(Q33356888)

26 July 2017

1 reference

title

Inherited thrombocytopenia: when a low platelet count does not mean ITP (English)

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-05-1742

13 March 2024

1 reference

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-05-1742

13 March 2024

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-05-1742

13 March 2024

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-05-1742

13 March 2024

author name string

Jonathan G. Drachman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14504084

13 March 2024

language of work or name

English

0 references

publication date

22 September 2003

1 reference

full work available at URL

26 July 2017

http://ashpublications.org/blood/article-pdf/103/2/390/1694056/zh800204000390.pdf

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-05-1742

13 March 2024

1 reference

26 July 2017

volume

103

1 reference

26 July 2017

issue

2

1 reference

26 July 2017

page(s)

390-398

1 reference

Components of biological, including seasonal, variation in hematological measurements and plasma fibrinogen concentrations in normal humans

26 July 2017

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The role of the liver in the production of thrombopoietin compared with erythropoietin

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Molecular and transcriptional regulation of megakaryocyte differentiation

13 March 2024

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Pseudothrombocytopenia due to platelet aggregation and degranulation in blood collected in EDTA

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Pseudothrombocytopenia: a laboratory artifact with potentially serious consequences

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Occurrence and clinical significance of pseudothrombocytopenia during abciximab therapy

13 March 2024

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Thrombocytopenia associated with c7E3 Fab (abciximab).

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Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

13 March 2024

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Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

13 March 2024

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Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome

13 March 2024

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Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

13 March 2024

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

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In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis

13 March 2024

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The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo

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A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies.

13 March 2024

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An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.

13 March 2024

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FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10

13 March 2024

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

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

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Defective megakaryopoiesis and abnormal erythroid development in Fli-1 gene-targeted mice

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Newly recognized cellular abnormalities in the gray platelet syndrome

13 March 2024

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c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia

13 March 2024

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Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia

13 March 2024

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Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia

13 March 2024

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Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT)

13 March 2024

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Thrombopoietin and hematopoietic stem cell development

13 March 2024

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Role of thrombopoietin in hematopoietic stem cell and progenitor regulation

13 March 2024

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Clinical manifestations of the thrombocytopenia and absent radii (TAR) syndrome

13 March 2024

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THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR)

13 March 2024

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Defective response to thrombopoietin and impaired expression of c-mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia

13 March 2024

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

13 March 2024

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Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR).

13 March 2024

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Limb malformations and the human HOX genes

13 March 2024

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

13 March 2024

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

13 March 2024

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Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome

13 March 2024

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Binding of radioiodinated human von Willebrand factor to Bernard-Soulier, thrombasthenic and von Willebrand's disease platelets

13 March 2024

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The Wiskott-Aldrich syndrome

13 March 2024

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WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia

13 March 2024

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WIP, a protein associated with wiskott-aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells

13 March 2024

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X-linked Wiskott-Aldrich syndrome in a girl

13 March 2024

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Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1

13 March 2024

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Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation

13 March 2024

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X-linked thrombocytopenia caused by a novel mutation of GATA-1

13 March 2024

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X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction

13 March 2024

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Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation

13 March 2024

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Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions

13 March 2024

70

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-05-1742

Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia

13 March 2024

72

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-05-1742

13 March 2024

Identifiers

1 reference

26 July 2017

1 reference