(Q37998942)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22467166%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

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

1 reference

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27 January 2020

0 references

1

1 reference

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27 January 2020

Chad Shaw

7

1 reference

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27 January 2020

8

James R Lupski

1 reference

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27 January 2020

3

Patricia Hixson

1 reference

27 January 2020

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Carlos A Bacino

6

object named as

Carlos A Bacino

1 reference

27 January 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22467166%20AND%20SRC:MED&resulttype=core&format=json

author name string

Amber N Pursley

2

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27 January 2020

Weimin Bi

4

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27 January 2020

Patricia Ward

5

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27 January 2020

Arthur Beaudet

9

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27 January 2020

Ankita Patel

10

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27 January 2020

Sau W Cheung

11

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27 January 2020

Ignatia Van den Veyver

12

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27 January 2020

publication date

1 April 2012

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27 January 2020

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27 January 2020

volume

32

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27 January 2020

issue

4

1 reference

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27 January 2020

page(s)

351-361

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DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation

27 January 2020

cites work

1 reference

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

21 January 2018

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Medical applications of array CGH and the transformation of clinical cytogenetics

21 January 2018

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The array CGH and its clinical applications

21 January 2018

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Novel microdeletion syndromes detected by chromosome microarrays

21 January 2018

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Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

21 January 2018

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

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

21 January 2018

1 reference

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

21 January 2018

1 reference

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

21 January 2018

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Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

21 January 2018

1 reference

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

21 January 2018

1 reference

Prenatal diagnosis by array-CGH.

21 January 2018

1 reference

Prenatal detection of unbalanced chromosomal rearrangements by array CGH.

21 January 2018

1 reference

Copy-number changes in prenatal diagnosis

21 January 2018

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Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis

21 January 2018

1 reference

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

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

Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting.

21 January 2018

1 reference

Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations

21 January 2018

1 reference

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

Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization.

21 January 2018

1 reference

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

21 January 2018

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Guidelines for molecular karyotyping in constitutional genetic diagnosis

21 January 2018

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Copy number and SNP arrays in clinical diagnostics

21 January 2018

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Genomic disorders ten years on.

21 January 2018

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

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

1 reference

Mapping copy number variation by population-scale genome sequencing

21 January 2018

1 reference

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

21 January 2018

1 reference

Detection of clinically relevant exonic copy-number changes by array CGH.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

1 reference

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

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

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

21 January 2018

1 reference

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

21 January 2018

1 reference

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

21 January 2018

1 reference

Pseudomosaicism, true mosaicism, and maternal cell contamination in amniotic fluid processed with in situ culture and robotic harvesting

21 January 2018

1 reference

European collaborative research on mosaicism in CVS (EUCROMIC)--fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy

21 January 2018

1 reference

Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome

21 January 2018

1 reference

Penetrance for copy number variants associated with schizophrenia.

21 January 2018

1 reference

A copy number variation morbidity map of developmental delay

21 January 2018

1 reference

De novo rates and selection of large copy number variation

21 January 2018

1 reference

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

21 January 2018

1 reference

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

21 January 2018

1 reference

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

21 January 2018

1 reference