Inherited Platelet Disorders: An Updated Overview

Neutrophil specific granule and NETosis defects in gray platelet syndrome

(2021) Cathelijn E. M. Aarts et al.   Blood Advances

Diagnostic and therapeutic caveats in Griscelli syndrome

(2021) Lina‐Maria Castaño‐Jaramillo et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Learning the Ropes of Platelet Count Regulation: Inherited Thrombocytopenias

(2021) Loredana Bury et al.   Journal of Clinical Medicine

Glanzmann thrombasthenia: genetic basis and clinical correlates

(2020) Juliana Perez Botero et al.   HAEMATOLOGICA

Hermansky–Pudlak syndrome: Mutation update

(2020) Marjan Huizing et al.   HUMAN MUTATION

RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology

(2020) Matthias Canault et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Diagnosis of Inherited Platelet Disorders on a Blood Smear

(2020) Carlo Zaninetti et al.   Journal of Clinical Medicine

Excellent Outcomes Following Hematopoietic Cell Transplantation for Wiskott-Aldrich Syndrome: A PIDTC Report

(2020) Lauri Burroughs et al.   BLOOD

Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function

(2020) Melissa V Chan et al.   HAEMATOLOGICA

Guidance on the diagnosis and management of Platelet- type von Willebrand Disease: a communication from the platelet physiology subcommittee of the ISTH

(2020) Maha Othman et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Multifaceted role of glycosylation in transfusion medicine, platelets, and red blood cells

(2020) Melissa M. Lee‐Sundlov et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

FLNA variants associated with disorders of platelet number or function

(2020) Pietro Vassallo et al.   PLATELETS

ETV6-related thrombocytopenia and platelet dysfunction

(2020) Jorge Di Paola et al.   PLATELETS

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

(2020) Marie-Christine Alessi et al.   Journal of Clinical Medicine

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

(2020) Matthew C. Sims et al.   BLOOD

Enhancer-gene rewiring in the pathogenesis of Quebec Platelet Disorder

(2020) Minggao Liang et al.   BLOOD

Inherited thrombocytopenias: history, advances and perspectives

(2020) Alan T. Nurden et al.   HAEMATOLOGICA

CAMT-MPL: Congenital Amegakaryocytic Thrombocytopenia caused by MPL mutations - Heterogeneity of a monogenic disorder - Comprehensive analysis of 56 patients

(2020) Manuela Germeshausen et al.   HAEMATOLOGICA

Clinical management, ethics and informed consent related to multi‐gene panel‐based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH

(2020) Kate Downes et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Strengths and limitations of high‐throughput sequencing for the diagnosis of inherited bleeding and platelet disorders

(2020) Fabienne Ver Donck et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

PTGS1 gene variations associated with bleeding and platelet dysfunction

(2020) Verónica Palma-Barqueros et al.   PLATELETS

ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction

(2020) Jose María Bastida et al.   PLATELETS

Platelet δ-Storage Pool Disease: An Update

(2020) Arnaud Dupuis et al.   Journal of Clinical Medicine

Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC

(2020) Serena Barozzi et al.   HAEMATOLOGICA

Population based frequency of naturally occurring loss‐of‐function variants in genes associated with platelet disorders

(2020) Joseph H. Oved et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Inherited Platelet Disorders: Diagnosis and Management

(2020) Ahmad Al-Huniti et al.   TRANSFUSION MEDICINE REVIEWS

Advances in Platelet Function Testing—Light Transmission Aggregometry and Beyond

(2020) Jessica Le Blanc et al.   Journal of Clinical Medicine

A novel genetic variant in PTGS1 affects N‐glycosylation of cyclooxygenase‐1 causing a dominant‐negative effect on platelet function and bleeding diathesis

(2020) Verónica Palma‐Barqueros et al.   AMERICAN JOURNAL OF HEMATOLOGY

Inherited thrombocytopenias: an updated guide for clinicians

(2020) Alessandro Pecci et al.   BLOOD REVIEWS

Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryocyte and platelet function defects

(2020) Fred G. Pluthero et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum

(2020) Sara Morais et al.   PLoS One

Gray Platelet Syndrome Presenting With Pancytopenia, Splenomegaly, and Bone Marrow Fibrosis

(2020) Hamza Tariq et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

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

RASGRP2 gene variations associated with platelet dysfunction and bleeding

(2019) Verónica Palma-Barqueros et al.   PLATELETS

Lentiviral gene therapy corrects platelet phenotype and function in Wiskott-Aldrich patients

(2019) Lucia Sereni et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

How I manage patients with Wiskott Aldrich syndrome

(2019) Elizabeth Rivers et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

(2019) Andreas Greinacher et al.   BLOOD

Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing

(2019) Jose María Bastida et al.   ANNALS OF MEDICINE

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

Curated disease‐causing genes for bleeding, thrombotic and platelet disorders: communication from the SSC of the ISTH

(2019) Karyn Megy et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Platelet glycoprotein VI genetic quantitative and qualitative defects

(2019) Martine Jandrot-Perrus et al.   PLATELETS

Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders

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

Lentiviral haemopoietic stem/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: interim results of a non-randomised, open-label, phase 1/2 clinical study

(2019) Francesca Ferrua et al.   Lancet Haematology

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

(2019) Claire Lentaigne et al.   BLOOD

ETV6-Related Thrombocytopenia and Leukemia Predisposition

(2019) Jorge Di Paola et al.   BLOOD

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

(2019) Carlo Zaninetti et al.   HAEMATOLOGICA

De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family

(2019) Lore De Kock et al.   PLATELETS

Next‐generation sequencing for the diagnosis of MYH9 ‐RD: predicting pathogenic variants

(2019) Loredana Bury et al.   HUMAN MUTATION

Genetic variants associated with Hermansky-Pudlak syndrome

(2019) Melissa A. Merideth et al.   PLATELETS

SLFN14 gene mutations associated with bleeding

(2019) Rachel J. Stapley et al.   PLATELETS

Gene of the issue: ANO6 and Scott Syndrome

(2019) Sarah L. Millington-Burgess et al.   PLATELETS

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

Impaired hemostatic activity of healthy transfused platelets in inherited and acquired platelet disorders: Mechanisms and implications

(2019) Robert H. Lee et al.   Science Translational Medicine

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

(2018) Simone Martinelli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation inGNEis associated with a severe form of congenital thrombocytopenia

(2018) Jane Futterer et al.   BLOOD

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

(2018) Inga Hofmann et al.   BLOOD

ADAP deficiency impairs megakaryocyte polarization with ectopic proplatelet release and causes microthrombocytopenia

(2018) Markus Spindler et al.   BLOOD

New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia

(2018) Silvia Ferrari et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

Validation of flow cytometric analysis of platelet function in patients with a suspected platelet function defect

(2018) I. van Asten et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Thrombopoietin Receptor Agonists in Hereditary Thrombocytopenias

(2018) Francesco Rodeghiero et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

TUBB1 variants and human platelet traits

(2018) Kate Burley et al.   PLATELETS

NBEAL2 mutations and bleeding in patients with gray platelet syndrome

(2018) Fred G. Pluthero et al.   PLATELETS

Inherited platelet functional disorders: General principles and practical aspects of management

(2018) Adrienne Lee et al.   TRANSFUSION AND APHERESIS SCIENCE

GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

(2018) Shoshana Revel-Vilk et al.   BLOOD

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

(2018) Eliane Berrou et al.   BLOOD

T cell defects in patients with ARPC1B germline mutations account for their combined immunodeficiency

(2018) Immacolata Brigida et al.   BLOOD

How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults

(2018) John D. Grainger et al.   BRITISH JOURNAL OF HAEMATOLOGY

A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation

(2018) Alexandre Kauskot et al.   HAEMATOLOGICA

Inherited thrombocytopenia associated with mutation of UDP-Galactose-4-Epimerase (GALE)

(2018) Aaron Seo et al.   HUMAN MOLECULAR GENETICS

TBXA2R gene variants associated with bleeding

(2018) Stuart James Mundell et al.   PLATELETS

Performance and usefulness of platelet aggregation testing

(2018) Jose Rivera et al.   PLATELETS

Inherited platelet disorders : Management of the bleeding risk

(2018) Arnaud Dupuis et al.   TRANSFUSION CLINIQUE ET BIOLOGIQUE

Molecular genetics of 22q11.2 deletion syndrome

(2018) Bernice E. Morrow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A new form of inherited thrombocytopenia caused by loss-of-function mutations in PTPRJ

(2018) Caterina Marconi et al.   BLOOD

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

(2018) Tadbir K Bariana et al.   HAEMATOLOGICA

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

(2018) Sharissa L. Latham et al.   Nature Communications

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

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

(2017) Paul Saultier et al.   HAEMATOLOGICA

Bleeding is not the main clinical issue in many patients with inherited thrombocytopaenias

(2017) F. Melazzini et al.   HAEMOPHILIA

Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies

(2017) Zandra A Jenkins et al.   HUMAN MUTATION

Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome

(2017) Fabio Candotti   JOURNAL OF CLINICAL IMMUNOLOGY

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia

(2017) Irina Pleines et al.   JOURNAL OF CLINICAL INVESTIGATION

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

(2017) Takuya Takeichi et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia

(2017) J. M. Bastida et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B

(2017) Carlos R. Ferreira et al.   MOLECULAR GENETICS AND METABOLISM

ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia

(2017) Alan T. Nurden et al.   PLATELETS

Gene of the issue: RUNX1 mutations and inherited bleeding

(2017) Neil V. Morgan et al.   PLATELETS

P2Y12 receptor gene mutations associated with bleeding

(2017) Mariangela Scavone et al.   PLATELETS

GFI1B variants associated with thrombocytopenia

(2017) David J. Rabbolini et al.   PLATELETS

ACTN1 variants associated with thrombocytopenia

(2017) Sarah K. Westbury et al.   PLATELETS

Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?

(2017) Tiago Nava et al.   PLATELETS

Spectrum of 5’UTR mutations in ANKRD26 gene in patients with inherited thrombocytopenia: c.-140C>G mutation is more frequent than expected

(2017) Silvia Ferrari et al.   PLATELETS

MYH9 gene mutations associated with bleeding

(2017) Anna Savoia et al.   PLATELETS

RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM)

(2017) Brigitte Schlegelberger et al.   SEMINARS IN HEMATOLOGY

Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

(2017) Walter H. A. Kahr et al.   Nature Communications

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

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

(2017) Paul Saultier et al.   HAEMATOLOGICA

Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?

(2016) Alan T. Nurden et al.   AMERICAN JOURNAL OF HEMATOLOGY

Rare variants inGP1BBare responsible for autosomal dominant macrothrombocytopenia

(2016) Suthesh Sivapalaratnam et al.   BLOOD

Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction

(2016) M. L. Lozano et al.   BLOOD

Megakaryocyte- and megakaryocyte precursor-related gene therapies

(2016) D. A. Wilcox   BLOOD

The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia

(2016) D. A. Arber et al.   BLOOD

Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management

(2016) Tadbir K. Bariana et al.   BRITISH JOURNAL OF HAEMATOLOGY

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

(2016) B. Johnson et al.   HAEMATOLOGICA

The kindlin family: functions, signaling properties and implications for human disease

(2016) Emanuel Rognoni et al.   JOURNAL OF CELL SCIENCE

Wiskott–Aldrich syndrome in a child presenting with macrothrombocytopenia

(2016) Jose Maria Bastida 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

New Insights Into the Treatment of Glanzmann Thrombasthenia

(2016) Man-Chiu Poon et al.   TRANSFUSION MEDICINE REVIEWS

Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg2+ homeostasis and cytoskeletal architecture

(2016) Simon Stritt et al.   Nature Communications

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

(2016) B. Johnson 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

Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia

(2015) Toshiki Takenouchi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Jacobsen syndrome: Advances in our knowledge of phenotype and genotype

(2015) Remi Favier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Diseases caused by mutations inORAI1andSTIM1

(2015) Rodrigo S. Lacruz et al.   Annals of the New York Academy of Sciences

Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1

(2015) W. S. Stevenson et al.   BLOOD

Current status and future prospects for platelet function testing in the diagnosis of inherited bleeding disorders

(2015) Natalia Dovlatova   BRITISH JOURNAL OF HAEMATOLOGY

Diagnosis and treatment of inherited thrombocytopenias

(2015) A. Pecci   CLINICAL GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of theITGA2BandITGB3Genes in a Large International Cohort

(2015) Alan T. Nurden et al.   HUMAN MUTATION

Outcomes Following Gene Therapy in Patients With Severe Wiskott-Aldrich Syndrome

(2015) Salima Hacein-Bey Abina et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects

(2015) Sarah J. Fletcher et al.   JOURNAL OF CLINICAL INVESTIGATION

Deleterious mutation in theFYBgene is associated with congenital autosomal recessive small-platelet thrombocytopenia

(2015) C. Levin et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

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

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

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

(2015) Leila Noetzli et al.   NATURE GENETICS

A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene

(2014) V. T. Manchev et al.   BLOOD

Somatic mosaicism inMYH9disorders: the need to carefully evaluate apparently healthy parents

(2014) Shinji Kunishima et al.   BRITISH JOURNAL OF HAEMATOLOGY

Hermansky-Pudlak syndrome

(2014) I. Sánchez-Guiu et al.   Hamostaseologie

Spectrum of the Mutations in Bernard-Soulier Syndrome

(2014) Anna Savoia et al.   HUMAN MUTATION

Towards the targeted management of Chediak-Higashi syndrome

(2014) Maria L Lozano et al.   Orphanet Journal of Rare Diseases

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

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

Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study

(2014) Isabel Sánchez-Guiu et al.   Orphanet Journal of Rare Diseases

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

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

Congenital platelet disorders and understanding of platelet function

(2013) Alan T. Nurden et al.   BRITISH JOURNAL OF HAEMATOLOGY

Inherited Platelet Function Disorders

(2013) A. Koneti Rao   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

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

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

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

Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: Report of a case and review of the literature

(2013) Gary Woods et al.   PEDIATRIC TRANSPLANTATION

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

(2012) Cornelis A Albers et al.   NATURE GENETICS

Heterozygous ITGA2B R995W mutation inducing constitutive activation of the  IIb 3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia

(2011) S. Kunishima et al.   BLOOD

Defects in Glanzmann thrombasthenia and LAD-III (LAD-1/v) syndrome: the role of integrin  1 and  3 in platelet adhesion to collagen

(2011) E. van de Vijver et al.   BLOOD

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

(2011) P. Nurden et al.   BLOOD

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

(2011) D. Moratto 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

Bernard-Soulier syndrome

(2011) M. C. Berndt et al.   HAEMATOLOGICA

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb  (Bolzano mutation)

(2011) P. Noris et al.   HAEMATOLOGICA

Correction of Murine Bernard–Soulier Syndrome by Lentivirus-mediated Gene Therapy

(2011) Sachiko Kanaji et al.   MOLECULAR THERAPY

Platelet gene therapy improves hemostatic function for integrin  IIb 3-deficient dogs

(2011) J. Fang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Inherited Thrombocytopenia Due toGATA-1Mutations

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

Congenital Amegakaryocytic Thrombocytopenia: Clinical Presentation, Diagnosis, and Treatment

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

Quebec platelet disorder

(2011) Catherine PM Hayward et al.   Expert Review of Hematology

The platelet P2Y12 receptor for adenosine diphosphate: congenital and drug-induced defects

(2010) M. Cattaneo   BLOOD

Modern management of severe platelet function disorders

(2010) Jayanthi Alamelu et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

Platelet receptors and signaling in the dynamics of thrombus formation

(2009) J. Rivera et al.   HAEMATOLOGICA

Jacobsen syndrome

(2009) Teresa Mattina et al.   Orphanet Journal of Rare Diseases

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

(2008) S. Kunishima et al.   BLOOD

Clinical benefit of recombinant factor VIIa in management of bleeds and surgery in two brothers suffering from the Bernard-Soulier syndrome

(2008) K. L. TEFRE et al.   HAEMOPHILIA

A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia

(2008) Ian M Morison et al.   NATURE GENETICS