(Q34610494)

3 August 2017

title

Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial (English)

1 reference

3 August 2017

Ronald J Wapner

1

1 reference

3 August 2017

Deborah A Driscoll

series ordinal

2

1 reference

3 August 2017

Joe Leigh Simpson

series ordinal

3

1 reference

3 August 2017

language of work or name

1 reference

1 April 2012

1 reference

3 August 2017

1 reference

3 August 2017

volume

32

1 reference

3 August 2017

issue

4

1 reference

3 August 2017

page(s)

396-400

1 reference

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251739

A copy number variation morbidity map of developmental delay

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251739

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251739

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251739

Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251739

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251739

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251739

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251739

High-resolution array genomic hybridization in prenatal diagnosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251739

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251739

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251739

The human genome browser at UCSC

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251739

The 22q11.2 deletion syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251739

Array comparative genomic hybridization in global developmental delay.

7 July 2018

1 reference

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders

21 January 2018

1 reference

Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray

21 January 2018

1 reference

Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting.

21 January 2018

1 reference

High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings.

21 January 2018

1 reference

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

21 January 2018

1 reference

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

21 January 2018

1 reference

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

21 January 2018

1 reference

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

21 January 2018

1 reference

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

21 January 2018

1 reference

Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time

21 January 2018

1 reference

Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22467170

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22467170

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/PD.3863

1 reference

release_go6nfxqmqjbizg4rmbjlaov3ke

3 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/go6nfxqmqjbizg4rmbjlaov3ke

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

4251739

1 reference

3 August 2017

1 reference