Chromosomal microarray versus karyotyping for prenatal diagnosis (Q36546668)

14 August 2017

Chromosomal microarray versus karyotyping for prenatal diagnosis (English)

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14 August 2017

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2

Christa Lese Martin

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14 August 2017

10

William A Grobman

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14 August 2017

5

Christine M Eng

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14 August 2017

22

David H Ledbetter

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14 August 2017

Ronald J Wapner

1

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14 August 2017

Brynn Levy

3

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14 August 2017

Blake C Ballif

4

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14 August 2017

Julia M Zachary

6

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14 August 2017

Melissa Savage

7

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14 August 2017

Lawrence D Platt

8

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14 August 2017

Daniel Saltzman

9

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14 August 2017

Susan Klugman

11

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14 August 2017

Thomas Scholl

12

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14 August 2017

Joe Leigh Simpson

13

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14 August 2017

Kimberly McCall

14

1 reference

14 August 2017

Vimla S Aggarwal

15

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14 August 2017

Brian Bunke

16

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14 August 2017

Odelia Nahum

17

1 reference

14 August 2017

Ankita Patel

18

1 reference

14 August 2017

Allen N Lamb

19

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14 August 2017

Elizabeth A Thom

20

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14 August 2017

Arthur L Beaudet

21

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14 August 2017

Lisa G Shaffer

23

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14 August 2017

Laird Jackson

24

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14 August 2017

language of work or name

English

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publication date

1 December 2012

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The New England Journal of Medicine

14 August 2017

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14 August 2017

367

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23

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14 August 2017

2175-2184

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Karyotype versus microarray testing for genetic abnormalities after stillbirth

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

Non-invasive prenatal measurement of the fetal genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

Noninvasive whole-genome sequencing of a human fetus.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

Genomics, intellectual disability, and autism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

Genomics and perinatal care

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

A copy number variation morbidity map of developmental delay

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

Application of a target array comparative genomic hybridization to prenatal diagnosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

ACOG Practice Bulletin No. 77: Screening for Fetal Chromosomal Abnormalities

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

Identification of two inherited copy number variants in a male with autism supports two-hit and compound heterozygosity models of autism.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

Prevalence of developmental delays and participation in early intervention services for young children.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

Perceived risk of prenatal diagnostic procedure-related miscarriage and Down syndrome among pregnant women.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3549418

Preference assessment of prenatal diagnosis for Down syndrome: is 35 years a rational cutoff?

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23215555

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23215555

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

De novobalanced chromosome rearrangements in prenatal diagnosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23215555

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1056/NEJMOA1203382

1 reference

14 August 2017

1 reference

14 August 2017

1 reference