Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow (Q35591677)

9 August 2017

title

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow (English)

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9 August 2017

Malgorzata Srebniak

1

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author name string

Marjan Boter

2

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9 August 2017

Grétel Oudesluijs

3

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9 August 2017

Marieke Joosten

4

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9 August 2017

Lutgarde Govaerts

5

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9 August 2017

Diane Van Opstal

6

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9 August 2017

Robert-Jan H Galjaard

7

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9 August 2017

publication date

22 June 2011

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European Journal of Human Genetics

9 August 2017

published in

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9 August 2017

volume

19

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9 August 2017

issue

12

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9 August 2017

page(s)

1230-1237

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https://scigraph.springernature.com/pub.10.1038/ejhg.2011.119

9 August 2017

exact match

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cites work

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Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

27 July 2018

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

27 July 2018

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Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

27 July 2018

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

27 July 2018

1 reference

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27 July 2018

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Whole genome amplification and its impact on CGH array profiles.

27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations

27 July 2018

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Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region.

27 July 2018

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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

27 July 2018

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A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations.

26 September 2018

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Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

26 September 2018

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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

26 September 2018

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26 September 2018

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Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9

26 September 2018

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Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

26 September 2018

1 reference

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Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.

26 September 2018

1 reference

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

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21694736

12 December 2020

inferred from PubMed ID database lookup

[Termination of pregnancy after the 20-week ultrasonographic examination: haste and caution]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21694736

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21694736

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/EJHG.2011.119

1 reference

release_fy7icvb36nad3hurnoubugnjgy

9 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/fy7icvb36nad3hurnoubugnjgy

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3230359

1 reference

9 August 2017

1 reference