(Q38244467)

31 August 2017

title

The ARID1B phenotype: what we have learned so far. (English)

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31 August 2017

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Gijs W E Santen

1

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31 August 2017

Jill Clayton-Smith

series ordinal

2

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31 August 2017

ARID1B-CSS consortium

series ordinal

3

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31 August 2017

publication date

28 August 2014

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

31 August 2017

published in

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31 August 2017

volume

166C

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31 August 2017

issue

3

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31 August 2017

page(s)

276-289

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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

31 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31414

Unlocking Mendelian disease using exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31414

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.C.31414

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.C.31414

Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31414

ARID1B, a member of the human SWI/SNF chromatin remodeling complex, exhibits tumour-suppressor activities in pancreatic cancer cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31414

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.C.31414

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31414

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.C.31414

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31414

SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31414

Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31414

The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31414

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31414

The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31414

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31414

Coffin-Siris syndrome is a SWI/SNF complex disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31414

Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31414

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31414

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31414

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31 August 2017

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