(Q33379589)

26 July 2017

title

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions (English)

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26 July 2017

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Mylène Béri-Dexheimer

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26 July 2017

Véronique Latger-Cannard

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26 July 2017

Christophe Philippe

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26 July 2017

Céline Bonnet

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26 July 2017

Pascal Chambon

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26 July 2017

Virginie Roth

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26 July 2017

Marie-José Grégoire

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26 July 2017

Pierre Bordigoni

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26 July 2017

Thomas Lecompte

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26 July 2017

Bruno Leheup

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26 July 2017

Philippe Jonveaux

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26 July 2017

publication date

14 May 2008

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European Journal of Human Genetics

26 July 2017

published in

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26 July 2017

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26 July 2017

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26 July 2017

page(s)

1014-1018

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

26 July 2017

cites work

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https://api.crossref.org/works/10.1038%2FEJHG.2008.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.89

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.89

A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.89

Association of CBFA2 mutation with decreased platelet PKC-θ and impaired receptor-mediated activation of GPIIb-IIIa and pleckstrin phosphorylation: proteins regulated by CBFA2 play a role in GPIIb-IIIa activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.89

Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.89

A flow cytometric assay using mepacrine for study of uptake and release of platelet dense granule contents

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.89

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.89

Genetically distinct and clinically relevant subtypes of glioblastoma defined by array-based comparative genomic hybridization (array-CGH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.89

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.89

Regulation of synaptojanin 1 by cyclin-dependent kinase 5 at synapses

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.89

Intersectin is a negative regulator of dynamin recruitment to the synaptic endocytic zone in the central synapse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.89

The Down syndrome critical region protein RCAN1 regulates long-term potentiation and memory via inhibition of phosphatase signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.89

CLIC6, a member of the intracellular chloride channel family, interacts with dopamine D(2)-like receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.89

Rapid detection of hereditary and acquired platelet storage pool deficiency by flow cytometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.89

inferred from DOI database lookup

7 January 2021

based on heuristic

Physical findings in 21q22 deletion suggest critical region for 21q- phenotype in q22

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.89

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2008.89

1 reference

Dimensions Publication ID

26 July 2017

1030827520

0 references

1 reference