The introduction of arrays in prenatal diagnosis: a special challenge. (Q53131950)

11 May 2018

title

The introduction of arrays in prenatal diagnosis: a special challenge. (English)

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11 May 2018

5

Joris R Vermeesch

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11 May 2018

David H. Ledbetter

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object named as

David H Ledbetter

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11 May 2018

author name string

Annalisa Vetro

1

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11 May 2018

Katelijne Bouman

2

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11 May 2018

Ros Hastings

3

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11 May 2018

Dominic J McMullan

4

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11 May 2018

Konstantin Miller

6

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11 May 2018

Birgit Sikkema-Raddatz

7

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11 May 2018

Orsetta Zuffardi

9

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Conny M A van Ravenswaaij-Arts

10

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11 May 2018

publication date

16 April 2012

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11 May 2018

published in

Human Mutation

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11 May 2018

volume

33

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11 May 2018

issue

6

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11 May 2018

page(s)

923-929

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11 May 2018

Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

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

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Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype.

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Diagnostic interpretation of array data using public databases and internet sources

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

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

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Cost utility of prenatal diagnosis and the risk-based threshold

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Detection of large-scale variation in the human genome

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The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers

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

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Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

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From karyotyping to array-CGH in prenatal diagnosis

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Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21.

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Application of a target array comparative genomic hybridization to prenatal diagnosis

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Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

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Strong association of de novo copy number mutations with autism

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Large-scale copy number polymorphism in the human genome

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Array technology in prenatal diagnosis.

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

21 January 2018

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Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent

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ACOG Committee Opinion No. 446: array comparative genomic hybridization in prenatal diagnosis

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inferred from DOI database lookup

7 January 2021

based on heuristic

Current controversies in prenatal diagnosis 3: For prenatal diagnosis, should we offer less or more than metaphase karyotyping?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22050

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22050

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22050

1 reference

11 May 2018

PubMed ID

22508381

1 reference

11 May 2018