(Q42699186)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24193341%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24193341%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24193341%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

Karin E M Diderich

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24193341%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Lutgarde C P Govaerts

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24193341%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Marieke Joosten

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24193341%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Sam Riedijk

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24193341%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Robert Jan H Galjaard

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24193341%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Diane Van Opstal

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24193341%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

publication date

6 November 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24193341%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

29 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24193341%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24193341%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24193341%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

page(s)

856-858

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24193341%20AND%20SRC:MED&resulttype=core&format=json

Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis

29 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

Chromosomal microarray versus karyotyping for prenatal diagnosis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

Incidental copy-number variants identified by routine genome testing in a clinical population

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

A copy number variation morbidity map of developmental delay

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

Prenatal diagnosis: array comparative genomic hybridization in fetuses with abnormal sonographic findings

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

Prenatal diagnosis using array-CGH: a French experience.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

Prenatal diagnosis using combined quantitative fluorescent polymerase chain reaction and array comparative genomic hybridization analysis as a first-line test: results from over 1000 consecutive cases.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

Understanding variable expressivity in microdeletion syndromes.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060108

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

16 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.254

Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24193341

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24193341

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2013.254

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24193341%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

29 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24193341%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

PubMed publication ID

24193341

1 reference