Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B (Q36297753)

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9 February 2020

title

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

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9 February 2020

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intellectual disability

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based on heuristic

inferred from title

disability affecting intellectual abilities

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based on heuristic

inferred from title

author

Claire Marie Anderson

6

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9 February 2020

Maartje Nielsen

11

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9 February 2020

Alessandra Renieri

18

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9 February 2020

Francesca Mari

19

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9 February 2020

Niels Tommerup

23

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Iben Bache

24

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9 February 2020

author name string

C Halgren

1

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9 February 2020

S Kjaergaard

2

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M Bak

3

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C Hansen

4

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Z El-Schich

5

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K F Henriksen

7

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H Hjalgrim

8

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M Kirchhoff

9

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E K Bijlsma

10

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N S den Hollander

12

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C A L Ruivenkamp

13

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B Isidor

14

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C Le Caignec

15

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R Zannolli

16

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M Mucciolo

17

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B-M Anderlid

20

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J Andrieux

21

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A Dieux

22

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publication date

24 August 2011

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9 February 2020

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9 February 2020

volume

82

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issue

3

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9 February 2020

page(s)

248-255

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

9 February 2020

cites work

1 reference

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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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

Mammalian SWI/SNF--a subunit BAF250/ARID1 is an E3 ubiquitin ligase that targets histone H2B.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

BAF250B-associated SWI/SNF chromatin-remodeling complex is required to maintain undifferentiated mouse embryonic stem cells.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

Distinct mammalian SWI/SNF chromatin remodeling complexes with opposing roles in cell-cycle control

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

Evolution and functional classification of vertebrate gene deserts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

Interstitial deletion of chromosome 6q: precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

Absence makes the search grow longer

30 September 2017

1 reference

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Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

Neurodevelopmental outcome following prenatal diagnosis of an isolated anomaly of the corpus callosum.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

Identification of genomic loci contributing to agenesis of the corpus callosum

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

Agenesis of the corpus callosum in California 1983-2003: a population-based study.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

Agenesis of the corpus callosum: clinical and genetic study in 63 young patients.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

Major brain lesions detected on sonographic screening of apparently normal term neonates.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464360

10.1111/J.1399-0004.2011.01755.X

22 September 2018

Identifiers

DOI

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9 February 2020

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9 February 2020

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