(Q58029039)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21400624%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

title

Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype (English)

1 reference

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25 January 2020

2

1 reference

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25 January 2020

Tze Kin Lau

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21400624%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Olav B. Petersen

6

1 reference

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25 January 2020

author name string

T Y Leung

1

1 reference

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25 January 2020

W Chong

4

1 reference

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25 January 2020

J A Hyett

5

1 reference

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25 January 2020

K W Choy

7

1 reference

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25 January 2020

publication date

10 August 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21400624%20AND%20SRC:MED&resulttype=core&format=json

Ultrasound in Obstetrics and Gynecology

25 January 2020

published in

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25 January 2020

volume

38

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25 January 2020

issue

3

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25 January 2020

page(s)

314-319

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UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation

25 January 2020

cites work

1 reference

First trimester combined screening for Trisomy 21 in Hong Kong: outcome of the first 10,000 cases.

21 January 2018

1 reference

Increased nuchal translucency thickness and normal karyotype: time for parental reassurance.

21 January 2018

1 reference

Increased nuchal translucency with normal karyotype

21 January 2018

1 reference

Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: a prospective study

21 January 2018

1 reference

Increased nuchal translucency in euploid fetuses--what should we be telling the parents?

21 January 2018

1 reference

Second-Trimester Detection of Mowat-Wilson Syndrome Using Comparative Genomic Hybridization Microarray Testing

21 January 2018

1 reference

Prenatal findings and delineation ofde novoconcurrent partial trisomy 7q(7q31.2 → qter) and partial monosomy 6q(6q26 → qter) by high-resolution array CGH

21 January 2018

1 reference

De novo 16p13.11 microdeletion identified by high-resolution array CGH in a fetus with increased nuchal translucency.

21 January 2018

1 reference

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

21 January 2018

1 reference

Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies

21 January 2018

1 reference

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

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

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

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

Detection of large-scale variation in the human genome

21 January 2018

1 reference

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

21 January 2018

1 reference

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

21 January 2018

1 reference

Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities

21 January 2018

1 reference

Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis

21 January 2018

1 reference

Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation

21 January 2018

1 reference

Evaluation of prenatally diagnosed structural congenital anomalies

21 January 2018

1 reference

Increased nuchal translucency in fetuses with a normal karyotype

21 January 2018

1 reference

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

21 January 2018

1 reference

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

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

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Increased nuchal translucency with normal karyotype: a follow-up study of 100 cases supplemented with CGH and MLPA analyses.

21 January 2018

1 reference

Prenatal study of common submicroscopic “genomic disorders” using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester

21 January 2018

1 reference

Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances.

21 January 2018

1 reference

Accurate distinction of pathogenic from benign CNVs in mental retardation

21 January 2018

1 reference

Classification of pathogenic or benign status of CNVs detected by microarray analysis

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/UOG.8988

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21400624%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference