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 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
  3. 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
  4. 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
  5. 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
  6. ncbi Thrombophilia and venous thromboembolism. International consensus statement. Guidelines according to scientific evidence
    A N Nicolaides
    Int Angiol 24:1-26. 2005
  7. ncbi 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
  8. 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
  9. 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
  10. 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

Research Grants

  1. NEWBORN SCREENING BY MULTIPLEX MOLECULAR ANALYSIS
    Edwin Naylor; Fiscal Year: 2002
  2. MUTATIONS, HORMONE THERAPY, AND VENOUS THROMBOEMBOLISM
    Bruce Psaty; Fiscal Year: 2001
  3. Structural Mechanisms for the Inhibition of Thrombosis
    JAMES HUNTINGTON; Fiscal Year: 2004
  4. THROMBOMODULIN FUNCTION IN CELLULAR PHYSIOLOGY
    Hartmut Weiler; Fiscal Year: 2007
  5. Genetic Variation in Factor IX and Thrombosis Risk
    Laura Almasy; Fiscal Year: 2006
  6. IDENTIFICATION & TREATMENT OF OSTEONECROSIS OF THE HIP
    Roy Aaron; Fiscal Year: 2003
  7. THROMBIN SIGNALING IN HEMOSTASIS AND THROMBOSIS
    Shaun Coughlin; Fiscal Year: 2004
  8. Gene Targets for Intraventricular Hemorrhage (IVH)
    Laura Ment; Fiscal Year: 2007
  9. Gene Targets for Intraventricular Hemorrhage (IVH)
    Laura Ment; Fiscal Year: 2009
  10. IMPROVED METHODS FOR IN VIVO HEPATIC GENE THERAPY
    KATHERINE PONDER; Fiscal Year: 2001

Detail Information

Publications292 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 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 ..
  3. 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...
  4. 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...
  5. 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...
  6. 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...
  7. ncbi 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
    ....
  8. 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...
  9. 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.
  10. 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...
  11. 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...
  12. 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 ..
  13. 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...
  14. ncbi 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...
  15. ncbi 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.
  16. ncbi 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.
  17. 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 ..
  18. 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)...
  19. ncbi 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...
  20. 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...
  21. 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...
  22. ncbi 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.
  23. 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 ..
  24. 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...
  25. ncbi 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...
  26. 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
  27. 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...
  28. 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)...
  29. 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.
  30. 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...
  31. 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...
  32. 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.
  33. 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
    BACKGROUND: 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)...
  34. 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...
  35. ncbi 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...
  36. 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...
  37. 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...
  38. 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...
  39. 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.
  40. 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.
  41. 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)...
  42. 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
    ..The presence of inherited thrombophilia further increases this risk...
  43. ncbi 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...
  44. ncbi Pros and cons of thrombophilia testing: cons
    S J Machin
    Department of Haematology, University College London, UK
    J Thromb Haemost 1:412-3. 2003
  45. ncbi The long-term within- and between-laboratory variability for assay of antithrombin, and proteins C and S: results derived from the external quality assessment program for thrombophilia screening of the ECAT Foundation
    P Meijer
    ECAT Foundation, Leiden, The Netherlands
    J Thromb Haemost 1:748-53. 2003
    ..It is concluded that improvement of the long-term within-laboratory test performance is the first priority in hemostasis to yield important improvements in the comparability and transferability of laboratory data...
  46. ncbi Editorial comment--Routine thrombophilia testing in stroke patients is unjustified
    Graeme J Hankey
    Stroke 34:1826-7. 2003
  47. ncbi 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...
  48. ncbi Polymorphisms in the endothelial protein C receptor gene and thrombophilia
    Pilar Medina
    Research Center, La Fe University Hospital, Valencia, Spain
    Thromb Haemost 98:564-9. 2007
    ..This review highlights the different mutations/polymorphisms reported in the EPCR gene and their association with the risk of thrombosis...
  49. ncbi Ethnic differences in markers of thrombophilia: implications for the investigation of ischemic stroke in multiethnic populations: the South London Ethnicity and Stroke Study
    Paula Jerrard-Dunne
    Department of Clinical Neurosciences, St George s Hospital Medical School, Cranmer Terrace, Tooting, London SW17 0RE, UK
    Stroke 34:1821-6. 2003
    ..This study estimated ethnic-specific reference ranges in a community population to determine the prevalence of thrombophilic states in a multiethnic stroke population...
  50. ncbi Thrombophilia and pregnancy loss
    Benjamin Brenner
    Thrombosis and Hemostasis Unit, Department of Hematology, Rambam Medical Center, Haifa, Israel
    Thromb Res 108:197-202. 2002
    A large body of evidence obtained during the past 6 years suggests a significant role for inherited thrombophilia in the development of gestational vascular complications...
  51. 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...
  52. ncbi External quality assurance of DNA testing for thrombophilia mutations
    Mark Hertzberg
    Department of Haematology, Institute of Clinical Pathology and Medical Research, Westmead Hospital, Australia
    Am J Clin Pathol 123:189-93. 2005
    ..Although encouraging, these data underscore the need for ongoing participation of molecular diagnostic laboratories in external QA programs to ensure the provision of quality genetic testing services...
  53. ncbi Hereditary thrombophilia in ethnic Omani patients
    Anil Pathare
    Department of Haematology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman
    Am J Hematol 81:101-6. 2006
    ..Of these patients, 43.58% had either or both the hyperhomocysteinemic mutations studied, whereas in 38.46% of these patients, no underlying cause for thrombophilia could be documented.
  54. ncbi Should we screen Eastern Mediterranean sickle beta-thalassemia patients for inherited thrombophilia?
    Z K Otrock
    J Thromb Haemost 3:599-600. 2005
  55. ncbi Prediction of recurrent venous thromboembolism by the activated partial thromboplastin time
    G Hron
    Department of Internal Medicine I, Medical University of Vienna, Vienna, Austria
    J Thromb Haemost 4:752-6. 2006
    BACKGROUND: Venous thromboembolism (VTE) is a multi-factorial disease. Extensive thrombophilia screening is costly and often inconclusive. Simple laboratory methods are required to predict the risk of recurrence...
  56. ncbi Primary thrombophilia in Mexico. V. A comprehensive prospective study indicates that most cases are multifactorial
    Guillermo J Ruiz-Arguelles
    Centro de Hematologia y Medicina Interna de puebla, Puebla, Mexico
    Am J Hematol 78:21-6. 2005
    ..The results are consonant with the idea that most cases of thrombophilia in Mexico are multifactorial.
  57. ncbi Genetic thrombophilia in patients with VTE in eastern Mediterranean located tertiary care center; is it time to change the algorithm for thrombophilia work up decision making?
    H Isma'eel
    American University of Beirut Medical Center, Beirut, Lebanon
    J Thromb Thrombolysis 21:267-70. 2006
    Genetic thrombophilia work up performance is subject to debate because of the utility of the information it provides regarding prognosis of recurrence of venous thromboembolism (VTE) and guidance of duration of therapy with ..
  58. ncbi Henoch-Schonlein purpura: polymorphisms in thrombophilia genes
    Efrat Dagan
    Department of Human Genetics, Rambam Medical Center and Department of Nursing, Faculty of Welfare and Social Studies, University of Haifa, Haifa, Israel
    Pediatr Nephrol 21:1117-21. 2006
    ..Studies in larger cohorts and possibly inclusion of additional factors may be needed to ascertain whether homozygoty for MTHFR 677T polymorphism can influence disease severity...
  59. ncbi Coagulation abnormalities in migraine and ischaemic cerebrovascular disease: a link between migraine and ischaemic stroke?
    F Moschiano
    L Mandic Hospital, Via L Mandic 1, Merate LC, Italy
    Neurol Sci 25:S126-8. 2004
    ..Further studies on larger samples are required to test this hypothesis...
  60. ncbi Psychological impact of testing for thrombophilic alterations
    Cristina Legnani
    Department of Angiology and Blood Coagulation Marino Golinelli, S Orsola Malpighi Hospital, Bologna, Italy
    Thromb Haemost 96:348-55. 2006
    ..before blood sampling and after receiving results, with a view to provide clear information about the aim of thrombophilia screening (TS)...
  61. 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...
  62. 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...
  63. 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
    ..placental vessels are dependent on the normal balance of procoagulant and anticoagulant mechanisms, inherited thrombophilia may be associated with fetal loss...
  64. 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...
  65. ncbi Hypercoagulation testing in ischemic stroke
    Aliyah Rahemtullah
    Coagulation Laboratory, Division of Laboratory Medicine, Department of Pathology, Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, USA
    Arch Pathol Lab Med 131:890-901. 2007
    ..The utility of laboratory testing for hypercoagulability in the setting of stroke is uncertain...
  66. ncbi Current practise of testing for inherited thrombophilia
    M Coppens
    J Thromb Haemost 5:1979-81. 2007
  67. ncbi Thrombophilia: an update
    Saskia Middeldorp
    Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
    Semin Thromb Hemost 33:563-72. 2007
  68. ncbi Use of low-molecular-weight heparin from the first trimester of pregnancy: a retrospective study of 111 consecutive pregnancies
    Philippe Deruelle
    Clinique d obstétrique, Hopital Jeanne de Flandre, CHRU de Lille, 1 rue Eugène Avinée, 59037 Lille Cedex, France
    Eur J Obstet Gynecol Reprod Biol 127:73-8. 2006
    ..During the first trimester of pregnancy, unfractionated heparin is the standard anticoagulant treatment for pregnant women at high risk of thrombosis...
  69. ncbi Assessment of coagulation and fibrinolysis in families with unexplained thrombophilia
    Iris M Wichers
    Dept of Vascular Medicine, F4 276, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Thromb Haemost 101:465-70. 2009
    ..We found that an increased ETP may serve as an intermediate phenotype for VTE and may be used to discover novel inherited risk factors by genetic linkage analysis...
  70. 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...
  71. ncbi Laboratory investigation of thrombophilia
    A Tripodi
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Internal Medicine, University and IRCCS Maggiore Hospital, Via Pace 9, 20122 Milan, Italy
    Clin Chem 47:1597-606. 2001
    Until recently, laboratory diagnosis of thrombophilia was based on investigation of the plasmatic anticoagulant pathways to detect antithrombin, protein C, and protein S deficiencies and on the search for dysfibrinogenemia and anti-..
  72. ncbi Thrombophilia, thrombosis and pregnancy
    A Eldor
    Institute of Hematology, Sackler Faculty of Medicine, Tel Aviv University, Israel
    Thromb Haemost 86:104-11. 2001
    ..Maternal age, previous history of VTE, Caesarean section and the presence of thrombophilia, significantly increase the risk of VTE...
  73. ncbi D-dimer as a risk factor for deep vein thrombosis: the Leiden Thrombophilia Study
    Astrid C M Andreescu
    Department of Medicine, University of Vermont, Burlington, USA
    Thromb Haemost 87:47-51. 2002
    ..Persistence of this association in the absence of other hemostatic risk factors for DVT suggests that high D-dimer may be related to other, as yet unknown, risk factors for venous thrombosis. Confirmation of these findings is desirable...
  74. 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
    ....
  75. ncbi Maternal and fetal inherited thrombophilias are not related to the development of severe preeclampsia
    J C Livingston
    Department of Maternal-Fetal Medicine, University of Tennessee, Memphis, TN, USA
    Am J Obstet Gynecol 185:153-7. 2001
    ..CONCLUSION: Inherited thrombophilias are not associated with severe preeclampsia...
  76. ncbi 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...
  77. ncbi 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...
  78. ncbi Increased risk of intraventricular hemorrhage in preterm infants with thrombophilia
    J Petaja
    Hospital for Children and Adolescents, University of Helsinki, Stenbackinkatu 11, FIN 00290 Helsinki, Finland
    Pediatr Res 49:643-6. 2001
    ..Thus, Gln506-FV may be a risk factor of IVH. The risk of IVH in a premature infant with Gln506-FV or other established thrombophilic coagulation abnormality may be considerable...
  79. ncbi Thrombophilia in women with pregnancy-associated complications: fetal loss and pregnancy-related venous thromboembolism
    M Kovac
    Blood Transfusion Institute of Serbia, Haemostasis Department, Clinical Centre of Serbia, Belgrade, Serbia
    Gynecol Obstet Invest 69:233-8. 2010
    Existing data regarding the prevalence of thrombophilia in women with pregnancy complications are conflicting.
  80. ncbi Factor V Leiden thrombophilia
    Jody Lynn Kujovich
    Northwest Cancer Specialists, Portland, OR 97227, USA
    Genet Med 13:1-16. 2011
    ..In the absence of evidence that early diagnosis reduces morbidity or mortality, decisions regarding testing at-risk family members should be made on an individual basis...
  81. ncbi Rapid multiplexed genotyping for hereditary thrombophilia by SELDI-TOF mass spectrometry
    Shangbin Yang
    Department of Pathology, Center for Personalized Health Care, College of Medicine, Ohio State University, 410 West 10th Avenue, Columbus, OH 43210, USA
    Diagn Mol Pathol 19:54-61. 2010
    ..This novel method is fast, accurate, and reproducible, and thus provides an excellent platform to promote personalized medicine in the management of clotting disorders...
  82. ncbi Influence of thrombophilia on risk of recurrent venous thromboembolism while on warfarin: results from a randomized trial
    Clive Kearon
    McMaster University, Hamilton, ON
    Blood 112:4432-6. 2008
    ..5-1.9) or conventional-intensity (INR, 2.0-3.0) anticoagulant therapy were tested for thrombophilia and followed for a mean of 2.3 years. One or more thrombophilic defects were present in 42% of patients...
  83. ncbi Should patients with venous thromboembolism be screened for thrombophilia?
    James E Dalen
    University of Arizona, 1840 E River Road, Suite 120, Tucson, AZ 85718, USA
    Am J Med 121:458-63. 2008
    ..The first specific cause to be identified was antithrombin III deficiency. Many other causes of thrombophilia, both genetic and acquired, have been discovered since then...
  84. ncbi [Thrombophilia and thrombosis in children--lessons from cerebral sinus vein thrombosis registry of a tertiary center]
    Dalia Waldman
    The Children Hematology Institute and The Thrombosis and Hemostasis Unit, The Edmond and Lily Safra Children s Hospital, Sheba Medical Center, and Sackler Faculty of Medicine, Tel Aviv University
    Harefuah 149:270-3, 337. 2010
    ..67 per 100,000 children. The etiology and pathophysiology of SVT in the pediatric population is stilt poorty understood, and the role of thrombophilic risk factors remains to be elucidated...
  85. ncbi [Early termination of the multicentre randomised clinical trial to evaluate the benefit of testing for thrombophilia following a first venous thromboembolism: the NOSTRADAMUS study]
    D M Cohn
    Academisch Medisch Centrum Universiteit van Amsterdam, afd Vasculaire Geneeskunde, Meibergdreef 9, 1105 AZ Amsterdam
    Ned Tijdschr Geneeskd 152:2093-4. 2008
    ..We advise restraint with respect to testing for thrombophilia in patients with a first deep vein thrombosis or pulmonary embolism, as the benefit of this procedure has yet ..
  86. ncbi A quantitative trait locus influencing free plasma protein S levels on human chromosome 1q: results from the Genetic Analysis of Idiopathic Thrombophilia (GAIT) project
    Laura Almasy
    Department of Genetics, Southwest Foundation for Biomedical Research, PO Box 760549, San Antonio, TX 78245 0549, USA
    Arterioscler Thromb Vasc Biol 23:508-11. 2003
    ..As part of the Genetic Analysis of Idiopathic Thrombophilia (GAIT) project, we conducted a genome-wide linkage screen to localize genes influencing variation in free PS (..
  87. ncbi Primary upper-extremity deep vein thrombosis: high prevalence of thrombophilic defects
    Mariela F Hendler
    Departamento de Hemostasia y Trombosis, Instituto de Investigaciones Hematologicas Mariano R Castex, Academia Nacional de Medicina de Buenos Aires, Buenos Aires, Argentina
    Am J Hematol 76:330-7. 2004
    ..Hypercoagulable status may play a significant role in both groups. Screening for local anatomical abnormalities and thrombophilia should be included in the evaluation of primary UEDVT.
  88. ncbi Foetal growth restriction in children with prothrombotic risk factors
    R von Kries
    Institute for Social Paediatrics and Adolescent Medicine, Ludwig-Maximilians-University Munich, Germany
    Thromb Haemost 86:1012-6. 2001
    ..The analyses were based on 375 Caucasian children screened at the Monster childhood thrombophilia centre with complete data for all prothrombotic risk factors (factor V G1691A, prothrombin G20210A, elevated ..
  89. ncbi The contribution of inherited and acquired thrombophilic defects, alone or combined with antiphospholipid antibodies, to venous and arterial thromboembolism in patients with systemic lupus erythematosus
    Jan Leendert P Brouwer
    Division of Haemostasis, Thrombosis and Rheology, Department of Hematology, University Hospital Groningen The Netherlands
    Blood 104:143-8. 2004
    ..In conclusion, factor V Leiden and the prothrombin mutation contribute to the risk of VTE in patients with SLE, and potentiate this risk when one of these thrombophilic defects are combined with LA and/or ACAs...
  90. ncbi [Frequency of antiphospholipid antibodies and factor V (G1691A), prothrombin (G20210A) gene polimorphism among women with pregnancy complications]
    Marcin Rajewski

    Pol Arch Med Wewn 115:417-25. 2006
    b>Thrombophilia these days is a subject of many medical research including obstetric and gynecology where causing feto-maternal complications...
  91. ncbi Risk of pregnancy-related venous thrombosis in carriers of severe inherited thrombophilia
    I Martinelli
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital, University of Milan, Italy
    Thromb Haemost 86:800-3. 2001
    ..On the basis of these findings we recommend that these women receive anticoagulant prophylaxis at least in the postpartum, that should perhaps be extended to the whole pregnancy in homozygous carriers...
  92. ncbi Prothrombin A19911G polymorphism and the risk of venous thromboembolism
    I Martinelli
    Department of Internal Medicine and Medical Specialties, A Bianchi Bonomi Haemophilia and Thrombosis Center, University of Milan, and IRCCS Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena Foundation, Milan, Italy
    J Thromb Haemost 4:2582-6. 2006
    ..The A > G polymorphism at position 19911 of the prothrombin gene is associated with increased plasma prothrombin levels but its role as a risk factor for venous thromboembolism (VTE) is not established...
  93. ncbi The impact of dalteparin (Fragmin) on thrombin generation in pregnant women with venous thromboembolism: significance of the factor V Leiden mutation
    C M Schambeck
    Medical Department, University of Wurzburg, Germany
    Thromb Haemost 85:782-6. 2001
    Hypercoagulability is observed in patients with inherited thrombophilia, e.g. factor V Leiden (FVL) mutation. Pregnancy represents a hypercoagulable state as well...
  94. ncbi Family secrets to be disclosed
    P G Lindqvist
    Department of Obstetrics and Gynecology, Clinical Sciences, Lund University, University Hospital MAS, Malm, Sweden
    J Thromb Haemost 4:2180-1. 2006
  95. ncbi Thrombosis during pregnancy and the postpartum period
    Andra H James
    Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, NC 27710 and Cardiovascular Division, Department of Medicine, Brigham and Women s Hospital, Boston, MA, USA
    Am J Obstet Gynecol 193:216-9. 2005
    ..To describe the circumstances surrounding deep vein thrombosis among pregnant or postpartum patients enrolled in a large multicenter registry...
  96. ncbi Bleeding and hypercoagulable problems in women
    Barbara A Konkle
    Penn Comprehensive Hemophilia and Thrombosis Program, University of Pennsylvania, PA, USA
    Clin Adv Hematol Oncol 2:515-6. 2004
  97. ncbi Factor V Leiden and prothrombin G20210A polymorphisms as risk factors for miscarriage during a first intended pregnancy: the matched case-control 'NOHA first' study
    G Lissalde-Lavigne
    Hematology Laboratory, University Hospital, Nimes, France
    J Thromb Haemost 3:2178-84. 2005
    ..64, P < 0.001, respectively). These results indicate that FVL and FIIG20210A mutations are associated with a significant risk of spontaneous abortion which clinical signs occur from the 10th week on of the first intended pregnancy...
  98. ncbi Prothrombotic mutations, hormone therapy, and venous thromboembolism among postmenopausal women: impact of the route of estrogen administration
    Celine Straczek
    INSERM, Cardiovascular Epidemiology Unit, Villejuif, France
    Circulation 112:3495-500. 2005
    ..Transdermal estrogen may be safe with respect to VTE. We investigated the impact of the route of estrogen administration on the association between a prothrombotic mutation (factor V Leiden or prothrombin G20210A mutation) and VTE risk...
  99. ncbi Thrombophilia: a new potential risk factor for cervical insufficiency
    Veli-Matti Ulander
    Helsinki University Central Hospital, Department of Obstetrics and Gynaecology, PO Box 140, 00029 HUCH, Helsinki, Finland
    Thromb Res 118:705-8. 2006
  100. ncbi Pregnancy-associated venous thromboembolism in combined heterozygous factor V Leiden and prothrombin G20210A mutations
    Egle Couto
    Department of Gynecology and Obstetrics, Universidade Estadual de Campinas, Rua Alexander Fleming 101, CEP 13084-881 Campinas, , Brazil
    Sao Paulo Med J 123:286-8. 2005
    ..puerperium raise the risk of thromboembolic events, and these risks are increased in women who are carriers of thrombophilia factors...
  101. ncbi More on: factor V Leiden and prothrombin G20210A polymorphisms as risk factors for miscarriage during a first-intended pregnancy: the matched case-control 'NOHA first' study
    E Grandone
    J Thromb Haemost 4:709-10. 2006

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. 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)...
  3. 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...
  4. 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 ..
  5. 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), ..
  6. 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...
  7. 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.
  8. 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...
  9. 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...
  10. 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 ..
  11. 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 ..
  12. 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...
  13. 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. ..
  14. 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...