(Q34328409)

English

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

author name string

Martin Poot

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Marc J Eleveld

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Ruben van 't Slot

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Hans Kristian Ploos van Amstel

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Ron Hochstenbach

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

publication date

1 January 2010

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

18

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

39-46

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.120

0 references

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Cytogenetic Technology — Genotype and Phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Novel microdeletion syndromes detected by chromosome microarrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Side effects of genome structural changes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Genomic rearrangements and sporadic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Copy-number variation and association studies of human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Resolving the resolution of array CGH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

A comprehensive analysis of common copy-number variations in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Global variation in copy number in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Copy number variation: new insights in genome diversity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Gene prioritization through genomic data fusion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

X-linked mental retardation: many genes for a complex disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Structural variation in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Segmental duplications and copy-number variation in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Fine-scale structural variation of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Detection of large-scale variation in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Large-scale copy number polymorphism in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Recent segmental duplications in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Genome architecture, rearrangements and genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Lessons from the human genome: transitions between euchromatin and heterochromatin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

STRING: a web-server to retrieve and display the repeatedly occurring neighbourhood of a gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987154

6 July 2018

Array comparative genomic hybridization for diagnosis of developmental delay: an exploratory cost-consequences analysis.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.120

21 January 2018

A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.120

21 January 2018

A worldwide survey of haplotype variation and linkage disequilibrium in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.120

21 January 2018

Common deletions and SNPs are in linkage disequilibrium in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.120

21 January 2018

Common deletion polymorphisms in the human genome.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.120

21 January 2018

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.120

21 January 2018

Integration of cytogenetic landmarks into the draft sequence of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.120

21 January 2018

Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.120

21 January 2018

Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.120

21 January 2018

Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33).

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.120

21 January 2018

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.120

21 January 2018

A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation.

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https://api.crossref.org/works/10.1038%2FEJHG.2009.120

21 January 2018

GATHER: a systems approach to interpreting genomic signatures.

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21 January 2018

Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter

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12 December 2020

based on heuristic

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Striking facial dysmorphisms and restricted thymic development in a fetus with a 6-megabase deletion of chromosome 14q

1 reference

https://pubmed.ncbi.nlm.nih.gov/19623214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A high-resolution survey of deletion polymorphism in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19623214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Widening the spectrum of human genetic variation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19623214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2009.120

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

ResearchGate publication ID

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