Strengths and Weaknesses of Light Transmission Aggregometry in Diagnosing Hereditary Platelet Function Disorders

Update on diagnostic testing for platelet function disorders: What is practical and useful?

(2019) Catherine P. M. Hayward et al.   International Journal of Laboratory Hematology

Standardization of Light Transmission Aggregometry for Diagnosis of Platelet Disorders: An Inter-Laboratory External Quality Assessment

(2019) Karina Althaus et al.   THROMBOSIS AND HAEMOSTASIS

Catalytic dysregulation of SHP2 leading to Noonan syndromes impacts on platelet signaling and functions

(2019) Marie Bellio et al.   BLOOD

Platelet dysfunction caused by a novel thromboxane A2 receptor mutation and congenital thrombocytopenia in a case of mild bleeding

(2019) Peter Bugert et al.   PLATELETS

Functional characterization of recombinant snake venom rhodocytin: rhodocytin mutant blocks CLEC-2/podoplanin-dependent platelet aggregation and lung metastasis

(2018) T. Sasaki et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

A mutation of the human EPHB2 gene leads to a major platelet functional defect

(2018) Eliane Berrou et al.   BLOOD

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features

(2017) Paul Saultier et al.   HAEMATOLOGICA

Receptor homodimerization plays a critical role in a novel dominant negative P2RY12 variant identified in a family with severe bleeding

(2017) S. J. Mundell et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features

(2017) Paul Saultier et al.   HAEMATOLOGICA

Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH

(2015) P. Gresele et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Identification of a new dysfunctional platelet P2Y12 receptor variant associated with bleeding diathesis

(2014) A. Lecchi et al.   BLOOD

Diagnosis of inherited diseases of platelet function

(2014) R. Knöfler et al.   Hamostaseologie

Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding

(2014) Matthias Canault et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey

(2014) P. Gresele et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

A novel mutation in the P2Y12receptor and a function-reducing polymorphism in protease-activated receptor 1 in a patient with chronic bleeding

(2014) Y. M. Patel et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Mechanisms underlying platelet function defect in a pedigree with familial platelet disorder with a predisposition to acute myelogenous leukemia: potential role for candidate RUNX1 targets

(2014) A. C. Glembotsky et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

A novel thromboxane A2 receptor N42S variant results in reduced surface expression and platelet dysfunction

(2014) Shaista P. Nisar et al.   THROMBOSIS AND HAEMOSTASIS

An adenine insertion in exon 6 of humanGP6generates a truncated protein associated with a bleeding disorder in four Chilean families

(2013) V. Matus et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Effect of platelet count on platelet aggregation measured with impedance aggregometry (Multiplate™ analyzer) and with light transmission aggregometry

(2013) E. A. Femia et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Recommendations for the standardization of light transmission aggregometry: a consensus of the working party from the platelet physiology subcommittee of SSC/ISTH

(2013) M. Cattaneo et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Glanzmann Thrombasthenia: State of the Art and Future Directions

(2013) Xavier Pillois et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Platelet-Type von Willebrand Disease: New Insights into the Molecular Pathophysiology of a Unique Platelet Defect

(2013) Harmanpreet Kaur et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Bernard-Soulier Syndrome: An Update

(2013) Robert Andrews et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel

(2012) B. B. Dawood et al.   BLOOD

An intact PDZ motif is essential for correct P2Y12 purinoceptor traffic in human platelets

(2011) S. Nisar et al.   BLOOD

More on preanalytical variables affecting platelet function testing using light transmittance aggregometry

(2011) Emmanuel J. Favaloro   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

A Novel Leukocyte Adhesion Deficiency III Variant: Kindlin-3 Deficiency Results in Integrin- and Nonintegrin-Related Defects in Different Steps of Leukocyte Adhesion

(2011) P. Robert et al.   JOURNAL OF IMMUNOLOGY

Bleeding tendency and impaired platelet function in a patient carrying a heterozygous mutation in the thromboxane A2receptor

(2011) T. KAMAE et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Targeted drug therapy: The platelet side

(2011) T. Lhermusier et al.   PLATELETS

Development of North American Consensus Guidelines for Medical Laboratories That Perform and Interpret Platelet Function Testing Using Light Transmission Aggregometry

(2010) Catherine P.M. Hayward et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Agranular Platelets as a Cardinal Feature of ARC Syndrome

(2010) Seong Min Kim et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Usefulness of a flow cytometric analysis of intraplatelet vasodilator-stimulated phosphoprotein phosphorylation for the detection of patients with genetic defects of the platelet P2Y12 receptor for ADP

(2010) M. L. ZIGHETTI et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Identification and characterization of a novel P2Y12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study

(2009) M. E. Daly et al.   BLOOD

A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis

(2009) A. D. Mumford et al.   BLOOD

Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations

(2009) B. Dumont et al.   BLOOD

Haploinsufficiency of the platelet P2Y12 gene in a family with congenital bleeding diathesis

(2009) G. Fontana et al.   HAEMATOLOGICA

Presence of platelet-associated anti-glycoprotein (GP)VI autoantibodies and restoration of GPVI expression in patients with GPVI deficiency

(2009) M. AKIYAMA et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

An acquired inhibitor to the GPVI platelet collagen receptor in a patient with lupus nephritis

(2009) P. NURDEN et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder

(2009) C. HERMANS et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Platelet structural pathology in a patient with the X-linked GATA-1, R216Q mutation

(2009) J. G. White et al.   PLATELETS

CalDAG-GEFI and protein kinase C represent alternative pathways leading to activation of integrin  IIb 3 in platelets

(2008) S. M. Cifuni et al.   BLOOD

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)

(2008) David Geneviève et al.   NATURE GENETICS

P2 receptors, platelet function and pharmacological implications

(2008) Christian Gachet   THROMBOSIS AND HAEMOSTASIS