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

5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia

(2017) Caterina Marconi et al.   Journal of Hematology & Oncology

How I diagnose and manage individuals at risk for inherited myeloid malignancies

(2016)   BLOOD

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

(2016) S. Stritt et al.   BLOOD

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

(2016) D. A. Arber et al.   BLOOD

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

(2016) Federica Melazzini et al.   HAEMATOLOGICA

Inherited platelet dysfunction and hematopoietic transcription factor mutations

(2016) Natthapol Songdej et al.   PLATELETS

Inherited thrombocytopenias—recent advances in clinical and molecular aspects

(2016) Carlo L. Balduini et al.   PLATELETS

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

Diagnosis and treatment of inherited thrombocytopenias

(2015) A. Pecci   CLINICAL GENETICS

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

(2015) Takaya Moriyama et al.   LANCET ONCOLOGY

Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults

(2015) Daria V. Babushok et al.   LEUKEMIA & LYMPHOMA

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

Interplay between Transcription Factors and the Epigenome: Insight from the Role of RUNX1 in Leukemia

(2015) Kate H. Brettingham-Moore et al.   Frontiers in Immunology

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

(2014) P. Noris et al.   BLOOD

Lessons in platelet production from inherited thrombocytopenias

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

ETV6 mutation in a cohort of 970 patients with hematologic malignancies

(2014) Q. Wang et al.   HAEMATOLOGICA

Spectrum of the Mutations in Bernard-Soulier Syndrome

(2014) Anna Savoia et al.   HUMAN MUTATION

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

(2014) Dominique Bluteau et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia

(2013) M. J. Dasouki et al.   BLOOD

ANKRD26-related thrombocytopenia and myeloid malignancies

(2013) P. Noris et al.   BLOOD

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

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

(2013) Gary Woods et al.   PEDIATRIC TRANSPLANTATION

Genomic Characterization of the Inherited Bone Marrow Failure Syndromes

(2013) Payal P. Khincha et al.   SEMINARS IN HEMATOLOGY

Myeloid malignancies: mutations, models and management

(2012) Anne Murati et al.   BMC CANCER

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

Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome

(2012) Alessandro Pecci et al.   PLoS One

Short-term eltrombopag for surgical preparation of a patient with inherited thrombocytopenia deriving from MYH9 mutation

(2012) Serena Barozzi et al.   THROMBOSIS AND HAEMOSTASIS

Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

(2011) Tommaso Pippucci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

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

Familial myelodysplastic syndromes: a review of the literature

(2011) E. Liew et al.   HAEMATOLOGICA

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

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations

(2010) A. Pecci et al.   BLOOD

Pathophysiology and management of inherited bone marrow failure syndromes

(2010) Akiko Shimamura et al.   BLOOD REVIEWS

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

Advances in the understanding of congenital amegakaryocytic thrombocytopenia

(2009) Matthias Ballmaier et al.   BRITISH JOURNAL OF HAEMATOLOGY

Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia

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