(Q33391893)

26 July 2017

title

FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia (English)

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26 July 2017

main subject

Giant platelet disorder

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periventricular nodular heterotopia

inferred from title

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Shinji Kunishima

1

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26 July 2017

Yoshimi Ito-Yamamura

2

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26 July 2017

Akira Hayakawa

3

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26 July 2017

Toshimichi Yamamoto

4

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26 July 2017

Hidehiko Saito

5

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26 July 2017

publication date

16 September 2010

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Journal of Human Genetics

26 July 2017

published in

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26 July 2017

volume

55

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26 July 2017

issue

12

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26 July 2017

page(s)

844-846

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Periventricular heterotopia associated with chromosome 5p anomalies

26 July 2017

cites work

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https://api.crossref.org/works/10.1038%2FJHG.2010.114

Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

Familial periventricular nodular heterotopia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

Filamin A: phenotypic diversity

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

The many faces of filamin: a versatile molecular scaffold for cell motility and signalling

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

The cytoplasmic domain of the alpha-subunit of glycoprotein (GP) Ib mediates attachment of the entire GP Ib-IX complex to the cytoskeleton and regulates von Willebrand factor-induced changes in cell morphology

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

The cytoskeleton of the resting human blood platelet: structure of the membrane skeleton and its attachment to actin filaments

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

Genetic abnormalities of Bernard-Soulier syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

Congenital macrothrombocytopenias

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

Expression of low-frequency Ala108Pro substitution in the platelet glycoprotein Ibbeta gene

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

Performing the exact test of Hardy-Weinberg proportion for multiple alleles

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.114

7 January 2021

Identifiers

DOI

10.1038/JHG.2010.114

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26 July 2017

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