(Q51900044)

17 April 2018

title

Deletion of 14-3-3{varepsilon} and CRK: a clinical syndrome with macrocephaly, developmental delay, and generalized epilepsy. (English)

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17 April 2018

author

Robert J. Hopkin

series ordinal

2

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17 April 2018

author name string

Jeffrey R Tenney

series ordinal

1

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17 April 2018

Mark B Schapiro

series ordinal

3

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17 April 2018

publication date

10 September 2010

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17 April 2018

Journal of Child Neurology

published in

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17 April 2018

volume

26

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17 April 2018

issue

2

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17 April 2018

page(s)

223-227

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17 April 2018

Lissencephaly and the molecular basis of neuronal migration

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073810379638

Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810379638

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810379638

14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810379638

Physiological signals and oncogenesis mediated through Crk family adapter proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810379638

Subtelomeric imbalances in phenotypically normal individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810379638

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810379638

Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810379638

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810379638

Chromosome imbalances associated with epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810379638

Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073810379638

21 January 2018

Identifiers

DOI

10.1177/0883073810379638

1 reference

17 April 2018

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17 April 2018