Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome (Q24535749)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11431708%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

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

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9 November 2019

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9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11431708%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11431708%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11431708%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11431708%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Felisari G

1 reference

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9 November 2019

Selicorni A

series ordinal

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9 November 2019

language of work or name

English

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publication date

18 June 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11431708%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

9 November 2019

published in

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9 November 2019

volume

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9 November 2019

issue

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9 November 2019

page(s)

261-268

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Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development

9 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=1235301

Identification of a chromosome 3p14.3-21.1 gene, APPL, encoding an adaptor molecule that interacts with the oncoprotein-serine/threonine kinase AKT2

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Signal-processing machines at the postsynaptic density

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

The DNA sequence of human chromosome 22

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Enlightening the postsynaptic density

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

X-linked non-specific mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Cryptic subtelomeric translocations in the 22q13 deletion syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Two 22q telomere deletions serendipitously detected by FISH

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235301

Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11431708

12 December 2020

inferred from PubMed ID database lookup

Analysis of lissencephaly-causingLIS1mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11431708

12 December 2020

inferred from PubMed ID database lookup

High resolution R- and G-banding on the same preparation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11431708

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/321293

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11431708%20AND%20SRC:MED&resulttype=core&format=json

release_vxbxb7mg4nfqhl2zvcgnuahifi

9 November 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/vxbxb7mg4nfqhl2zvcgnuahifi

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11431708%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

PubMed publication ID

11431708

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11431708%20AND%20SRC:MED&resulttype=core&format=json