(Q54265424)

27 May 2018

title

A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features. (English)

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27 May 2018

author name string

Joshua A Smith

1

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27 May 2018

Kenton R Holden

2

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27 May 2018

Michael J Friez

3

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27 May 2018

Julie R Jones

4

1 reference

27 May 2018

Michael J Lyons

5

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27 May 2018

language of work or name

English

0 references

publication date

29 August 2016

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27 May 2018

American Journal of Medical Genetics

published in

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27 May 2018

volume

170

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27 May 2018

issue

12

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27 May 2018

page(s)

3313-3318

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27 May 2018

A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37945

Dynamics of expression of ARID1A and ARID1B subunits in mouse embryos and in cells during the cell cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37945

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37945

A unique missense allele of BAF155, a core BAF chromatin remodeling complex protein, causes neural tube closure defects in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37945

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37945

Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37945

Prevalence of intellectual disability: a meta-analysis of population-based studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37945

Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37945

A comparison of family financial and employment impacts of fragile X syndrome, autism spectrum disorders, and intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37945

Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37945

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37945

ARID1B-mediated disorders: Mutations and possible mechanisms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37945

The role of BAF (mSWI/SNF) complexes in mammalian neural development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37945

Coffin-Siris syndrome is a SWI/SNF complex disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37945

Chromatin regulation by BAF170 controls cerebral cortical size and thickness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37945

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37945

1 reference

27 May 2018

1 reference

27 May 2018