(Q57828426)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21271651%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation (English)

1 reference

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21 January 2020

2

1 reference

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21 January 2020

Frank Kooy

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21271651%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

author name string

Liesbeth Rooms

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21271651%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Edwin Reyniers

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21271651%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Kurt van Mol

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21271651%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Ilse de Canck

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21271651%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Nathalie Van der Aa

6

1 reference

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21 January 2020

Rudi Rossau

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21271651%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

language of work or name

English

0 references

publication date

14 January 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21271651%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

21 January 2020

number of pages

6

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21271651%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

volume

155A

1 reference

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21 January 2020

issue

2

1 reference

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21 January 2020

page(s)

343-348

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21271651%20AND%20SRC:MED&resulttype=core&format=json

The detection of large deletions or duplications in genomic DNA.

21 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

21 January 2018

1 reference

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CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior.

21 January 2018

1 reference

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X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

Familial deletion within NLGN4 associated with autism and Tourette syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

Global variation in copy number in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

Structural variation of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

Rare chromosomal deletions and duplications increase risk of schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

Genomic copy number variation, human health, and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

Quantitative assessment of a novel flow-through porous microarray for the rapid analysis of gene expression profiles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

Strong association of de novo copy number mutations with sporadic schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

Copy number variation in human health, disease, and evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

MAPD: a probe design suite for multiplex ligation-dependent probe amplification assays

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33810

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.33810

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21271651%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference