(Q34325401)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18781187%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

title

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples (English)

1 reference

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14 January 2020

3

1 reference

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14 January 2020

author name string

Diane Van Opstal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18781187%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Marjan Boter

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18781187%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Cardi van den Berg

4

1 reference

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14 January 2020

Hennie T Brüggenwirth

5

1 reference

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14 January 2020

Hajo I J Wildschut

6

1 reference

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14 January 2020

Annelies de Klein

7

1 reference

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14 January 2020

Robert-Jan H Galjaard

8

1 reference

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14 January 2020

publication date

10 September 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18781187%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

14 January 2020

published in

1 reference

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14 January 2020

volume

17

1 reference

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14 January 2020

issue

1

1 reference

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14 January 2020

page(s)

112-121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18781187%20AND%20SRC:MED&resulttype=core&format=json

Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis

14 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985961

Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985961

Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985961

The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985961

Maternal cell contamination of prenatal samples assessed by QF-PCR genotyping.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985961

Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985961

Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985961

Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985961

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985961

Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985961

Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.161

Strategies for the rapid prenatal diagnosis of chromosome aneuploidy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.161

Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.161

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.161

Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.161

Rapid aneuploidy testing, traditional karyotyping, or both?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.161

Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985961

Prenatal cytogenetic diagnosis: gone FISHing, BAC soon!

28 October 2018

1 reference

12 December 2020

Follow-up investigations in uncultured amniotic fluid cells after uncertain cytogenetic results

1 reference

12 December 2020

Contribution of ultrasonographic examination to the prenatal detection of chromosomal abnormalities in 19 centres across Europe

1 reference

12 December 2020

Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH)

1 reference

12 December 2020

Development and targeted application of a rapid QF-PCR test for sex chromosome imbalance

1 reference

12 December 2020

Maternal cell contamination of amniotic fluid cell cultures: Results of a U.S. nationwide survey

1 reference

12 December 2020

Fetal aneuploidy diagnosed by fluorescence in-situ hybridisation within 24 hours after amniocentesis

1 reference

12 December 2020

A chromosome 21-specific cosmid cocktail for the detection of chromosome 21 aberrations in interphase nuclei

1 reference

12 December 2020

Improved method for determining fetal hemoglobin (HbF) by alkali denaturation

1 reference

12 December 2020

Maternal cell contamination in uncultured amniotic fluid

1 reference

12 December 2020

Factors associated with maternal cell contamination in amniocentesis samples as evaluated by fluorescent in situ hybridization

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2008.161

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18781187%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18781187%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

PubMed publication ID

18781187

1 reference