(Q24676539)

English

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

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scholarly article

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

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haploinsufficiency

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22q13 deletion syndrome

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based on heuristic

inferred from title

author name string

H L Wilson

1

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A C C Wong

2

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S R Shaw

3

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W-Y Tse

4

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G A Stapleton

5

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M C Phelan

6

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S Hu

7

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J Marshall

8

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H E McDermid

9

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language of work or name

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publication date

August 2003

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Journal of Medical Genetics

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40

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575-84

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8

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Genomic disorders on 22q11

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

7 April 2017

Genomic sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

7 April 2017

ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

7 April 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=1735560

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

7 April 2017

A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

9 May 2017

Interaction of G-protein-coupled receptors with synaptic scaffolding proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 September 2017

Subtelomeric rearrangements detected in patients with idiopathic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 September 2017

Ring chromosome 22 and autism: report and review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 September 2017

Prenatal diagnosis of mosaicism for a del(22)(q13).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 September 2017

Synapse structure: glutamate receptors connected by the shanks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 September 2017

Position effect of human telomeric repeats on replication timing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 September 2017

Two 22q telomere deletions serendipitously detected by FISH

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 September 2017

Maternal uniparental disomy 22 has no impact on the phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 September 2017

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 September 2017

The gene encoding the human preproacrosin (ACR) maps to the q13-qter region on chromosome 22.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 September 2017

Systematic cloning of human minisatellites from ordered array charomid libraries.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 September 2017

STS for minisatellite MS607 (D22S163).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 September 2017

Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 September 2017

Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 September 2017

A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

30 May 2018

Deletion mapping by FISH with BACs in patients with partial monosomy 22q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

30 May 2018

Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

30 May 2018

No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 November 2018

Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 November 2018

Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 November 2018

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 November 2018

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 November 2018

Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 November 2018

Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 November 2018

Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 November 2018

Acrosin and the acrosome in human spermatogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735560

28 November 2018

Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter

1 reference

https://pubmed.ncbi.nlm.nih.gov/12920066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter

1 reference

https://pubmed.ncbi.nlm.nih.gov/12920066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maladaptive behavior of mentally retarded individuals in residential facilities

1 reference

https://pubmed.ncbi.nlm.nih.gov/12920066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A fast method for high-quality genomic DNA extraction from whole human blood

1 reference

https://pubmed.ncbi.nlm.nih.gov/12920066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preferential loss of the paternal alleles in the 18q- syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12920066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

1 reference

https://pubmed.ncbi.nlm.nih.gov/12920066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MICROTECHNIQUE FOR CULTURING LEUKOCYTES FROM WHOLE BLOOD

1 reference

https://pubmed.ncbi.nlm.nih.gov/12920066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.40.8.575

1 reference

https://api.fatcat.wiki/v0/release/6szs6ysy75hitgpdmzhyzpx7li

30 July 2022

based on heuristic

mapped directly with Wikidata item

release_6szs6ysy75hitgpdmzhyzpx7li

1 reference

https://api.fatcat.wiki/v0/release/6szs6ysy75hitgpdmzhyzpx7li

30 July 2022

based on heuristic

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

https://api.fatcat.wiki/v0/release/6szs6ysy75hitgpdmzhyzpx7li

30 July 2022

based on heuristic

mapped directly with Wikidata item

1 reference

https://api.fatcat.wiki/v0/release/6szs6ysy75hitgpdmzhyzpx7li

30 July 2022

based on heuristic

mapped directly with Wikidata item

ResearchGate publication ID

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