(Q46215286)

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A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors.

scientific article published on 31 October 2013

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24177055%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors (English)

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29 February 2020

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29 February 2020

Kathelijn Keymolen

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29 February 2020

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29 February 2020

Joris R Vermeesch

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Joris Robert Vermeesch

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29 February 2020

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Bjorn Menten

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29 February 2020

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Thomy de Ravel

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29 February 2020

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Elke Sleurs

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29 February 2020

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Paul Daniel Brady

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29 February 2020

Barbara Delle Chiaie

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29 February 2020

Gabrielle Christenhusz

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29 February 2020

Kris Van Den Bogaert

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29 February 2020

Sandra Janssens

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29 February 2020

Paul Defoort

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29 February 2020

Ellen Roets

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29 February 2020

Luc De Catte

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29 February 2020

Hilde Van Esch

15

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29 February 2020

Jean Pierre Fryns

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29 February 2020

Koenraad Devriendt

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29 February 2020

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31 October 2013

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29 February 2020

Genetics in Medicine

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29 February 2020

16

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29 February 2020

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29 February 2020

469-476

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29 February 2020

Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

A copy number variation morbidity map of developmental delay

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Estimates of penetrance for recurrent pathogenic copy-number variations

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Distinct prenatal ultrasonographic cranial and cerebral findings in terminal deletion of the short arm of chromosome 1.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

The output of Hedgehog signaling is controlled by the dynamic association between Suppressor of Fused and the Gli proteins

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Suppressor of fused controls mid-hindbrain patterning and cerebellar morphogenesis via GLI3 repressor.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

The mammalian class 3 PI3K (PIK3C3) is required for early embryogenesis and cell proliferation

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Chromosomal microarray versus karyotyping for prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Personalized disclosure by information-on-demand: attending to patients' needs in the informed consent process

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Advances in prenatal screening: the ethical dimension.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

21 January 2018

Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal chromosomal microarray analysis: a survey of prenatal genetic counselors' experiences and attitudes

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.168

7 January 2021

based on heuristic

inferred from DOI database lookup

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