(Q37899884)

25 August 2017

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title

Copy-number changes in prenatal diagnosis (English)

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25 August 2017

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Melissa Strassberg

1

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25 August 2017

Gary Fruhman

series ordinal

2

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25 August 2017

Ignatia B Van den Veyver

series ordinal

3

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25 August 2017

publication date

1 July 2011

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Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

25 August 2017

published in

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25 August 2017

volume

11

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25 August 2017

issue

6

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25 August 2017

page(s)

579-592

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Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

25 August 2017

cites work

1 reference

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

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Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

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Randomised controlled trial of genetic amniocentesis in 4606 low-risk women

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Pregnancy loss rates after midtrimester amniocentesis

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Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors

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Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization

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Challenges and standards in integrating surveys of structural variation

21 January 2018

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Methods and strategies for analyzing copy number variation using DNA microarrays

21 January 2018

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Structural variation in the human genome and its role in disease

21 January 2018

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Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

21 January 2018

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Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

21 January 2018

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Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

21 January 2018

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

21 January 2018

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Prenatal diagnosis using array CGH.

21 January 2018

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Diagnostic genome profiling: unbiased whole genome or targeted analysis?

21 January 2018

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The impact of human copy number variation on a new era of genetic testing.

21 January 2018

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Detection of large-scale variation in the human genome

21 January 2018

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Large-scale copy number polymorphism in the human genome

21 January 2018

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Global variation in copy number in the human genome

21 January 2018

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Origins and functional impact of copy number variation in the human genome

21 January 2018

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Structural variation in the human genome

21 January 2018

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Genomic rearrangements and sporadic disease

21 January 2018

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Mechanisms and consequences of somatic mosaicism in humans

21 January 2018

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Accuracy of cytogenetic findings on chorionic villus sampling (CVS)--diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992

21 January 2018

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Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages

21 January 2018

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Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient

21 January 2018

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Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome

21 January 2018

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

21 January 2018

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Resolution of trisomic mosaicism in prenatal diagnosis: estimated performance of a 50K SNP microarray

21 January 2018

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Small supernumerary marker chromosomes (sSMC) in humans

21 January 2018

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Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study

21 January 2018

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Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.

21 January 2018

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Identification of origin of unknown derivative chromosomes by array-based comparative genomic hybridization using pre- and postnatal clinical samples.

21 January 2018

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High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings.

21 January 2018

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Identification of incestuous parental relationships by SNP-based DNA microarrays.

21 January 2018

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The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future

21 January 2018

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22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

21 January 2018

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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.

21 January 2018

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Genome structural variation and sporadic disease traits

21 January 2018

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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

21 January 2018

1 reference

A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features

21 January 2018

1 reference

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

21 January 2018

1 reference

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

21 January 2018

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Severe expressive-language delay related to duplication of the Williams-Beuren locus

21 January 2018

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 January 2018

1 reference

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

21 January 2018

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Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

21 January 2018

1 reference

Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization

21 January 2018

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Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

21 January 2018

1 reference

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

21 January 2018

1 reference

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

21 January 2018

1 reference

Monosomy 1p36 deletion syndrome.

21 January 2018

1 reference

Major changes in our DNA lead to major changes in our thinking

21 January 2018

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Mapping autism risk loci using genetic linkage and chromosomal rearrangements

21 January 2018

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

21 January 2018

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Prenatal detection of unbalanced chromosomal rearrangements by array CGH.

21 January 2018

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

21 January 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

21 January 2018

1 reference

Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis

21 January 2018

1 reference

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

21 January 2018

1 reference

Array comparative genomic hybridization profiling of first-trimester spontaneous abortions that fail to grow in vitro.

21 January 2018

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Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples.

21 January 2018

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Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls

21 January 2018

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Genomic changes detected by array CGH in human embryos with developmental defects

21 January 2018

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Microarray analysis of cell-free fetal DNA in amniotic fluid: a prenatal molecular karyotype.

21 January 2018

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Array-CGH analysis of cell-free fetal DNA in 10 mL of amniotic fluid supernatant.

21 January 2018

1 reference

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

21 January 2018

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MLPA for confirmation of array CGH results and determination of inheritance

21 January 2018

1 reference

Application of a target array comparative genomic hybridization to prenatal diagnosis

21 January 2018

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Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives

21 January 2018

1 reference

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

21 January 2018

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Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

21 January 2018

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

21 January 2018

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Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss

21 January 2018

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21 January 2018

Identifiers

DOI

10.1586/ERM.11.43

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25 August 2017

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