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Inherited thrombocytopenias: history, advances and perspectives

Haematologica (Roma), 2020-08, Vol.105 (8), p.2004

2020

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Congenital platelet disorders and understanding of platelet function

British journal of haematology, 2014-04, Vol.165 (2), p.165-178

2014

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Congenital disorders associated with platelet dysfunctions

Thrombosis and haemostasis, 2008-02, Vol.99 (2), p.253

2008

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Autologous platelets as a source of proteins for healing and tissue regeneration

Thrombosis and haemostasis, 2004-01, Vol.91 (1), p.4

2004

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Is the mysterious platelet receptor GPV an unsuspected major target for platelet autoantibodies?

Haematologica (Roma), 2019-06, Vol.104 (6), p.1103

2019

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High-throughput sequencing for rapid diagnosis of inherited platelet disorders: a case for a European consensus

Haematologica (Roma), 2018-01, Vol.103 (1), p.6

2018

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Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice

The Journal of clinical investigation, 2013-08, Vol.123 (8), p.3331-3342

2013

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Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

The Journal of clinical investigation, 2014-02, Vol.124 (2), p.580-591

2014

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APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis

Haematologica (Roma), 2023-03, Vol.108 (3), p.772

2023

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

Nature communications, 2016-03, Vol.7 (1), p.11097-13, Article 11097

2016

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A Cdc42/RhoA regulatory circuit downstream of glycoprotein Ib guides transendothelial platelet biogenesis

Nature communications, 2017-06, Vol.8 (1), p.15838-15838, Article 15838

2017

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Autologous preparations rich in growth factors promote proliferation and induce VEGF and HGF production by human tendon cells in culture

Journal of orthopaedic research, 2005-03, Vol.23 (2), p.281-286

2005

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Management of pregnancy for a patient with the new syndromic macrothrombocytopenia, DIAPH1-related disease

Platelets (Edinburgh), 2018-11, Vol.29 (7), p.737-738

2018

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

Nature communications, 2014-09, Vol.5 (1), p.4746-4746, Article 4746

2014

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Identification of the platelet ADP receptor targeted by antithrombotic drugs

Nature (London), 2001-01, Vol.409 (6817), p.202-207

2001

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Absence of bleeding upon dual antiplatelet therapy in a patient with a immune GPVI deficiency

Platelets (Edinburgh), 2021-07, Vol.32 (5), p.1-709

2021

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Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp)

Platelets (Edinburgh), 2018-01, Vol.29 (1), p.84-86

2018

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Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

Blood, 2017-08, Vol.130 (8), p.1026-1030

2017

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Platelet JNK1 is involved in secretion and thrombus formation

Blood, 2010-05, Vol.115 (20), p.4083-4092

2010

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Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

Blood, 2006-07, Vol.108 (1), p.81-87

2006

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Defective Zn2+ homeostasis in mouse and human platelets with α- and δ-storage pool diseases

Scientific reports, 2019-06, Vol.9 (1), p.8333-8333, Article 8333

2019

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Inherited thrombocytopenias: history, advances and perspectives

Congenital platelet disorders and understanding of platelet function

Congenital disorders associated with platelet dysfunctions

Autologous platelets as a source of proteins for healing and tissue regeneration

Is the mysterious platelet receptor GPV an unsuspected major target for platelet autoantibodies?

High-throughput sequencing for rapid diagnosis of inherited platelet disorders: a case for a European consensus

Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis

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

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

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors

A Cdc42/RhoA regulatory circuit downstream of glycoprotein Ib guides transendothelial platelet biogenesis

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

Autologous preparations rich in growth factors promote proliferation and induce VEGF and HGF production by human tendon cells in culture

Management of pregnancy for a patient with the new syndromic macrothrombocytopenia, DIAPH1-related disease

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

Identification of the platelet ADP receptor targeted by antithrombotic drugs

Absence of bleeding upon dual antiplatelet therapy in a patient with a immune GPVI deficiency

Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp)

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

Platelet JNK1 is involved in secretion and thrombus formation

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

Defective Zn2+ homeostasis in mouse and human platelets with α- and δ-storage pool diseases

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