Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44. (Q54424155)

29 May 2018

title

Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44. (English)

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3

Mark A Tarnopolsky

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29 May 2018

author name string

David Wang

series ordinal

1

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29 May 2018

Susan Zeesman

series ordinal

2

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29 May 2018

Małgorzata J M Nowaczyk

series ordinal

4

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29 May 2018

language of work or name

English

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publication date

21 June 2013

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29 May 2018

American Journal of Medical Genetics

published in

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volume

161A

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29 May 2018

issue

8

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page(s)

2016-2019

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29 May 2018

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35999

Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): further delineation of trisomies 1q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35999

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35999

Duplication dup(1)(q41q44) defined by fluorescence in situ hybridization: delineation of the 'trisomy 1q42-->qter syndrome'.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35999

Akt signalling in health and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35999

Somatic activation of AKT3 causes hemispheric developmental brain malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35999

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35999

A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35999

Trisomy 1q42 --> qter in a sister and brother: further delineation of the "trisomy 1q42 --> qter syndrome".

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35999

Monosomy and trisomy 1q44-qter in two sisters originating from a half cryptic 1q;15p translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35999

RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35999

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.35999

1 reference

29 May 2018

PubMed ID

23794269

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29 May 2018