Updated international consensus report on the investigation and management of primary immune thrombocytopenia

D Provan, DM Arnold, JB Bussel, BH Chong… - Blood …, 2019 - ashpublications.org
Over the last decade, there have been numerous developments and changes in treatment
practices for the management of patients with immune thrombocytopenia (ITP). This article is …

MYH9: Structure, functions and role of non-muscle myosin IIA in human disease

A Pecci, X Ma, A Savoia, RS Adelstein - Gene, 2018 - Elsevier
The MYH9 gene encodes the heavy chain of non-muscle myosin IIA, a widely expressed
cytoplasmic myosin that participates in a variety of processes requiring the generation of …

Identifying and treating refractory ITP: difficulty in diagnosis and role of combination treatment

O Miltiadous, M Hou, JB Bussel - Blood, The Journal of the …, 2020 - ashpublications.org
Immune thrombocytopenia (ITP) is the most common acquired thrombocytopenia after
chemotherapy-induced thrombocytopenia. Existing guidelines describe the management …

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

P Noris, G Biino, A Pecci, E Civaschi… - Blood, The Journal …, 2014 - ashpublications.org
Abnormalities of platelet size are one of the distinguishing features of inherited
thrombocytopenias (ITs), and evaluation of blood films is recommended as an essential step …

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

SK Westbury, E Turro, D Greene, C Lentaigne… - Genome medicine, 2015 - Springer
Background Heritable bleeding and platelet disorders (BPD) are heterogeneous and
frequently have an unknown genetic basis. The BRIDGE-BPD study aims to discover new …

Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial

C Zaninetti, P Gresele, A Bertomoro, C Klersy… - …, 2019 - pmc.ncbi.nlm.nih.gov
Patients with inherited thrombocytopenias often require platelet transfusions to raise their
platelet count before surgery or other invasive procedures; moreover, subjects with clinically …

Mutation spectrum and genotype‐phenotype correlations in a large French cohort of MYH 9‐Related Disorders

B Saposnik, S Binard, O Fenneteau… - Molecular genetics & …, 2014 - Wiley Online Library
MYH 9‐Related Disorders are a group of rare autosomal dominant platelet disorders
presenting as nonsyndromic forms characterized by macrothrombocytopenia with giant …

Expanding the genetic spectrum of TUBB1-related thrombocytopenia

V Palma-Barqueros, L Bury, S Kunishima… - Blood …, 2021 - ashpublications.org
Abstract β1-Tubulin plays a major role in proplatelet formation and platelet shape
maintenance, and pathogenic variants in TUBB1 lead to thrombocytopenia and platelet …

Diagnosis of inherited platelet disorders on a blood smear

C Zaninetti, A Greinacher - Journal of Clinical Medicine, 2020 - mdpi.com
Inherited platelet disorders (IPDs) are rare diseases featured by low platelet count and
defective platelet function. Patients have variable bleeding diathesis and sometimes …

Studies on mean platelet volume (MPV)–new editorial policy

P Harrison, AH Goodall - Platelets, 2016 - Taylor & Francis
In this issue we highlight a very topical and timely review by Noris and colleagues entitled
“New roles for MPV measurement in clinical practice?”[1], and discuss our newly proposed …