(Q28274275)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20186804%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH (English)

1 reference

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18 January 2020

7

1 reference

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18 January 2020

Brett H Graham

10

1 reference

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18 January 2020

author name string

S U Dhar

1

1 reference

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18 January 2020

D del Gaudio

2

1 reference

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18 January 2020

J R German

3

1 reference

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18 January 2020

S U Peters

4

1 reference

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18 January 2020

Z Ou

5

1 reference

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18 January 2020

P I Bader

6

1 reference

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18 January 2020

M Blazo

8

1 reference

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18 January 2020

C W Brown

9

1 reference

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18 January 2020

T A Grebe

11

1 reference

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18 January 2020

S Lalani

12

1 reference

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18 January 2020

M Irons

13

1 reference

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18 January 2020

S Sparagana

14

1 reference

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18 January 2020

M Williams

15

1 reference

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18 January 2020

J A Phillips

16

1 reference

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18 January 2020

A L Beaudet

17

1 reference

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18 January 2020

P Stankiewicz

18

1 reference

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18 January 2020

A Patel

19

1 reference

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18 January 2020

S W Cheung

20

1 reference

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18 January 2020

T Sahoo

21

1 reference

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18 January 2020

language of work or name

English

0 references

publication date

1 March 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20186804%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

18 January 2020

published in

1 reference

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18 January 2020

volume

152A

1 reference

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18 January 2020

issue

3

1 reference

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18 January 2020

page(s)

573-581

1 reference

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Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

18 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Contribution of SHANK3 mutations to autism spectrum disorder

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Molecular and phenotypic characterization of ring chromosome 22

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

FISH-mapping of a 100-kb terminal 22q13 deletion

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

20 March 2017

22q13 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

The Shank family of scaffold proteins

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Regulation of dendritic spine morphology and synaptic function by Shank and Homer

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

9 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Synapse signalling complexes and networks: machines underlying cognition

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Phenotypic correlations in patients with ring chromosome 22.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

Epigenome analyses using BAC microarrays identify evolutionary conservation of tissue-specific methylation of SHANK3.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3119894

27 November 2018

Identifiers

DOI

10.1002/AJMG.A.33253

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20186804%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20186804%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

20186804

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20186804%20AND%20SRC:MED&resulttype=core&format=json