(Q33746989)

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Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort

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Europe PubMed Central

PubMed publication ID

29 July 2017

Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort (English)

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Europe PubMed Central

PubMed publication ID

29 July 2017

congenital disorder

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author name string

Wilson Wai Sing Chong

1

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24926319%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Ivan Fai Man Lo

2

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24926319%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Stephen Tak Sum Lam

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24926319%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Ho Ming Luk

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24926319%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Tak Yeung Leung

6

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24926319%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

publication date

23 May 2014

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Europe PubMed Central

PubMed publication ID

29 July 2017

Molecular Cytogenetics

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24926319%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

7

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24926319%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

34

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24926319%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

Technology-driven and evidence-based genomic analysis for integrated pediatric and prenatal genetics evaluation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

Copy-number disorders are a common cause of congenital kidney malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

12-year-old boy with a 4q35.2 microdeletion and involvement of MTNR1A, FAT1, and F11 genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

Towards an evidence-based process for the clinical interpretation of copy number variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

A copy number variation morbidity map of developmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

The phenotype of recurrent 10q22q23 deletions and duplications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

A double hit implicates DIAPH3 as an autism risk gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

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=4055236

21 June 2018

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

21 June 2018

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-34

21 January 2018

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-34

21 January 2018

American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-34

21 January 2018

Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-34

21 January 2018

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-34

21 January 2018

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-34

21 January 2018

High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-34

21 January 2018

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-34

21 January 2018

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-34

21 January 2018

An oligonucleotide based array-CGH system for detection of genome wide copy number changes including subtelomeric regions for genetic evaluation of mental retardation.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-34

21 January 2018

4q34.1–q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-34

21 January 2018

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

30 October 2018

Array CGH in molecular diagnosis of mental retardation - A study of 150 Finnish patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

30 October 2018

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

30 October 2018

Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype

1 reference

https://api.crossref.org/works/10.1186%2F1755-8166-7-34

21 January 2018

Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4055236

30 October 2018

Identifiers

10.1186/1755-8166-7-34

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24926319%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24926319%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24926319%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

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