University of Birmingham Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel
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S. Watson | M. Lordkipanidzé | A. Mumford | D. Bem | M. Daly | J. Wilde | G. Lowe | B. Dawood | M. Makris
[1] S. Mundell,et al. Rapid genetic diagnosis of heritable platelet function disorders with next‐generation sequencing: proof‐of‐principle with Hermansky–Pudlak syndrome , 2012, Journal of thrombosis and haemostasis : JTH.
[2] S. Mundell,et al. An intact PDZ motif is essential for correct P2Y12 purinoceptor traffic in human platelets. , 2011, Blood.
[3] Paul J. Harrison,et al. Guidelines for the laboratory investigation of heritable disorders of platelet function , 2011, British journal of haematology.
[4] S. Honda,et al. Bleeding tendency and impaired platelet function in a patient carrying a heterozygous mutation in the thromboxane A2 receptor , 2011, Journal of thrombosis and haemostasis : JTH.
[5] S. Mundell,et al. A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis. , 2010, Blood.
[6] C. Oudin,et al. Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. , 2009, Blood.
[7] C. Hermans,et al. A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder , 2009, Journal of thrombosis and haemostasis : JTH.
[8] M. Cattaneo,et al. Results of a worldwide survey on the assessment of platelet function by light transmission aggregometry: a report from the platelet physiology subcommittee of the SSC of the ISTH , 2009, Journal of thrombosis and haemostasis : JTH.
[9] N. Heddle,et al. Diagnostic utility of light transmission platelet aggregometry: results from a prospective study of individuals referred for bleeding disorder assessments , 2009, Journal of thrombosis and haemostasis : JTH.
[10] H. Mani,et al. Standardization of light transmittance aggregometry for monitoring antiplatelet therapy: an adjustment for platelet count is not necessary , 2008, Journal of thrombosis and haemostasis : JTH.
[11] C. Hayward. Diagnostic approach to platelet function disorders. , 2008, Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis.
[12] P. Nurden,et al. Congenital disorders associated with platelet dysfunctions , 2008, Thrombosis and Haemostasis.
[13] F. Lussana,et al. Platelet aggregation studies: autologous platelet-poor plasma inhibits platelet aggregation when added to platelet-rich plasma to normalize platelet count. , 2007, Haematologica.
[14] S. Watson,et al. Reference curves for aggregation and ATP secretion to aid diagnose of platelet-based bleeding disorders: Effect of inhibition of ADP and thromboxane A2 pathways , 2007, Platelets.
[15] M. Cattaneo,et al. Congenital platelet disorders: overview of their mechanisms, diagnostic evaluation and treatment , 2006, Haemophilia : the official journal of the World Federation of Hemophilia.
[16] Gemma L. J. Fuller,et al. A novel Syk-dependent mechanism of platelet activation by the C-type lectin receptor CLEC-2. , 2006, Blood.
[17] H. Mani,et al. Use of native or platelet count adjusted platelet rich plasma for platelet aggregation measurements , 2005, Journal of Clinical Pathology.
[18] M. Cattaneo. Inherited platelet abnormalities. , 2005, Thrombosis research.
[19] A. Rao,et al. Inherited Defects in Platelet Signaling Mechanisms , 2004, Seminars in thrombosis and hemostasis.
[20] S. Watson,et al. Platelet-collagen interaction: is GPVI the central receptor? , 2003, Blood.
[21] M. Cattaneo. Inherited platelet‐based bleeding disorders , 2003, Journal of thrombosis and haemostasis : JTH.
[22] Y. Aizawa,et al. Mutations of the Platelet Thromboxane A2 (TXA2) Receptor in Patients Characterized by the Absence of TXA2–induced Platelet Aggregation despite Normal TXA2 Binding Activity , 1999, Thrombosis and Haemostasis.
[23] Y. Aizawa,et al. Pathogenetic Analysis of Five Cases with a Platelet Disorder Characterized by the Absence of Thromboxane A2(TXA2)-Induced Platelet Aggregation in Spite of Normal TXA2 Binding Activity , 1996, Thrombosis and Haemostasis.
[24] S. Narumiya,et al. Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder. , 1994, The Journal of clinical investigation.
[25] S. Mundell,et al. Phenotypic approaches to gene mapping in platelet function disorders , 2010, Hämostaseologie.
[26] Colin A. Johnson,et al. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). , 2006, American journal of human genetics.