Diagnosis of Inherited Platelet Disorders on a Blood Smear

Mechanisms of thrombocytopenia in platelet-type Von Willebrand Disease

(2019) Loredana Bury et al.   HAEMATOLOGICA

Diagnosis of hereditary platelet disorders in the era of next-generation sequencing:”primum non nocere”

(2019) Andreas Greinacher et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it any easier

(2019) Andreas Greinacher et al.   BLOOD

Eltrombopag in preparation for surgery in patients with severe MYH9 ‐related thrombocytopenia

(2019) Carlo Zaninetti et al.   AMERICAN JOURNAL OF HEMATOLOGY

Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders

(2019) Kate Downes et al.   BLOOD

Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia

(2019) Pallavi Galera et al.   International Journal of Laboratory Hematology

Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders

(2019) José María Bastida et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

(2019) Claire Lentaigne et al.   BLOOD

Eltrombopag for the treatment of inherited thrombocytopenias: a phase 2 clinical trial

(2019) Carlo Zaninetti et al.   HAEMATOLOGICA

Women and inherited bleeding disorders – A review with a focus on key challenges for 2019

(2019) R. Winikoff et al.   TRANSFUSION AND APHERESIS SCIENCE

Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor

(2019) Anna Karastaneva et al.   JOURNAL OF MEDICAL GENETICS

Pegasus causes inherited thrombocytopenia

(2019) Alessandro M. Vannucchi   BLOOD

Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC

(2019) Paolo Gresele et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

EDTA-related degranulation mimicking Storage Pool Disease

(2018) Marco Amoruso et al.   AMERICAN JOURNAL OF HEMATOLOGY

Mutation inGNEis associated with a severe form of congenital thrombocytopenia

(2018) Jane Futterer et al.   BLOOD

Gray platelet syndrome mimicking atypical autoimmune lymphoproliferative syndrome: the key is in the blood smear

(2018) Orna Steinberg-Shemer et al.   BLOOD

High-throughput sequencing for diagnosing platelet disorders: lessons learned from exploring the causes of bleeding disorders

(2018) J. Heremans et al.   International Journal of Laboratory Hematology

GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

(2018) Shoshana Revel-Vilk et al.   BLOOD

Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia

(2018) Qi Wang et al.   CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS

One hundred percent survival after transplantation of 34 patients with Wiskott-Aldrich syndrome over 20 years

(2018) Reem Ahmed Elfeky et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The 2016 WHO classification of acute myeloid leukemia: What the practicing clinician needs to know

(2018) Daniel A. Arber   SEMINARS IN HEMATOLOGY

Bleeding risk of surgery and its prevention in patients with inherited platelet disorders

(2017) Sara Orsini et al.   HAEMATOLOGICA

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

(2017) José M. Bastida et al.   HAEMATOLOGICA

Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome

(2017) Fabio Candotti   JOURNAL OF CLINICAL IMMUNOLOGY

High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders

(2017) K. Freson et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders

(2017) A. Greinacher et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases

(2017) C. Zaninetti et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Hematopoietic stem cell transplantation for the treatment of leukocyte adhesion deficiency type III

(2017) Paul Saultier et al.   Pediatrics and Neonatology

ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia

(2017) Alan T. Nurden et al.   PLATELETS

GATA1 gene variants associated with thrombocytopenia and anemia

(2017) Kathleen Freson et al.   PLATELETS

Bleeding risk of surgery and its prevention in patients with inherited platelet disorders

(2017) Sara Orsini et al.   HAEMATOLOGICA

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

(2017) José M. Bastida et al.   HAEMATOLOGICA

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

(2016) S. Stritt et al.   BLOOD

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

(2016) I. Simeoni et al.   BLOOD

Inherited platelet disorders: toward DNA-based diagnosis

(2016) C. Lentaigne et al.   BLOOD

Guidelines for the use of platelet transfusions

(2016) Lise J. Estcourt et al.   BRITISH JOURNAL OF HAEMATOLOGY

Clinical and pathogenic features of ETV6 -related thrombocytopenia with predisposition to acute lymphoblastic leukemia

(2016) Federica Melazzini et al.   HAEMATOLOGICA

Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia

(2016) K. Kitamura et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing

(2016) Annabel Maclachlan et al.   PLATELETS

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

(2016) Ernest Turro et al.   Science Translational Medicine

Inherited Platelet Function Disorders: Algorithms for Phenotypic and Genetic Investigation

(2016) Loredana Bury et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Genetic basis of myeloid transformation in familial platelet disorder/acute myeloid leukemia patients with haploinsufficient RUNX1 allele

(2016) M Sakurai et al.   Blood Cancer Journal

Clinical and pathogenic features of ETV6 -related thrombocytopenia with predisposition to acute lymphoblastic leukemia

(2016) Federica Melazzini et al.   HAEMATOLOGICA

Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia

(2015) Tetsuya Niihori et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Platelet Transfusion: A Clinical Practice Guideline From the AABB

(2015) Richard M. Kaufman et al.   ANNALS OF INTERNAL MEDICINE

Diagnostic biomarker for ACTN1 macrothrombocytopenia

(2015) S. Kunishima et al.   BLOOD

Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia

(2015) A. J. Gerrits et al.   BLOOD

Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia

(2015) L. Bury et al.   HAEMATOLOGICA

Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study

(2015) Takaya Moriyama et al.   LANCET ONCOLOGY

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

(2015) Thomas Markello et al.   MOLECULAR GENETICS AND METABOLISM

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

(2015) Michael Y Zhang et al.   NATURE GENETICS

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

(2015) Leila Noetzli et al.   NATURE GENETICS

A family having type 2B von Willebrand disease with a novel VWF p.R1308S mutation: Detection of characteristic platelet aggregates on peripheral blood smears as the key aspect of diagnosis

(2015) Kyoko Hatta et al.   THROMBOSIS RESEARCH

Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia

(2015) L. Bury et al.   HAEMATOLOGICA

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

(2014) P. Noris et al.   BLOOD

The effect of desmopressin on platelet function: a selective enhancement of procoagulant COAT platelets in patients with primary platelet function defects

(2014) G. Colucci et al.   BLOOD

Lessons in platelet production from inherited thrombocytopenias

(2014) Alessandro Pecci et al.   BRITISH JOURNAL OF HAEMATOLOGY

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

(2014) P. Noris et al.   HAEMATOLOGICA

Spectrum of the Mutations in Bernard-Soulier Syndrome

(2014) Anna Savoia et al.   HUMAN MUTATION

Cochlear implantation is safe and effective in patients with MYH9-related disease

(2014) Alessandro Pecci et al.   Orphanet Journal of Rare Diseases

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

(2014) V. Nesin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Megakaryocyte-specific Profilin1-deficiency alters microtubule stability and causes a Wiskott–Aldrich syndrome-like platelet defect

(2014) Markus Bender et al.   Nature Communications

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

(2013) Shinji Kunishima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ANKRD26-related thrombocytopenia and myeloid malignancies

(2013) P. Noris et al.   BLOOD

Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study

(2013) Patrizia Noris et al.   BRITISH JOURNAL OF HAEMATOLOGY

TUBB1mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia

(2013) Shinji Kunishima et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Points to consider for informed consent for genome/exome sequencing

(2013)   GENETICS IN MEDICINE

MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations

(2013) Alessandro Pecci et al.   HUMAN MUTATION

Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling

(2013) Shinji Hirata et al.   JOURNAL OF CLINICAL INVESTIGATION

Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule outMYH9disorders

(2013) K. Kitamura et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Inherited thrombocytopenias frequently diagnosed in adults

(2013) C. L. Balduini 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

Genotyping and phenotyping of platelet function disorders

(2013) S. P. Watson et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome

(2013) Davide Monteferrario et al.   NEW ENGLAND JOURNAL OF MEDICINE

Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome

(2013) A. Aiuti et al.   SCIENCE

Polyubiquinated protein depots in platelets and megakaryocytes from patients with ANKRD26-RT

(2013) Bjoern Kraemer et al.   THROMBOSIS AND HAEMOSTASIS

Sitosterolemia's stomatocytosis and macrothrombocytopenia

(2012) A. T. Neff   BLOOD

MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations

(2012) I. Antony-Debre et al.   BLOOD

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and  -granule deficiency

(2012) R. Bottega et al.   HAEMATOLOGICA

Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombocytopenia

(2012) Vittorio Necchi et al.   THROMBOSIS AND HAEMOSTASIS

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

(2011) P. Nurden et al.   BLOOD

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

(2011) P. Noris et al.   BLOOD

Guidelines for the laboratory investigation of heritable disorders of platelet function

(2011) Paul Harrison et al.   BRITISH JOURNAL OF HAEMATOLOGY

Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias

(2011) Carlo L. Balduini et al.   BRITISH JOURNAL OF HAEMATOLOGY

Inherited Thrombocytopenia Due toGATA-1Mutations

(2011) Patrick Millikan et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Thrombocytopenia-Absent Radius Syndrome

(2011) Helga Toriello   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Congenital Amegakaryocytic Thrombocytopenia: Clinical Presentation, Diagnosis, and Treatment

(2011) Matthias Ballmaier et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

(2010) M. H. Albert et al.   BLOOD

ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders

(2010) F. RODEGHIERO et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder

(2010) Daniela De Rocco et al.   THROMBOSIS AND HAEMOSTASIS

Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation

(2009) Alessandro Pecci et al.   THROMBOSIS AND HAEMOSTASIS

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy

(2008) C. J. Owen et al.   BLOOD

Mutation of the  1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly

(2008) S. Kunishima et al.   BLOOD

Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients

(2008) A. B. Federici et al.   BLOOD

Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome)

(2008) A. Pecci et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION