(Q24678653)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9311751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9311751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

6

1 reference

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6 November 2019

author name string

Osborne LR

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9311751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Soder S

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9311751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Shi XM

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9311751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Pober B

4

1 reference

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6 November 2019

Costa T

5

1 reference

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6 November 2019

Tsui LC

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9311751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

language of work or name

English

0 references

publication date

1 August 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9311751%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

6 November 2019

published in

1 reference

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6 November 2019

volume

61

1 reference

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6 November 2019

page(s)

449-452

1 reference

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6 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9311751%20AND%20SRC:MED&resulttype=core&format=json

A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23

6 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715888

Novel isoform of syntaxin 1 is expressed in mammalian cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715888

Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715888

Isoform-specific interaction of the alpha1A subunits of brain Ca2+ channels with the presynaptic proteins syntaxin and SNAP-25

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715888

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715888

The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715888

Cloning and sequence analysis of a cDNA encoding human syntaxin 1A, a polypeptide essential for exocytosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715888

Syntaxin: a synaptic protein implicated in docking of synaptic vesicles at presynaptic active zones

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715888

Genetic and electrophysiological studies of Drosophila syntaxin-1A demonstrate its role in nonneuronal secretion and neurotransmission

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715888

Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715888

Hypothesis for development of a behavioral phenotype in Williams syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715888

Spontaneous locomotor hyperactivity in a mouse mutant with a deletion including the Snap gene on chromosome 2

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715888

LIM-kinase deleted in Williams syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715888

A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome.

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715888

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715888

Mouse model of hyperkinesis implicates SNAP-25 in behavioral regulation

28 November 2018

1 reference

12 December 2020

Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome

1 reference

12 December 2020

The Williams syndrome: evidence for possible autosomal dominant inheritance

1 reference

12 December 2020

Williams syndrome: autosomal dominant inheritance

1 reference

12 December 2020

Calcium-dependent interaction of N-type calcium channels with the synaptic core complex

1 reference

12 December 2020

Identifiers

DOI

10.1086/514850

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9311751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9311751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference