(Q33402583)

26 July 2017

title

Inherited thrombocytopenias: an approach to diagnosis and management (English)

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26 July 2017

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A E Geddis

1

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26 July 2017

publication date

30 July 2012

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International Journal of Laboratory Hematology

26 July 2017

published in

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26 July 2017

volume

35

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26 July 2017

issue

1

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26 July 2017

page(s)

14-25

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Hematopoiesis: an evolving paradigm for stem cell biology

26 July 2017

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GATA transcription factors in hematologic disease

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Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia

21 January 2018

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Differentiation-dependent interactions between RUNX-1 and FLI-1 during megakaryocyte development.

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Dual requirement for the ETS transcription factors Fli-1 and Erg in hematopoietic stem cells and the megakaryocyte lineage

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Dynamic combinatorial interactions of RUNX1 and cooperating partners regulates megakaryocytic differentiation in cell line models

21 January 2018

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SCL-mediated regulation of the cell-cycle regulator p21 is critical for murine megakaryopoiesis

21 January 2018

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The birth of the platelet

21 January 2018

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Blood platelets are assembled principally at the ends of proplatelet processes produced by differentiated megakaryocytes

21 January 2018

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Cytoskeletal mechanics of proplatelet maturation and platelet release.

21 January 2018

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The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway

21 January 2018

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Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A.

21 January 2018

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Mechanisms and implications of platelet discoid shape

21 January 2018

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Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia

21 January 2018

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High shear-dependent loss of membrane integrity and defective platelet adhesion following disruption of the GPIbα-filamin interaction

21 January 2018

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The spectrin-based membrane skeleton stabilizes mouse megakaryocyte membrane systems and is essential for proplatelet and platelet formation

21 January 2018

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Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics

21 January 2018

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Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients

21 January 2018

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c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Lentiviral gene transfer regenerates hematopoietic stem cells in a mouse model for Mpl-deficient aplastic anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Successful bone marrow transplantation in a patient with c-mpl-mutated congenital amegakaryocytic thrombocytopenia from a carrier donor

21 January 2018

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21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Thrombocytopenia-absent radius syndrome: a clinical genetic study

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Defective c-Mpl signaling in the syndrome of thrombocytopenia with absent radii

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Acute myeloid leukemia in a patient with thrombocytopenia with absent radii syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Marrow transplantation for thrombocytopenia-absent radii syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Reduced-intensity conditioned allogeneic haematopoietic transplantation in an adult with Langerhans' cell histiocytosis and thrombocytopenia with absent radii.

21 January 2018

1 reference

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Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation

21 January 2018

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Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome

21 January 2018

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Multiple roles of Hoxa11 and Hoxd11 in the formation of the mammalian forelimb zeugopod

21 January 2018

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Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Human phenotypes associated with GATA-1 mutations

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Familial myelodysplastic syndromes: a review of the literature

21 January 2018

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Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia

21 January 2018

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AML-1 is required for megakaryocytic maturation and lymphocytic differentiation, but not for maintenance of hematopoietic stem cells in adult hematopoiesis

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Detailed molecular and clinical characterization of three patients with 21q deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Managing individuals with propensity to myeloid malignancies due to germline RUNX1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

The 11q terminal deletion disorder: a prospective study of 110 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Platelet storage pool deficiency in Jacobsen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Immunodeficiency mutation databases (IDbases).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Gene therapy for the Wiskott-Aldrich syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

The structure of the GPIb-filamin A complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

FlnA-null megakaryocytes prematurely release large and fragile platelets that circulate poorly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Abnormal megakaryocyte morphology and proplatelet formation in mice with megakaryocyte-restricted MYH9 inactivation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome".

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

The gray platelet syndrome: clinical spectrum of the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Thrombotic Microangiopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

A dose ranging phase I/II trial of the von Willebrand factor inhibiting aptamer ARC1779 in patients with congenital thrombotic thrombocytopenic purpura

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Frequency of platelet type versus type 2B von Willebrand disease. An international registry-based study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Critical Role of Thrombopoietin in Maintaining Adult Quiescent Hematopoietic Stem Cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

Dynamic Visualization of Thrombopoiesis Within Bone Marrow

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1751-553X.2012.01454.X

10.1111/J.1751-553X.2012.01454.X

21 January 2018

Identifiers

DOI

1 reference

26 July 2017

1 reference