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Platelet-type von Willebrand disease and type 2B von Willebrand disease: a story of nonidentical twins when two different genetic abnormalities evolve into similar phenotypes.
Othman M. Othman M. Semin Thromb Hemost. 2007 Nov;33(8):780-6. doi: 10.1055/s-2007-1000368. Semin Thromb Hemost. 2007. PMID: 18175283 Review.
Platelet-type von Willebrand disease (PT-VWD, or pseudo-VWD) and type 2B VWD share a common bleeding phenotype with different etiologies. Both PT-VWD and type 2B VWD represent an enhanced binding between the plasma von Willebrand factor ( …
Platelet-type von Willebrand disease (PT-VWD, or pseudo-VWD) and type 2B VWD share a common bleeding phenotype w …
Clinical, laboratory and therapeutic aspects of platelet-type von Willebrand disease.
Franchini M, Montagnana M, Lippi G. Franchini M, et al. Int J Lab Hematol. 2008 Apr;30(2):91-4. doi: 10.1111/j.1751-553X.2007.00978.x. Int J Lab Hematol. 2008. PMID: 18333841 Review.
Platelet-type von Willebrand disease (PT-VWD), or pseudo-VWD, is a rare inherited platelet disorder characterized by an increased affinity of the platelet membrane glycoprotein Ibalpha receptor for normal von Willebrand factor leading to …
Platelet-type von Willebrand disease (PT-VWD), or pseudo-VWD, is a rare inherited platelet disorder characterize …
Platelet-type Von Willebrand disease: three decades in the life of a rare bleeding disorder.
Othman M. Othman M. Blood Rev. 2011 Jul;25(4):147-53. doi: 10.1016/j.blre.2011.03.003. Epub 2011 Apr 15. Blood Rev. 2011. PMID: 21497427 Review.
Almost thirty years has passed since the description of platelet-type von Willebrand disease. Named initially pseudo-von Willebrand disease, this mild mucocutaneous bleeding disorder has an intrinsic defect in platelets rather than …
Almost thirty years has passed since the description of platelet-type von Willebrand disease. Named initially pseudo
Laboratory diagnosis and molecular classification of von Willebrand disease.
Gadisseur A, Hermans C, Berneman Z, Schroyens W, Deckmyn H, Michiels JJ. Gadisseur A, et al. Acta Haematol. 2009;121(2-3):71-84. doi: 10.1159/000214846. Epub 2009 Jun 8. Acta Haematol. 2009. PMID: 19506352 Review.
A complete set of laboratory investigations, including bleeding time, PFA-100 closure times, factor VIII (FVIII) coagulant activity (FVIII:C), von Willebrand factor (VWF) ristocetin cofactor (VWF:RCo), collagen binding (VWF:CB), antigen (VWF:Ag) and propeptide (VWFp …
A complete set of laboratory investigations, including bleeding time, PFA-100 closure times, factor VIII (FVIII) coagulant activity (FVIII:C …
Characterization of recessive severe type 1 and 3 von Willebrand Disease (VWD), asymptomatic heterozygous carriers versus bloodgroup O-related von Willebrand factor deficiency, and dominant type 1 VWD.
Michiels JJ, Berneman Z, Gadisseur A, van der Planken M, Schroyens W, van de Velde A, van Vliet H. Michiels JJ, et al. Clin Appl Thromb Hemost. 2006 Jul;12(3):277-95. doi: 10.1177/1076029606291401. Clin Appl Thromb Hemost. 2006. PMID: 16959681 Free article. Review.
Recessive type 3 von Willebrand disease (VWD) is caused by homozygosity or double heterozygosity for two non-sense mutations (null alleles). ...Recessive type 1 VWD differs from type 3 VWD by the presence of detectable von Willebrand factor: ant …
Recessive type 3 von Willebrand disease (VWD) is caused by homozygosity or double heterozygosity for two non-sense muta …
Characterization, classification, and treatment of von Willebrand diseases: a critical appraisal of the literature and personal experiences.
Michiels JJ, Gadisseur A, Budde U, Berneman Z, van der Planken M, Schroyens W, van de Velde A, van Vliet H. Michiels JJ, et al. Semin Thromb Hemost. 2005 Nov;31(5):577-601. doi: 10.1055/s-2005-922230. Semin Thromb Hemost. 2005. PMID: 16276467 Review.
Recessive type 3 von Willebrand disease (vWD) is a severe hemophilia-like bleeding disorder caused by homozygosity or double heterozygosity for two nonsense mutations (null alleles) and characterized by a strongly prolonged bleeding time (BT), absence of rist …
Recessive type 3 von Willebrand disease (vWD) is a severe hemophilia-like bleeding disorder caused by homozygosity or d …
Thrombotic and Hemorrhagic Conditions Due to a Gain of Function of Coagulation Proteins: A Special Type of Clotting Disorders.
Girolami A, Cosi E, Ferrari S, Lombardi A, Fabris F. Girolami A, et al. Clin Appl Thromb Hemost. 2018 May;24(4):560-565. doi: 10.1177/1076029617721012. Epub 2017 Aug 4. Clin Appl Thromb Hemost. 2018. PMID: 28774197 Free PMC article. Review.
The condition involves polymorphisms of factor V and factor II, factor IX, von Willebrand disease, thrombomodulin, tissue factor pathway inhibitor, and thrombin activatable fibrinolysis inhibitor. ...They should also be distinguished as cases of true gain of …
The condition involves polymorphisms of factor V and factor II, factor IX, von Willebrand disease, thrombomodulin, tiss …
von Willebrand factor: clinical features of inherited and acquired disorders.
Bloom AL. Bloom AL. Mayo Clin Proc. 1991 Jul;66(7):743-51. doi: 10.1016/s0025-6196(12)62088-6. Mayo Clin Proc. 1991. PMID: 2072762 Review.
The physiologic mechanisms that influence plasma levels of von Willebrand factor (vWF) are poorly understood but include race, blood group, age, pregnancy, exercise, and adrenergic and neurohumoral stimuli. Inherited abnormalities in von Willebrand's …
The physiologic mechanisms that influence plasma levels of von Willebrand factor (vWF) are poorly understood but include race, …
Hypothyroidism: diversity of presentation.
Tachman ML, Guthrie GP Jr. Tachman ML, et al. Endocr Rev. 1984 Summer;5(3):456-65. doi: 10.1210/edrv-5-3-456. Endocr Rev. 1984. PMID: 6381038 Review.
Hypothyroidism is an easily treated, frequent disease, and can be misdiagnosed for years before becoming apparent. Although its symptoms are usually readily reversible with treatment, lack of recognition of its rarer signs and symptoms can lead to unnecessary morbidity. Aw …
Hypothyroidism is an easily treated, frequent disease, and can be misdiagnosed for years before becoming apparent. Although its sympt …
[Rare VPS33B gene mutation combined with GP1BA mutation causes severe decrease in plasma VWF levels: a case report and literature review].
Ma SQ, Bai X, Cao LJ, Ma ZN, Ding ZX, Yu ZJ, Jiang M. Ma SQ, et al. Zhonghua Xue Ye Xue Za Zhi. 2024 Jun 14;45(6):602-605. doi: 10.3760/cma.j.cn121090-20231216-00317. Zhonghua Xue Ye Xue Za Zhi. 2024. PMID: 39134495 Free PMC article. Review. Chinese.
A 28-year-old woman was found to have coagulation factor activity (FC) <1% and von Willebrand factor antigen (VWFAg) <1% during routine prenatal examinations. No pathogenic variation was found in the exon region of the VWF gene using next-generation sequencing …
A 28-year-old woman was found to have coagulation factor activity (FC) <1% and von Willebrand factor antigen (VWFAg) <1% …