pro-urokinase activating potency of the factor VII activating protease (FSAP)
    J Roemisch
    Aventis Behring GmbH, Preclinical Research and Development, Marburg, Germany
    Blood Coagul Fibrinolysis 13:433-41. 2002
  10. ncbi The role of thrombophilia and thyroid autoimmunity in unexplained infertility, implantation failure and recurrent spontaneous abortion
    Jose Bellver
    Instituto Valenciano de Infertilidad IVI, University of Valencia, Plaza de la Policia Local, 3, 46015 Valencia, Spain
    Hum Reprod 23:278-84. 2008

Research Grants

  1. NEWBORN SCREENING BY MULTIPLEX MOLECULAR ANALYSIS
    Edwin Naylor; Fiscal Year: 2002
  2. Region VII Hemophilia Program
    Brian Wicklund; Fiscal Year: 2007
  3. Region VII Hemophilia Program
    Brian M Wicklund; Fiscal Year: 2010
  4. Region VII Hemophilia Program
    Brian Wicklund; Fiscal Year: 2006
  5. Region VII Hemophilia Program
    Brian Wicklund; Fiscal Year: 2009
  6. MUTATIONS, HORMONE THERAPY, AND VENOUS THROMBOEMBOLISM
    Bruce Psaty; Fiscal Year: 2001
  7. Rare Thrombotic Diseases Clinical Research Network
    Thomas Ortel; Fiscal Year: 2005
  8. Rare Thrombotic Diseases Clinical Research Network
    Thomas Ortel; Fiscal Year: 2007
  9. Rare Thrombotic Diseases Clinical Research Network
    Thomas Ortel; Fiscal Year: 2006
  10. Rare Thrombotic Diseases Clinical Research Network
    Thomas Ortel; Fiscal Year: 2004

Detail Information

Publications330 found, 100 shown here

  1. ncbi Thrombophilia in young patients with cryptogenic stroke and patent foramen ovale (PFO)
    Pietro Offelli
    Clinical Cardiology, Thrombosis Centre, University Hospital, Padova, Italy
    Thromb Haemost 98:906-7. 2007
  2. ncbi Thrombophilia, clinical factors, and recurrent venous thrombotic events
    Sverre C Christiansen
    Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
    JAMA 293:2352-61. 2005
    Data on the recurrence rate of venous thrombotic events and the effect of several risk factors, including thrombophilia, remain controversial...
  3. ncbi Venous thromboembolism, thrombophilia, antithrombotic therapy, and pregnancy: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines (8th Edition)
    Shannon M Bates
    Department of Medicine, McMaster University and Henderson Research Centre, Hamilton, Ontario, Canada
    Chest 133:844S-886S. 2008
    This article discusses the management of venous thromboembolism (VTE) and thrombophilia, as well as the use of antithrombotic agents, during pregnancy and is part of the American College of Chest Physicians Evidence-Based Clinical ..
  4. doi Thrombophilia, hypofibrinolysis, the eNOS T-786C polymorphism, and multifocal osteonecrosis
    Charles J Glueck
    Cholesterol Center, Jewish Hospital of Cincinnati, Cincinnati, OH 45229, USA
    J Bone Joint Surg Am 90:2220-9. 2008
    We examined the hypothesis that thrombophilia, hypofibrinolysis, and the endothelial nitric oxide synthase (eNOS) T-786C polymorphism are common, potentially treatable, and similar pathophysiologic causes of multifocal (three sites or ..
  5. pmc VTE, thrombophilia, antithrombotic therapy, and pregnancy: Antithrombotic Therapy and Prevention of Thrombosis, 9th ed: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines
    Shannon M Bates
    Department of Medicine, McMaster University and Thrombosis and Atherosclerosis Research Institute, Hamilton, ON, Canada
    Chest 141:e691S-736S. 2012
    ..This guideline focuses on the management of VTE and thrombophilia as well as the use of antithrombotic agents during pregnancy.
  6. ncbi Increased rates of thrombophilia in women with repeated IVF failures
    Foad Azem
    Department of Obstetrics and Gynecology, Lis Maternity Hospital and Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    Hum Reprod 19:368-70. 2004
    We investigated whether hereditary thrombophilia is more prevalent in women with recurrent IVF-embryo transfer failures.
  7. ncbi Thrombophilia and venous thromboembolism. International consensus statement. Guidelines according to scientific evidence
    A N Nicolaides
    Int Angiol 24:1-26. 2005
    b>Thrombophilia is the term now used to describe predisposition to increased risk of venous and occasionally arterial thromboembolism due to hematological abnormalities...
  8. doi Low molecular weight heparin and aspirin for recurrent pregnancy loss: results from the randomized, controlled HepASA Trial
    Carl A Laskin
    University of Toronto and LifeQuest Centre for Reproductive Medicine, Toronto, Canada
    J Rheumatol 36:279-87. 2009
    ....
  9. ncbi The frequent Marburg I polymorphism impairs the pro-urokinase activating potency of the factor VII activating protease (FSAP)
    J Roemisch
    Aventis Behring GmbH, Preclinical Research and Development, Marburg, Germany
    Blood Coagul Fibrinolysis 13:433-41. 2002
    ..These results support the hypothesis that FSAP contributes to the scuPA-dependent plasma fibrinolytic potential, which can be impaired in plasmas containing the FSAP Marburg I polymorphism, for instance...
  10. ncbi The role of thrombophilia and thyroid autoimmunity in unexplained infertility, implantation failure and recurrent spontaneous abortion
    Jose Bellver
    Instituto Valenciano de Infertilidad IVI, University of Valencia, Plaza de la Policia Local, 3, 46015 Valencia, Spain
    Hum Reprod 23:278-84. 2008
    The role of thrombophilia and thyroid autoimmunity in unexplained infertility (UI), implantation failure (IF) and recurrent spontaneous abortion (RSA) is controversial and poorly understood.
  11. ncbi Risk factors and recurrence rate of primary deep vein thrombosis of the upper extremities
    Ida Martinelli
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Internal Medicine and Dermatology, Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Maggiore Policlinico, University of Milano, Italy
    Circulation 110:566-70. 2004
    ..Risk factors for primary upper-extremity DVT are not well established, and the recurrence rate is unknown...
  12. ncbi Pregnancy, the postpartum period and prothrombotic defects: risk of venous thrombosis in the MEGA study
    E R Pomp
    Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
    J Thromb Haemost 6:632-7. 2008
    ..Venous thrombosis is one of the leading causes of maternal morbidity and mortality...
  13. ncbi Correlation of polymorphisms to coagulation and biochemical risk factors for cardiovascular diseases
    A H Wu
    Department of Pathology and Laboratory Medicine, Hartford Hospital, Hartford, Connecticut 06102, USA
    Am J Cardiol 87:1361-6. 2001
    ..The impact of certain genotypes must be examined in relation to other established risk factors and potentially new therapeutic strategies...
  14. ncbi Reactive thrombocytosis might contribute to chemotherapy-related thrombophilia in patients with lung cancer
    Gabriella Zecchina
    Division of Hematology, San Luigi Hospital, University of Turin, Orbassano, Italy
    Clin Lung Cancer 8:264-7. 2007
    ..Thrombotic risk is increased in patients with cancer and further potentiated by chemotherapy. We assessed whether early hemostatic alterations could represent a risk factor for thrombosis in patients undergoing chemotherapy for lung cancer...
  15. ncbi Increased efficiency of mRNA 3' end formation: a new genetic mechanism contributing to hereditary thrombophilia
    N H Gehring
    Department of Pediatrics, , Humboldt University, Berlin, Germany
    Nat Genet 28:389-92. 2001
    ..causing a genetic disorder and explains the role of the F2 20210 G-->A mutation in the pathogenesis of thrombophilia. This work also illustrates the pathophysiologic importance of quantitatively minor aberrations of RNA ..
  16. ncbi Acquired and inherited thrombophilia: implication in recurrent IVF and embryo transfer failure
    Hussein S Qublan
    Department of Obstetrics and Gynecology, Royal Medical Services, Jordan Armed Forces, Irbid, Jordan
    Hum Reprod 21:2694-8. 2006
    ..The objective of this study was to determine the incidence of undiagnosed thrombophilic factors and its relation to IVF and embryo transfer failure in women who have had three or more previous IVF-embryo transfer cycles...
  17. ncbi The prevalence of thrombophilia in patients with chronic venous leg ulceration
    Rhoda K Mackenzie
    Vascular Surgery Unit, Royal Infirmary, Edinburgh, United Kingdom
    J Vasc Surg 35:718-22. 2002
    b>Thrombophilia is increasingly recognized as a risk factor for deep venous thrombosis (DVT), which in turn is a major risk factor for chronic venous ulceration (CVU). However, the relationship between thrombophilia and CVU remains unknown...
  18. doi Coagulation and inflammation. Molecular insights and diagnostic implications
    S Lipinski
    Institut für Klinische Molekularbiologie, Christian Albrechts Universitat, Schittenhelmstr 12, 24105 Kiel, Germany
    Hamostaseologie 31:94-102, 104. 2011
    ....
  19. ncbi Incidence of recurrent venous thromboembolism in relation to clinical and thrombophilic risk factors: prospective cohort study
    Trevor Baglin
    Department of Haematology, Addenbrooke s NHS Trust, Cambridge, UK
    Lancet 362:523-6. 2003
    ..We aimed to determine the incidence of recurrence of VTE in relation to clinical risk factors and standard laboratory testing for heritable thrombophilic defects...
  20. doi Early pregnancy loss in celiac women: The role of genetic markers of thrombophilia
    C Ciacci
    Gastroenterologia, Dipartimento di Medicina Clinica e Sperimentale, University of Naples Federico II, Naples, Italy
    Dig Liver Dis 41:717-20. 2009
    ..Adverse pregnancy outcomes are more frequent in celiac than in non-celiac women...
  21. ncbi Hemostatic changes in thyroid diseases: haemostasis and thrombosis
    Massimo Franchini
    Servizio di Immunoematologia e Trasfusione Centro Emofilia, Azienda Ospedaliera di Verona, Verona, Italy
    Hematology 11:203-8. 2006
    ....
  22. doi Thrombophilia and hypercoagulability
    Houria I Hassouna
    Department of Medicine, Michigan State University, East Lansing, MI 48824 1313, USA
    Med Princ Pract 18:429-40. 2009
    This is a review of less well-known aspects of thrombophilia and hypercoagulability as they relate to thrombosis...
  23. ncbi Inherited thrombophilia in ischemic stroke and its pathogenic subtypes
    G J Hankey
    Stroke Unit, Department of Neurology, Royal Perth Hospital, Perth, Australia
    Stroke 32:1793-9. 2001
    ..a proportion of ischemic strokes, but few studies have addressed this association or the association between thrombophilia and pathogenic subtypes of stroke...
  24. pmc Is thrombophilia a major risk factor for deep vein thrombosis of the lower extremities among Lebanese patients?
    R Kreidy
    Department of Vascular Surgery, Saint George Hospital, University Medical Center, Youssef Sursock Street, PO Box 166378, Achrafieh, Beirut 11002807, Lebanon
    Vasc Health Risk Manag 5:627-33. 2009
    ..The aim of this study is to define risk factors including inherited genetic abnormalities among Lebanese patients with lower extremity deep vein thrombosis. We report the clinical outcome of patients with thrombophilia.
  25. ncbi Upper extremity deep venous thrombosis in the population-based Malmö thrombophilia study (MATS). Epidemiology, risk factors, recurrence risk, and mortality
    Nazim Isma
    University of Lund Centre for Thrombosis and Haemostasis, Malmo University Hospital, S 20502 Malmo, Sweden
    Thromb Res 125:e335-8. 2010
    ..Deep venous thrombosis (DVT) is much less common in the upper than in the lower extremity. Furthermore, there is limited information on risk factors for and the prognosis of upper extremity (UE)DVT in the general population...
  26. ncbi Inherited thrombophilia and pregnancy complications revisited
    Marc A Rodger
    Thrombosis Program, Division of Hematology, Department of Medicine, University of Ottawa, Ottawa, Ontario, Canada
    Obstet Gynecol 112:320-4. 2008
    ..An inherited thrombophilia is only one of many factors that lead to development of these diseases and is unlikely to be the unique factor ..
  27. doi Impact of inherited thrombophilia on venous thromboembolism in children: a systematic review and meta-analysis of observational studies
    Guy Young
    Division of Hematology Oncology, Children s Hospital Los Angeles, Los Angeles, CA, USA
    Circulation 118:1373-82. 2008
    The aim of the present study was to estimate the impact of inherited thrombophilia (IT) on the risk of venous thromboembolism (VTE) onset and recurrence in children by a meta-analysis of published observational studies.
  28. ncbi Protein C and protein S deficiencies are the most important risk factors associated with thrombosis in Chinese venous thrombophilic patients in Taiwan
    M C Shen
    Department of Internal Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei
    Thromb Res 99:447-52. 2000
    The relative risks (odds ratio, OR) of various risk factors for venous thrombophilia, including sex, antithrombin III, protein C (PC), protein S (PS) and plasminogen deficiencies, and C677T homozygous mutation of ..
  29. ncbi High risk of recurrent venous thromboembolism in men
    T Baglin
    Addenbrooke s NHS Trust, Cambridge CB2 2QQ, UK
    J Thromb Haemost 2:2152-5. 2004
    ..We have analyzed the influence of gender on risk of recurrence after a first episode of venous thromboembolism (VTE)...
  30. doi Selective testing for thrombophilia in patients with first venous thrombosis: results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relatives
    Willem M Lijfering
    Department of Hematology, University Medical Center Groningen, The Netherlands
    Blood 113:5314-22. 2009
    b>Thrombophilia screening is controversial. In a retrospective family cohort, where probands had thrombosis and a thrombophilic defect, 2479 relatives were tested for thrombophilia...
  31. doi Impact of thrombophilia on risk of arterial ischemic stroke or cerebral sinovenous thrombosis in neonates and children: a systematic review and meta-analysis of observational studies
    Gili Kenet
    Pediatric Hematology and Oncology, University Hospital of Munster, Albert Schweitzer Str 33, D 48149 Munster, Germany
    Circulation 121:1838-47. 2010
    The aim of this study was to estimate the impact of thrombophilia on risk of first childhood stroke through a meta-analysis of published observational studies.
  32. doi The psychological impact of testing for thrombophilia: a systematic review
    D M Cohn
    Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands
    J Thromb Haemost 6:1099-104. 2008
    Nowadays, large numbers of patients are tested for thrombophilia, even though the benefits of this strategy remain unclear...
  33. ncbi Hypercoagulation and thrombophilia in liver disease
    P G Northup
    Division of Gastroenterology and Hepatology, University of Virginia Health System, Charlottesville, VA 22908 0708, USA
    J Thromb Haemost 6:2-9. 2008
    ..Critical areas lacking clinical information are highlighted and future areas of research interest are defined with an aim to foster clinical research in this field...
  34. ncbi Screening for inherited thrombophilia might be warranted among Eastern Mediterranean sickle-beta-0 thalassemia patients
    Hussain Isma'eel
    American University of Beirut Medical Center
    J Thromb Thrombolysis 22:121-3. 2006
    The role of genetic thrombophilia in the development of both micro and macro vascular complications in patients with hemoglobinopathies (Sickle cell disease and thalassemia) have been investigated with some studies negating its role ..
  35. ncbi The risk of recurrent venous thromboembolism in patients with inherited deficiency of natural anticoagulants antithrombin, protein C and protein S
    Valerio De Stefano
    Institute of Hematology, Catholic University, Rome, Italy
    Haematologica 91:695-8. 2006
    ..9, 95% CI 1.0-3.9); the carriers of PC or PS deficiency had a marginal increase in risk (hazard ratio 1.4, 95% CI 0.9-2.2). In conclusion, patients with AT deficiency are potential candidates for long-term oral anticoagulation...
  36. ncbi Prevalence of two thrombophilia predisposing mutations: factor V G1691A (R506Q; Leiden) and prothrombin G20210A, among healthy Lebanese
    Hala Tamim
    Thromb Haemost 88:691-2. 2002
  37. ncbi The risk of recurrent venous thromboembolism after discontinuing anticoagulation in patients with acute proximal deep vein thrombosis or pulmonary embolism. A prospective cohort study in 1,626 patients
    Paolo Prandoni
    Department of Medical and Surgical Sciences, University of Padua, Via Ospedale Civile 105, 35128, Padua, Italy
    Haematologica 92:199-205. 2007
    ..The aim of this investigation was to assess the rate of recurrent VTE after withdrawal of vitamin K antagonists, and to identify clinical parameters associated with a higher likelihood of recurrence...
  38. ncbi Risk factors for thrombophilia in extrahepatic portal vein obstruction
    Massimo Primignani
    Gastroenterology and Gastrointestinal Endoscopy Service, Department of Internal Medicine and Dermatology, IRCCS Maggiore Hospital and University of Milano, Milan, Italy
    Hepatology 41:603-8. 2005
    Scant information exists on the role of thrombophilia in extrahepatic portal vein obstruction (EHPVO)...
  39. ncbi Predictive value of D-dimer test for recurrent venous thromboembolism after anticoagulation withdrawal in subjects with a previous idiopathic event and in carriers of congenital thrombophilia
    Gualtiero Palareti
    Dipartimento di Angiologia, Unità Ricerca Clinica sulla Trombofilia Marino Golinelli, University Hospital S Orsola Malpighi, Bologna, Italy
    Circulation 108:313-8. 2003
    ..The aim of the present study was to assess the predictive value of D-dimer for recurrent VTE in subjects with a previous unprovoked event who are either carriers of inherited thrombophilia or not.
  40. doi Nonalcoholic fatty liver disease as a contributor to hypercoagulation and thrombophilia in the metabolic syndrome
    Giovanni Targher
    Department of Biomedical and Surgical Sciences, University of Verona, Italy
    Semin Thromb Hemost 35:277-87. 2009
    ..The clinical impact of NAFLD on the proinflammatory/prothrombotic risk profile deserves particular attention in view of the implications for screening and surveillance strategies in the growing number of patients with NAFLD...
  41. doi Does thrombophilia testing help in the clinical management of patients?
    Saskia Middeldorp
    Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
    Br J Haematol 143:321-35. 2008
    b>Thrombophilia can be identified in about half of all patients presenting with venous thrombosis...
  42. pmc Prothrombin gene G20210A mutation and obstetric complications
    Robert M Silver
    Departments of Obstetrics and Gynecology at the University of Alabama at Birmingham, Birmingham, Alabama, USA
    Obstet Gynecol 115:14-20. 2010
    ..To estimate whether maternal carriage of the prothrombin gene G20210A mutation is associated with pregnancy loss, preeclampsia, placental abruption, or small for gestational age (SGA) neonates in a low-risk, prospective cohort...
  43. ncbi Inherited thrombophilic risk factors and venous thromboembolism: distinct role in peripheral deep venous thrombosis and pulmonary embolism
    M Margaglione
    Unita di Aterosclerosi e Trombos, Istituto di Ricovera e Cura a Carattere Scientifico Casa Sollievo della Sofferenza, S Giovanni Rotondo, Italy
    Chest 118:1405-11. 2000
    ..To investigate whether the FII A(20210) mutation is associated with isolated pulmonary embolism (PE)...
  44. ncbi Factor V Leiden and prothrombin gene mutation may predispose to paradoxical embolism in subjects with patent foramen ovale
    Vesa Karttunen
    Department of Neurology, Oulu University Central Hospital, Box 25, FIN 90029 Oulu, Finland
    Blood Coagul Fibrinolysis 14:261-8. 2003
    ..140). Among the patients with prothrombotic states, Valsalva manoeuvre was common at onset of stroke. Our results support the possibility of paradoxical embolism behind strokes in patients with patent foramen ovale...
  45. ncbi Homocysteine lowering by B vitamins and the secondary prevention of deep vein thrombosis and pulmonary embolism: A randomized, placebo-controlled, double-blind trial
    Martin den Heijer
    Department of Endocrinology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Blood 109:139-44. 2007
    ..65-1.98) in the hyperhomocysteinemic group and 0.58 (95% CI, 0.31-1.07) in the normohomocysteinemic group. The results of our study do not show that homocysteine lowering by B vitamin supplementation prevents recurrent venous thrombosis...
  46. ncbi Pathophysiology of venous thrombosis, thrombophilia, and the diagnosis of deep vein thrombosis-pulmonary embolism in the elderly
    Geno J Merli
    Division of Internal Medicine, Jefferson Antithrombotic Therapy Service, Thomas Jefferson University Hospital, Jefferson Medical College, Philadelphia, PA 19107, USA
    Clin Geriatr Med 22:75-92, viii-ix. 2006
    ..The second clinical point is the appropriate need to evaluate elderly patients for primary or secondary thrombophilia. By using statistical probability and clinical history selected geriatric patients with VTE should be assessed ..
  47. ncbi Protein S and protein C gene mutations in Japanese deep vein thrombosis patients
    Sachiko Kinoshita
    Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, 3 1 1 Maedashi Fukuoka 812 8582, Japan
    Clin Biochem 38:908-15. 2005
    ..Hitherto, the constitutional background of Japanese thrombotic patients has never been systematically examined. We have performed a systematic investigation to determine pathogenesis for deep vein thrombosis in a Japanese population...
  48. ncbi X-linked thrombophilia with a mutant factor IX (factor IX Padua)
    Paolo Simioni
    Department of Cardiologic, Thoracic and Vascular Sciences, University of Padua Medical School, Padua, Italy
    N Engl J Med 361:1671-5. 2009
    We report a case of juvenile thrombophilia associated with a substitution of leucine for arginine at position 338 (R338L) in the factor IX gene (factor IX-R338L)...
  49. doi Thrombophilia testing in patients with venous thromboembolism. Findings from the RIETE registry
    Vanessa Roldan
    Department of Haematology and Clinical Oncology, Universidad de Murcia, Spain
    Thromb Res 124:174-7. 2009
    There is scarce information on the management habits with regard to thrombophilia testing in patients with venous thromboembolism (VTE).
  50. ncbi Genetic hypofibrinolysis in complicated pregnancies
    C J Glueck
    Cholesterol Center, Alliance Hospitals, Cincinnati, Ohio 45229, USA
    Obstet Gynecol 97:44-8. 2001
    ..To assess the hypofibrinolytic 4G/4G mutation of the plasminogen activator inhibitor (PAI-1) gene as a possible factor contributing to severe preeclampsia, abruptio placentae, fetal growth restriction, and stillbirth...
  51. ncbi Pregnancy loss, polycystic ovary syndrome, thrombophilia, hypofibrinolysis, enoxaparin, metformin
    Charles J Glueck
    Cholesterol Center, Jewish Hospital, Cincinnati, Ohio, USA
    Clin Appl Thromb Hemost 10:323-34. 2004
    b>Thrombophilia, hypofibrinolysis, and polycystic ovary syndrome (PCOS) are associated with recurrent pregnancy loss (RPL) and spontaneous abortion (SAB) alone and concurrently...
  52. doi Hypercoagulability in patients undergoing coronary artery bypass grafting: prevalence, patient characteristics and postoperative outcome
    Sulman Rafiq
    Department of Cardiothoracic Surgery, The Heart Centre, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
    Eur J Cardiothorac Surg 41:550-5. 2012
    ....
  53. ncbi Thrombophilia testing in patients with venous thrombosis
    J A Caprini
    Department of Surgery, Evanston Northwestern Healthcare, Evanston, IL 60201, USA
    Eur J Vasc Endovasc Surg 30:550-5. 2005
    Routine thrombophilia testing is controversial because of the low yield of positive tests, costs involved, and debate about the clinical usefulness of the data obtained from testing...
  54. ncbi Prevalence of inherited thrombophilia in young thrombosis patients from the East Bohemian region
    P Dulícuek
    Department of Hematology, University Hospital, Hradec Kralove, Czech Republic
    Blood Coagul Fibrinolysis 13:569-73. 2002
    ..Inherited thrombophilia may result in a hypercoagulable state that causes an increased tendency to thrombosis...
  55. ncbi The presence of anti-phosphatidylserine/prothrombin antibodies as risk factor for both arterial and venous thrombosis in patients with systemic lupus erythematosus
    Junzo Nojima
    Laboratory for Clinical Investigation, Osaka University Hospital, Suita, Osaka 565 0871, Japan
    Haematologica 91:699-702. 2006
    ..Furthermore, results of the anti-PS/PT-ELISA correlate best with the occurrence of both arterial and venous thrombosis in patients with SLE...
  56. ncbi Hemodialysis, erythropoietin and megakaryocytopoiesis: factors in uremic thrombocytopathy and thrombophilia
    J J Zwaginga
    Department of Hematology, Academical Medical Center, Department of Experimental Immunohematology, Sanquin Research at CLB, Amsterdam, The Netherlands
    J Thromb Haemost 2:1272-4. 2004
  57. doi Thrombophilia and the risk of thromboembolic events in women on oral contraceptives and hormone replacement therapy
    Maria T Desancho
    Division of Hematology and Medical Oncology, Department of Medicine, Weill Medical College of Cornell University, New York Presbyterian Hospital Cornell Medical Center, 525 East 68th Street, New York, NY 10021, USA
    Blood Coagul Fibrinolysis 21:534-8. 2010
    b>Thrombophilia contributes to the risk of thrombosis in women using female hormones...
  58. ncbi Embryo implantation after assisted reproductive procedures and maternal thrombophilia
    Ida Martinelli
    A Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital, University of Milano, Via Pace, 9, 20122 Milano, Italy
    Haematologica 88:789-93. 2003
    ..of failure of embryo implantation might be an impairment of the uteroplacental circulation due to hypercoagulability in the mother, we investigated the association between thrombophilia and failure to achieve pregnancy after IVF or ICSI.
  59. ncbi Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia
    Paula M Saukko
    ESRC Centre for Genomics in Society, School of Humanities and Social Sciences, University of Exeter, Exeter, UK
    Soc Sci Med 63:1947-59. 2006
    ..of participants, who were often less educated or at a high risk, were distressed and/or confused about thrombophilia and thought pre-test counselling would have been helpful...
  60. doi Pre-eclampsia and inherited thrombophilia: a reappraisal
    Werner Rath
    Department of Obstetrics and Gynaecology, Faculty of Medicine, University Hospital Aachen, Aachen, Germany
    Semin Thromb Hemost 37:118-24. 2011
    Pre-eclampsia (P-EC) is a major cause of maternal and fetal morbidity and mortality. Inherited thrombophilia has been suggested to increase the risk of P-EC or may accelerate the pathophysiological process...
  61. ncbi A novel mutation in intron K of the PROS1 gene causes aberrant RNA splicing and is a common cause of protein S deficiency in a UK thrombophilia cohort
    N J Beauchamp
    Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK
    Thromb Haemost 79:1086-91. 1998
    In the course of investigating the molecular basis of protein S deficiency in 31 index cases with thrombophilia, we identified seven kindred where the underlying defect was a novel A to G transition 9 bp upstream of exon 12 in intron K ..
  62. ncbi Platelet-mediated microvascular inflammation and thrombosis in thrombocythemia vera: a distinct aspirin-responsive arterial thrombophilia, which transforms into a bleeding diathesis at increasing platelet counts
    J J Michiels
    Hemostasis, Thrombosis and Vascular Research, Department of Hematology, University Hospital, Antwerp, Belgium
    Pathol Biol (Paris) 51:167-75. 2003
    ....
  63. doi Prevalence rate for inherited thrombophilia in patients with chronic and recurrent venous leg ulceration
    Adam Wiszniewski
    Department of Vascular Surgery, Institute of Haematology and Transfusion Medicine, Warsaw, Poland
    Wound Repair Regen 19:552-8. 2011
    The aim of the study was to determine the prevalence rate for inherited thrombophilia (IT) in patients with chronic (CVU) and recurrent venous leg ulceration...
  64. ncbi Prevalence of thrombophilia and catheter-related thrombosis in cystic fibrosis
    Michael Barker
    Department of Pediatrics, University Hospital, University of Technology Aachen, Aachen, Germany
    Pediatr Pulmonol 39:156-61. 2005
    ..It may thus be helpful to include a hemostatic evaluation in the clinical decision process for or against TIVAD insertion in eligible CF patients...
  65. ncbi D-dimer levels, constitutional thrombophilia, and venous thrombosis prediction: clinical aspects and implications
    M M Samama
    University Hospital, Hotel Dieu, Paris, France
    Semin Vasc Med 5:371-4. 2005
    ..The measurement of D-dimer could be of clinical interest in patients with constitutional thrombophilia as there is no close relationship between the clinical expression and the genotype indicating the existence of ..
  66. ncbi Pregnancy and thrombophilia
    Mrinal M Patnaik
    University of Minnesota, Department of Internal Medicine, Minneapolis, MN, USA
    Expert Rev Cardiovasc Ther 5:753-65. 2007
    ..The presence of hereditary or acquired causes of thrombophilia during pregnancy tilts the balance in favor of unwanted venous thromboembolism and adverse pregnancy outcomes ..
  67. pmc Heritable thrombophilia-hypofibrinolysis and osteonecrosis of the femoral head
    Charles J Glueck
    Cholesterol Center, Jewish Hospital, ABC Building, 3200 Burnet Avenue, Cincinnati, OH 45229, USA
    Clin Orthop Relat Res 466:1034-40. 2008
    We hypothesized that inherited thrombophilia and hypofibrinolysis were risk factors for osteonecrosis of the femoral head...
  68. ncbi An imbalance of pro- vs anti-coagulation factors in plasma from patients with cirrhosis
    Armando Tripodi
    Department of Internal Medicine and Medical Specialties, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milano, Italy
    Gastroenterology 137:2105-11. 2009
    ..We investigated whether plasma from cirrhotic patients has an imbalance of pro- vs anti-coagulation factors...
  69. ncbi [Klinefelter's syndrome associated with mixed connective tissue disease (Sharp's syndrome) and thrombophilia with postthrombotic syndrome]
    Robert Kasten
    Schlossklinik Abtsee, Fachklinik für Venenleiden, Laufen
    J Dtsch Dermatol Ges 3:623-6. 2005
    ..is evidence that patients with Klinefelter's syndrome are prone to develop connective tissue diseases and thrombophilia as a result of low androgen levels...
  70. ncbi Unexplained fetal loss: the fetal side of thrombophilia
    Andrea Luigi Tranquilli
    Department of Clinical Sciences, Polytechnic University of Marche, Ancona, Italy
    Fertil Steril 94:378-80. 2010
    ....
  71. ncbi Thrombophilia and chronic venous ulceration
    A W Bradbury
    University Department of Vascular Surgery, Lincoln House Research Institute, Birmingham Heartlands Hospital, Bordesley Green East, Birmingham, B9 5SS, U K
    Eur J Vasc Endovasc Surg 24:97-104. 2002
    It is known that thrombophilia (TP) is a risk factor for deep venous thrombosis (DVT), and that DVT predisposes to chronic venous ulceration (CVU). However, the relationship between TP and CVU has not been well studied...
  72. ncbi Thrombophilia and avascular necrosis of femoral head in kidney allograft recipients
    Yakup Ekmekci
    Department of Nephrology, Ankara University School of Medicine, Ibni Sina Hospital, 06100, Ankara, Turkey
    Nephrol Dial Transplant 21:3555-8. 2006
    b>Thrombophilia has been implicated in the development of avascular necrosis (AVN) in various diseases...
  73. ncbi Thrombophilia-associated gene mutations in women with pregnancies complicated by fetal neural tube defects
    Seyit Temel Ceyhan
    Department of Obstetrics and Gynecology, Gulhane Military Medical Academy, Ankara, Turkey
    Int J Gynaecol Obstet 101:188-9. 2008
  74. doi Recurrent miscarriage and thrombophilia: an update
    Kelly McNamee
    Liverpool Women s NHS Foundation Trust, Liverpool, UK
    Curr Opin Obstet Gynecol 24:229-34. 2012
    Acquired and inherited thrombophilia is an important research avenue in the recurrent miscarriage field. The optimum treatment for patients with recurrent miscarriage and a confirmed thrombophilia remains a contentious issue...
  75. ncbi Preeclampsia and its interaction with common variants in thrombophilia genes
    M P M De Maat
    Department of Hematology, Erasmus Medical Center, Rotterdam, The Netherlands
    J Thromb Haemost 2:1588-93. 2004
    ..Polymorphisms in the thrombophilia genes [plasminogen activator inhibitor type 1 [PAI-1 -675(4G/5G)], thrombin activatable fibrinolysis inhibitor ..
  76. ncbi Role of family history in identifying women with thrombophilia and higher risk of venous thromboembolism during oral contraception
    Benilde Cosmi
    Division of Angiology, Cardiovascular Department, Unità di Ricerca Clinica sulla Trombofilia Marino Golinelli, University Hospital S Orsola Malpighi, University of Bologna, Via Massarenti 9, 40138 Bologna, Italy
    Arch Intern Med 163:1105-9. 2003
    ..We evaluated the sensitivity and specificity of a family history of VTE to identify thrombophilia in women before OC and after venous thrombotic complications during OC.
  77. ncbi The optimal duration of secondary thromboprophylaxis in patients with venous thromboembolism. The importance of thrombophilia screening
    Paul Alexander Kyrle
    Division of Hematology and Hemostasis, Department of Internal Medicine I, Medical University of Vienna, Vienna, Austria
    Wien Med Wochenschr 155:17-21. 2005
    ..The risk of recurrence is low in patients with venous thrombosis secondary to surgery or trauma. Routine thrombophilia screening is aimed at identifying patients who could benefit from extended anticoagulation...
  78. doi Thrombophilia and pre-eclampsia
    Moniek P M de Maat
    Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands
    Semin Thromb Hemost 37:106-10. 2011
    ..which an important extensively studied group is formed by the early recognizable genetic factors resulting in thrombophilia. The discussion is ongoing whether the associations found for thrombophilia are true and clinically relevant...
  79. ncbi Combination of thrombophilia markers in acute myocardial infarction of the young
    Amit Khare
    Institute of Immunohaematology I C M R, 13th Floor New Building, KEM Hospital, Parel, Mumbai 400 012, India
    Indian J Med Sci 58:381-8. 2004
    ..But, there have been very few studies in India which have investigated some of the thrombophilia markers.
  80. ncbi Polycystic ovarian syndrome and thrombophilia
    G Tsanadis
    Department of Obstetrics and Gynecology, University Hospital of Ioannina, Ioannina 45500, Greece
    Hum Reprod 17:314-9. 2002
    ..Since thrombophilic states correlate with high miscariage rates, as does PCOS, this study aimed at looking for thrombophilic predisposition in PCOS women compared with non-PCOS controls...
  81. ncbi Low-molecular-weight heparin added to aspirin in the prevention of recurrent early-onset pre-eclampsia in women with inheritable thrombophilia: the FRUIT-RCT
    Johanna I P De Vries
    Department of Obstetrics and Gynaecology, VU University Medical Center, Amsterdam, The Netherlands
    J Thromb Haemost 10:64-72. 2012
    ..disorders (HD) of pregnancy and small-for-gestational age infants (SGA) are associated with placental vascular thrombosis, these often recur and are also associated with inheritable thrombophilia. Aspirin reduces the recurrence risk.
  82. doi Evaluation of the procoagulant activity in the plasma of cancer patients using a thrombin generation assay
    France Debaugnies
    Laboratory of Hematology and Haemostasis, Universite Libre de Bruxelles, Centre Hospitalier Universitaire Brugmann, Brussels, Belgium
    Thromb Res 126:531-5. 2010
    ..The aim of our study is to assess the procoagulant activity, including microparticles' activity, in the plasma of newly diagnosed cancer patients with a simple assay, easy to implement in the laboratory...
  83. doi Living donor liver transplantation: usefulness of hemostatic and prothrombotic screening in potential donors
    R Bustelos
    Department of Hematology, Hospital 12 de Octubre, Madrid, Spain
    Transplant Proc 41:3791-5. 2009
    ..Although the cost-effectiveness is not definitely established, we recommend systematic screening for hemostatic and prothrombotic disorders to prevent more morbidity of a procedure that already has high risks of bleeding and thrombosis...
  84. doi Deep venous thrombosis caused by inferior vena cava atresia and hereditary thrombophilia
    Shelonitda S Rose
    Division of Hematology, UMDNJ Robert Wood Johnson Medical School, New Brunswick, New Jersey 08903, USA
    Am J Med Sci 337:67-70. 2009
    ..Patients with IVC atresia associated with hereditary thrombophilia are at increased risk for recurrent DVT and may require long-term anticoagulation...
  85. ncbi The Factor V Leiden mutation is associated with a higher blood haemoglobin concentration in women below 50 of the Malmö Thrombophilia Study (MATS)
    Nazim Isma
    Malmö Centre for Thrombosis and Haemostasis, Malmo, Sweden
    J Thromb Thrombolysis 28:255-8. 2009
    ..1998 to December 2005, 927 consecutive patients with objectively diagnosed VTE were registered in the Malmö Thrombophilia Study (MATS)...
  86. ncbi Familial thrombophilia and retinal vein occlusion
    O Backhouse
    Department of Ophthalmology, Bradford Royal Infirmary, UK
    Eye (Lond) 14:13-7. 2000
    To perform a pilot study on the prevalence of familial thrombophilia in all cases of retinal vein occlusion with no known risk factors.
  87. ncbi Venous thromboembolism in young female while on oral contraceptives: high frequency of inherited thrombophilia and analysis of thrombotic events in 400 czech women
    Petr Dulicek
    Second Department of Internal Medicine Division of Hematology, University Hospital and Medical Faculty of Charles University, Hradec Kralove, Czech Republic
    Clin Appl Thromb Hemost 15:567-73. 2009
    Oral contraceptive use is a common risk factor for venous thromboembolism in women of reproductive age. The presence of inherited thrombophilia further increases this risk.
  88. ncbi Intrauterine upper limb ischemia associated with fetal thrombophilia: a case report and review of the literature
    Wadah M Khriesat
    Department of Pediatrics, Jordan University of Science and Technology, Irbid, Jordan
    Acta Haematol 124:1-4. 2010
    ..We suggest investigating the neonates and their mothers for possible genetic prothrombotic risk factors when they present with intrauterine thrombosis as this issue is important for management and counseling...
  89. ncbi Management of thrombophilia in renal transplant patients
    Paul E Morrissey
    Department of Surgery, Rhode Island Hospital and Brown University, Providence, RI, USA
    Am J Transplant 2:872-6. 2002
    Renal allograft recipients with thrombophilia (a hypercoagulable state) are at higher risk for early allograft loss...
  90. ncbi Selective thrombophilia screening of patients with nonarteritic anterior ischemic optic neuropathy
    Claudia Kuhli-Hattenbach
    Klinik fur Augenheilkunde, Klinikum der Johann Wolfgang Goethe Universitat, Frankfurt am Main, Germany
    Graefes Arch Clin Exp Ophthalmol 247:485-90. 2009
    ..We sought to investigate the prevalence of various coagulation defects among NAION patients <65 years of age, and to provide clinical guidelines for a selective thrombophilia screening.
  91. ncbi Inherited thrombophilia and first venous thromboembolism during pregnancy and puerperium
    Ida Martinelli
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital, University of Milan, Italy
    Thromb Haemost 87:791-5. 2002
    ..available on the actual risk of venous thromboembolism during pregnancy or puerperium in women with inherited thrombophilia, particularly in carriers of factor V Leiden and of the G20210A prothrombin gene mutation...
  92. ncbi Thrombophilia and adverse maternal-perinatal outcome
    Caroline L Stella
    University of Cincinnati College of Medicine, Division of Maternal Fetal Medicine, Cincinnati, Ohio 45267 0526, USA
    Clin Obstet Gynecol 49:850-60. 2006
    A recent review of the literature on thrombophilia and adverse pregnancy outcome (APO) reveals contradictory findings. We have limited our review of literature mostly to the most recent decade...
  93. pmc Thrombophilia in pregnancy
    I D Walker
    Haematology Department, Glasgow Royal Infirmary, UK
    J Clin Pathol 53:573-80. 2000
    b>Thrombophilia can be defined as a predisposition to thrombosis...
  94. ncbi Thrombophilia: an update
    Saskia Middeldorp
    Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
    Semin Thromb Hemost 33:563-72. 2007
  95. ncbi Factor V Leiden and prothrombin G20210A mutations in young adults with cryptogenic ischemic stroke
    Justo Aznar
    La Fe University Hospital, Department of Clinical Pathology, Avd Campanar 21, 46009 Valencia, Spain
    Thromb Haemost 91:1031-4. 2004
    ..OC use is also a significant risk factor for cryptogenic stroke, which is increased in women with some genetic thrombotic risk factor...
  96. ncbi Hereditary thrombophilia and fetal loss: a prospective follow-up study
    C Y Vossen
    Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
    J Thromb Haemost 2:592-6. 2004
    As the placental vessels are dependent on the normal balance of procoagulant and anticoagulant mechanisms, inherited thrombophilia may be associated with fetal loss.
  97. ncbi Thrombophilia-related genetic variations in patients with pulmonary embolism in the main teaching hospital in Jordan
    Nathir M Obeidat
    Department of Internal Medicine, Critical Care and Sleep Medicine, Jordan University Hospital, Amman 11942, Jordan
    Saudi Med J 30:921-5. 2009
    ....
  98. ncbi Current practise of testing for inherited thrombophilia
    M Coppens
    J Thromb Haemost 5:1979-81. 2007
  99. ncbi How strong is the association between maternal thrombophilia and adverse pregnancy outcome? A systematic review
    Zarko Alfirevic
    Liverpool Women s Hospital, Crown Street, Liverpool L8 7SS, UK
    Eur J Obstet Gynecol Reprod Biol 101:6-14. 2002
    ..To determine whether inherited and acquired thrombophilias are associated with adverse obstetric complications...
  100. ncbi Attitudes toward genetic testing for thrombophilia in asymptomatic members of a large family with heritable protein C deficiency
    I M van Korlaar
    Unit of Psychology, Leiden University Medical Center, Leiden, The Netherlands
    J Thromb Haemost 3:2437-44. 2005
    ..Little research has been performed regarding the psychological consequences of knowing that one is at an increased risk for venous thrombosis...
  101. ncbi Thrombophilia and venous thromboembolism: implications for testing
    Danny M Cohn
    Academic Medical Center, Department of Vascular Medicine, Amsterdam, The Netherlands
    Semin Thromb Hemost 33:573-81. 2007
    ..This has led to widespread testing for thrombophilia, despite the fact that, at present, it is unclear whether this should have therapeutic consequences...

Research Grants72

  1. NEWBORN SCREENING BY MULTIPLEX MOLECULAR ANALYSIS
    Edwin Naylor; Fiscal Year: 2002
    ..Alpha-1-Antitrypsin Deficiency Z allele (G9989a) and S allele (A7677T); 4). Hereditary Thrombophilia (Factor V Leiden G1691A, Prothrombin G20210A, Methylenetetrahydrofolate reductase C677T); 5)...
  2. Region VII Hemophilia Program
    Brian Wicklund; Fiscal Year: 2007
    ..and lay organizations such as the National Hemophilia Foundation and the National Alliance for Thrombosis and Thrombophilia, the regional project looks at the hypothesis that with increased physical activity, persons with hemophilia ..
  3. Region VII Hemophilia Program
    Brian M Wicklund; Fiscal Year: 2010
    ..and lay organizations such as the National Hemophilia Foundation and the National Alliance for Thrombosis and Thrombophilia, the regional project looks at the hypothesis that with increased physical activity, persons with hemophilia ..
  4. Region VII Hemophilia Program
    Brian Wicklund; Fiscal Year: 2006
    ..and lay organizations such as the National Hemophilia Foundation and the National Alliance for Thrombosis and Thrombophilia, the regional project looks at the hypothesis that with increased physical activity, persons with hemophilia ..
  5. Region VII Hemophilia Program
    Brian Wicklund; Fiscal Year: 2009
    ..and lay organizations such as the National Hemophilia Foundation and the National Alliance for Thrombosis and Thrombophilia, the regional project looks at the hypothesis that with increased physical activity, persons with hemophilia ..
  6. MUTATIONS, HORMONE THERAPY, AND VENOUS THROMBOEMBOLISM
    Bruce Psaty; Fiscal Year: 2001
    ..Abstract) Epidemiologic studies have identified Factor V Leiden as the most common cause of heritable thrombophilia a prothrombotic mutation associated with a 5 to 7-fold increase in the risk of venous thromboembolism (VTE)...
  7. Rare Thrombotic Diseases Clinical Research Network
    Thomas Ortel; Fiscal Year: 2005
    ..g., Antiphospholipid Syndrome Collaborative Registry) and programs (e.g., CDC-sponsored Thrombophilia Programs; Duke Center for Human Genetics) to identify and enroll patients into hypothesis-driven prospective ..
  8. Rare Thrombotic Diseases Clinical Research Network
    Thomas Ortel; Fiscal Year: 2007
    ..g., Antiphospholipid Syndrome Collaborative Registry) and programs (e.g., CDC-sponsored Thrombophilia Programs; Duke Center for Human Genetics) to identify and enroll patients into hypothesis-driven prospective ..
  9. Rare Thrombotic Diseases Clinical Research Network
    Thomas Ortel; Fiscal Year: 2006
    ..g., Antiphospholipid Syndrome Collaborative Registry) and programs (e.g., CDC-sponsored Thrombophilia Programs; Duke Center for Human Genetics) to identify and enroll patients into hypothesis-driven prospective ..
  10. Rare Thrombotic Diseases Clinical Research Network
    Thomas Ortel; Fiscal Year: 2004
    ..g., Antiphospholipid Syndrome Collaborative Registry) and programs (e.g., CDC-sponsored Thrombophilia Programs; Duke Center for Human Genetics) to identify and enroll patients into hypothesis-driven prospective ..
  11. MUTATIONS, HORMONE THERAPY, AND VENOUS THROMBOEMBOLISM
    Bruce Psaty; Fiscal Year: 2000
    ..Abstract) Epidemiologic studies have identified Factor V Leiden as the most common cause of heritable thrombophilia a prothrombotic mutation associated with a 5 to 7-fold increase in the risk of venous thromboembolism (VTE)...
  12. MUTATIONS, HORMONE THERAPY, AND VENOUS THROMBOEMBOLISM
    Bruce Psaty; Fiscal Year: 1999
    ..Abstract) Epidemiologic studies have identified Factor V Leiden as the most common cause of heritable thrombophilia a prothrombotic mutation associated with a 5 to 7-fold increase in the risk of venous thromboembolism (VTE)...
  13. Identifying Thrombosis Modifier Genes in the Mouse
    David Ginsburg; Fiscal Year: 2009
    ..responsible for the highly variable clinical course of patients with factor V Leiden and other forms of thrombophilia are unknown...
  14. Identifying Thrombosis Modifier Genes in the Mouse
    David Ginsburg; Fiscal Year: 2011
    ..responsible for the highly variable clinical course of patients with factor V Leiden and other forms of thrombophilia are unknown...
  15. STRUCTURE/FUNCTION OF PROTEIN C
    John Griffin; Fiscal Year: 1999
    ..Clinical trials of PC concentrates for antithrombotic therapy have been initiated. Plasma from many thrombophilia patients gives a poor anticoagulant response to APC...
  16. Structural Mechanisms for the Inhibition of Thrombosis
    JAMES HUNTINGTON; Fiscal Year: 2004
    ..Such an understanding will help explain dysfunction which leads to familial thrombophilia and aid in the development of novel therapeutic antithrombotic agents...
  17. Structural Mechanisms for the Inhibition of Thrombosis
    JAMES HUNTINGTON; Fiscal Year: 2002
    ..Such an understanding will help explain dysfunction which leads to familial thrombophilia and aid in the development of novel therapeutic antithrombotic agents...
  18. Structural Mechanisms for the Inhibition of Thrombosis
    JAMES HUNTINGTON; Fiscal Year: 2003
    ..Such an understanding will help explain dysfunction which leads to familial thrombophilia and aid in the development of novel therapeutic antithrombotic agents...
  19. THROMBOMODULIN FUNCTION IN CELLULAR PHYSIOLOGY
    Hartmut Weiler; Fiscal Year: 2006
    ..is the delineation of novel pathogenic mechanisms underlying adverse pregnancy outcome associated with thrombophilia. Our work in the context of the parent proposal to study the function of the blood clotting regulator ..
  20. THROMBOMODULIN FUNCTION IN CELLULAR PHYSIOLOGY
    Hartmut Weiler; Fiscal Year: 2007
    ..is the delineation of novel pathogenic mechanisms underlying adverse pregnancy outcome associated with thrombophilia. Our work in the context of the parent proposal to study the function of the blood clotting regulator ..
  21. Genetic Variation in Factor IX and Thrombosis Risk
    TOM HOWARD; Fiscal Year: 2005
    ..Recent discoveries from the Genetics Analysis of Idiopathic Thrombophilia (GAIT) Project demonstrate that: 1) the population variation in thrombosis risk has a high heritability (h2), ..
  22. Genetic Variation in Factor IX and Thrombosis Risk
    TOM HOWARD; Fiscal Year: 2004
    ..Recent discoveries from the Genetics Analysis of Idiopathic Thrombophilia (GAIT) Project demonstrate that: 1) the population variation in thrombosis risk has a high heritability (h2), ..
  23. Thrombosis and Hemostasis Centers Research and Prevention Network
    Thomas L Ortel; Fiscal Year: 2010
    ..The Duke Thrombosis and Hemostasis Center, one of the founding centers in the Thrombophilia Pilot Program supported by the Centers for Disease Control and Prevention (CDC), integrates areas of clinical ..
  24. Genetic Variation in Factor IX and Thrombosis Risk
    TOM HOWARD; Fiscal Year: 2003
    ..Recent discoveries from the Genetics Analysis of Idiopathic Thrombophilia (GAIT) Project demonstrate that: 1) the population variation in thrombosis risk has a high heritability (h2), ..
  25. Genetic Variation in Factor IX and Thrombosis Risk
    TOM HOWARD; Fiscal Year: 2006
    ..Recent discoveries from the Genetics Analysis of Idiopathic Thrombophilia (GAIT) Project demonstrate that: 1) the population variation in thrombosis risk has a high heritability (h2), ..
  26. Thrombosis and Hemostasis Centers Research and Prevention Network
    Thomas Ortel; Fiscal Year: 2009
    ..The Duke Thrombosis and Hemostasis Center, one of the founding centers in the Thrombophilia Pilot Program supported by the Centers for Disease Control and Prevention (CDC), integrates areas of clinical ..
  27. Genetic Variation in Factor IX and Thrombosis Risk
    Laura Almasy; Fiscal Year: 2006
    ..Recent discoveries from the Genetics Analysis of Idiopathic Thrombophilia (GAIT) Project demonstrate that: 1) the population variation in thrombosis risk has a high heritability (h2), ..
  28. Thrombosis and Hemostasis Centers Research and Prevention Network
    Thomas Ortel; Fiscal Year: 2007
    ..The Duke Thrombosis and Hemostasis Center, one of the founding centers in the Thrombophilia Pilot Program supported by the Centers for Disease Control and Prevention (CDC), integrates areas of clinical ..
  29. NEWBORN SCREENING BY MULTIPLEX MOLECULAR ANALYSIS
    Edwin Naylor; Fiscal Year: 2001
    ..Alpha-1-Antitrypsin Deficiency Z allele (G9989a) and S allele (A7677T); 4). Hereditary Thrombophilia (Factor V Leiden G1691A, Prothrombin G20210A, Methylenetetrahydrofolate reductase C677T); 5)...
  30. MOLECULAR GENETIC STUDY OF VONWILLEBRAND FACTOR
    David Ginsburg; Fiscal Year: 2006
    ..The results of these studies should offer new insight into the biology of endothelial cell function and VWF biosynthesis, and may also lead to improved diagnosis and therapy for VWD and thrombophilia.
  31. THROMBOMODULIN FUNCTION IN CELLULAR PHYSIOLOGY
    Hartmut Weiler; Fiscal Year: 2004
    ..is the delineation of novel pathogenic mechanisms underlying adverse pregnancy outcome associated with thrombophilia. Our work in the context of the parent proposal to study the function of the blood clotting regulator ..
  32. THROMBOMODULIN FUNCTION IN CELLULAR PHYSIOLOGY
    Hartmut Weiler; Fiscal Year: 2005
    ..is the delineation of novel pathogenic mechanisms underlying adverse pregnancy outcome associated with thrombophilia. Our work in the context of the parent proposal to study the function of the blood clotting regulator ..
  33. Structural Mechanisms for the Inhibition of Thrombosis
    JAMES HUNTINGTON; Fiscal Year: 2002
    ..Such an understanding will help explain dysfunction which leads to familial thrombophilia and aid in the development of novel therapeutic antithrombotic agents...
  34. THROMBIN SIGNALING IN HEMOSTASIS AND THROMBOSIS
    Shaun Coughlin; Fiscal Year: 2000
    ..The applicants will use mice bearing gain-of-function mutations in PAR4 to determine if such GPCR mutations, alone or in combination with mutations in other genes, might be a basis for thrombophilia.
  35. IDENTIFICATION & TREATMENT OF OSTEONECROSIS OF THE HIP
    Roy Aaron; Fiscal Year: 2000
    ..Aim 2 will determine, in the populations of at-risk individuals, whether or not inherited hypofibrinolysis and thrombophilia constitute a genetic predisposition to osteonecrosis...
  36. THROMBIN SIGNALING IN HEMOSTASIS AND THROMBOSIS
    Shaun Coughlin; Fiscal Year: 2001
    ..The applicants will use mice bearing gain-of-function mutations in PAR4 to determine if such GPCR mutations, alone or in combination with mutations in other genes, might be a basis for thrombophilia.
  37. THROMBIN SIGNALING IN HEMOSTASIS AND THROMBOSIS
    Shaun Coughlin; Fiscal Year: 2002
    ..The applicants will use mice bearing gain-of-function mutations in PAR4 to determine if such GPCR mutations, alone or in combination with mutations in other genes, might be a basis for thrombophilia.
  38. IDENTIFICATION AND TREATMENT OF OSTEONECROSIS OF THE HIP
    Roy Aaron; Fiscal Year: 1999
    ..Aim 2 will determine, in the populations of at-risk individuals, whether or not inherited hypofibrinolysis and thrombophilia constitute a genetic predisposition to osteonecrosis...
  39. IDENTIFICATION & TREATMENT OF OSTEONECROSIS OF THE HIP
    Roy Aaron; Fiscal Year: 2002
    ..Aim 2 will determine, in the populations of at-risk individuals, whether or not inherited hypofibrinolysis and thrombophilia constitute a genetic predisposition to osteonecrosis...
  40. THROMBIN SIGNALING IN HEMOSTASIS AND THROMBOSIS
    Shaun Coughlin; Fiscal Year: 2003
    ..The applicants will use mice bearing gain-of-function mutations in PAR4 to determine if such GPCR mutations, alone or in combination with mutations in other genes, might be a basis for thrombophilia.
  41. IDENTIFICATION & TREATMENT OF OSTEONECROSIS OF THE HIP
    Roy Aaron; Fiscal Year: 2003
    ..Aim 2 will determine, in the populations of at-risk individuals, whether or not inherited hypofibrinolysis and thrombophilia constitute a genetic predisposition to osteonecrosis...
  42. THROMBIN SIGNALING IN HEMOSTASIS AND THROMBOSIS
    Shaun Coughlin; Fiscal Year: 2004
    ..The applicants will use mice bearing gain-of-function mutations in PAR4 to determine if such GPCR mutations, alone or in combination with mutations in other genes, might be a basis for thrombophilia.
  43. IDENTIFICATION & TREATMENT OF OSTEONECROSIS OF THE HIP
    Roy Aaron; Fiscal Year: 2001
    ..Aim 2 will determine, in the populations of at-risk individuals, whether or not inherited hypofibrinolysis and thrombophilia constitute a genetic predisposition to osteonecrosis...
  44. Gene Targets for Intraventricular Hemorrhage (IVH)
    Laura Ment; Fiscal Year: 2009
    ..suggest familial susceptibility for IVH in VLBW twins, and several studies have investigated the role of thrombophilia, inflammatory and vascular genes in the genesis of Gr 3 - 4 IVH...
  45. Gene Targets for Intraventricular Hemorrhage (IVH)
    Laura Ment; Fiscal Year: 2007
    ..suggest familial susceptibility for IVH in VLBW twins, and several studies have investigated the role of thrombophilia, inflammatory and vascular genes in the genesis of Gr 3 - 4 IVH...
  46. Mayo Clinic Thrombosis and Hemostasis Research Center
    John Heit; Fiscal Year: 2009
    ..To address these hypotheses, we will use the resources of the eight Thrombophilia Center Pilot sites and the Centers for Disease Control to identify susceptibility genes in high-risk VTE ..
  47. Mayo Clinic Thrombosis and Hemostasis Research Center
    John Heit; Fiscal Year: 2007
    ..To address these hypotheses, we will use the resources of the eight Thrombophilia Center Pilot sites and the Centers for Disease Control to identify susceptibility genes in high-risk VTE ..
  48. Thrombosis and Hemostasis Centers Research and Prevention Network
    Stephan Moll; Fiscal Year: 2010
    ..Thrombosis and Hemostasis Centers Research and Prevention Network Background: Venous thromboembolism and thrombophilia are common...
  49. ROLE OF MICROPARTICLES IN THE ANTI-PHOSPHOLIPID SYNDROME
    Keith McCrae; Fiscal Year: 2006
    ..arterial and venous thrombosis, as well as recurrent fetal loss, and are the most common cause of acquired thrombophilia. In vitro studies have suggested several mechanisms that might account for the pathogenic effects of these ..
  50. Thrombosis and Hemostasis Centers Research and Prevention Network
    Stephan Moll; Fiscal Year: 2007
    ..Thrombosis and Hemostasis Centers Research and Prevention Network Background: Venous thromboembolism and thrombophilia are common...
  51. Thrombosis and Hemostasis Centers Research and Prevention Network
    Stephan Moll; Fiscal Year: 2009
    ..Thrombosis and Hemostasis Centers Research and Prevention Network Background: Venous thromboembolism and thrombophilia are common...
  52. ROLE OF MICROPARTICLES IN THE ANTI-PHOSPHOLIPID SYNDROME
    Keith McCrae; Fiscal Year: 2007
    ..arterial and venous thrombosis, as well as recurrent fetal loss, and are the most common cause of acquired thrombophilia. In vitro studies have suggested several mechanisms that might account for the pathogenic effects of these ..
  53. IMPROVED METHODS FOR IN VIVO HEPATIC GENE THERAPY
    KATHERINE PONDER; Fiscal Year: 1999
    ..permantly correct metabolic disorders such as ornithine transcarbamylase deficiencies such as hemophilia or thrombophilia. We have recently demonstrated that stable and therapeutic levels of expression of two plasma proteins can be ..
  54. IMPROVED METHODS FOR IN VIVO HEPATIC GENE THERAPY
    KATHERINE PONDER; Fiscal Year: 2001
    ..permantly correct metabolic disorders such as ornithine transcarbamylase deficiencies such as hemophilia or thrombophilia. We have recently demonstrated that stable and therapeutic levels of expression of two plasma proteins can be ..
  55. IMPROVED METHODS FOR IN VIVO HEPATIC GENE THERAPY
    KATHERINE PONDER; Fiscal Year: 2000
    ..permantly correct metabolic disorders such as ornithine transcarbamylase deficiencies such as hemophilia or thrombophilia. We have recently demonstrated that stable and therapeutic levels of expression of two plasma proteins can be ..
  56. Continuation of Thrombosis and Hemostasis Centers Research and Prevention Network
    Claire Philipp; Fiscal Year: 2009
    ..The goals of this project are to integrate Thrombophilia, Women with Bleeding Disorders, and comprehensive Hemophilia care programs under an organizational umbrella ..
  57. Continuation of Thrombosis and Hemostasis Centers Research and Prevention Network
    Claire S Philipp; Fiscal Year: 2010
    ..The goals of this project are to integrate Thrombophilia, Women with Bleeding Disorders, and comprehensive Hemophilia care programs under an organizational umbrella ..
  58. Integrating Prevention Services for Bleeding & Clotting
    Claire Philipp; Fiscal Year: 2006
    ..The goals of this project are to integrate Thrombophilia, Women with Bleeding Disorders, and comprehensive Hemophilia care programs under an organizational umbrella ..
  59. Integrating Prevention Services for Bleeding & Clotting
    Claire Philipp; Fiscal Year: 2004
    ..The goals of this project are to integrate Thrombophilia, Women with Bleeding Disorders, and comprehensive Hemophilia care programs under an organizational umbrella ..
  60. Integrating Prevention Services for Bleeding & Clotting
    Claire Philipp; Fiscal Year: 2005
    ..The goals of this project are to integrate Thrombophilia, Women with Bleeding Disorders, and comprehensive Hemophilia care programs under an organizational umbrella ..
  61. Continuation of Thrombosis and Hemostasis Centers Research and Prevention Network
    Claire Philipp; Fiscal Year: 2007
    ..The goals of this project are to integrate Thrombophilia, Women with Bleeding Disorders, and comprehensive Hemophilia care programs under an organizational umbrella ..
  62. Clinical Investigation in Pediatric Thrombosis
    Neil A Goldenberg; Fiscal Year: 2010
    ..subspecialists who have gained expertise through formal mentored training in both the field of thrombosis/ thrombophilia and the discipline of clinical investigation is limited, and many of these individuals are senior in their ..
  63. Clinical Investigation in Pediatric Thrombosis
    Neil Goldenberg; Fiscal Year: 2009
    ..subspecialists who have gained expertise through formal mentored training in both the field of thrombosis/ thrombophilia and the discipline of clinical investigation is limited, and many of these individuals are senior in their ..
  64. Clinical Investigation in Pediatric Thrombosis
    Neil Goldenberg; Fiscal Year: 2007
    ..subspecialists who have gained expertise through formal mentored training in both the field of thrombosis/ thrombophilia and the discipline of clinical investigation is limited, and many of these individuals are senior in their ..
  65. FACTOR V GENE DEFECTS IN THROMBOPHILIA
    WILLIAM KANE; Fiscal Year: 2000
    ..This information will provide important insights into the pathophysiology of APC resistance and thrombosis and may ultimately lead to novel strategies for antithrombotic therapy. ..
  66. FACTOR V GENE DEFECTS IN THROMBOPHILIA
    WILLIAM KANE; Fiscal Year: 1999
    ..This information will provide important insights into the pathophysiology of APC resistance and thrombosis and may ultimately lead to novel strategies for antithrombotic therapy. ..
  67. FACTOR V GENE DEFECTS IN THROMBOPHILIA
    WILLIAM KANE; Fiscal Year: 2001
    ..This information will provide important insights into the pathophysiology of APC resistance and thrombosis and may ultimately lead to novel strategies for antithrombotic therapy. ..
  68. Regulation of transcription termination and its link in mRNA surveillance
    Chi Ming Wong; Fiscal Year: 2011
    ..surprising that transcription termination defects are causally associated with various human diseases, such as thrombophilia, thalassemia and cancer...
  69. Gene Targets for Intraventricular Hemorrhage (IVH)
    Laura R Ment; Fiscal Year: 2010
    ..suggest familial susceptibility for IVH in VLBW twins, and several studies have investigated the role of thrombophilia, inflammatory and vascular genes in the genesis of Gr 3 - 4 IVH...
  70. Mayo Clinic Thrombosis and Hemostasis Research Center
    John A Heit; Fiscal Year: 2010
    ..To address these hypotheses, we will use the resources of the eight Thrombophilia Center Pilot sites and the Centers for Disease Control to identify susceptibility genes in high-risk VTE ..
  71. Prevention of Complications in Hemophilia Through HTCs
    Marilyn Manco Johnson; Fiscal Year: 2009
    ..proposal is to continue the direct patient care family-centered, community-based comprehensive hemophilia and thrombophilia services by supporting the successful existing structure of the five Hemophilia Treatment Centers (HTCs) in ..
  72. Prevention of Complications in Hemophilia Through HTCs
    Marilyn Manco Johnson; Fiscal Year: 2007
    ..proposal is to continue the direct patient care family-centered, community-based comprehensive hemophilia and thrombophilia services by supporting the successful existing structure of the five Hemophilia Treatment Centers (HTCs) in ..