Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. (Q37482343)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19047251%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

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

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17 January 2020

3

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James R Lupski

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Pawel Stankiewicz

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A Craig Chinault

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17 January 2020

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Carlos A Bacino

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17 January 2020

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Xin-Yan Lu

1

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17 January 2020

Mai T Phung

2

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17 January 2020

Kim Pham

4

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17 January 2020

Sarah E Neil

5

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17 January 2020

Ankita Patel

6

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17 January 2020

Trilochan Sahoo

7

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17 January 2020

Sung-Hae Lee Kang

10

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17 January 2020

Seema Lalani

11

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17 January 2020

Sau W Cheung

14

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17 January 2020

Arthur L Beaudet

15

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17 January 2020

language of work or name

English

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publication date

1 December 2008

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17 January 2020

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17 January 2020

volume

122

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17 January 2020

page(s)

1310-1318

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17 January 2020

issue

6

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

17 January 2020

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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2 September 2018

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2 September 2018

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2 September 2018

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2 September 2018

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2 September 2018

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Integration of DNA sample collection into a multi-site birth defects case-control study.

2 September 2018

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Effective coding in birth defects surveillance

2 September 2018

1 reference

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Development of diagnostic tools for the analysis of 5p deletions using interphase FISH.

2 September 2018

1 reference

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A cytogenetic survey of 14,069 newborn infants. IV. Further follow-up on the children with sex chromosome anomalies.

2 September 2018

1 reference

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

2 September 2018

1 reference

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Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays

3 December 2018

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12 December 2020

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12 December 2020

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12 December 2020

A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities

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12 December 2020

Cytogenetic analysis of children suspected of chromosomal abnormalities

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12 December 2020

Use of fluorescence in situ hybridization (FISH) in the diagnosis of DiGeorge sequence and related diseases

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12 December 2020

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

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12 December 2020

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

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12 December 2020

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays

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12 December 2020

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

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12 December 2020

Detection of low-level mosaicism by array CGH in routine diagnostic specimens

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12 December 2020

Structural variation in the human genome

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12 December 2020

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

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12 December 2020

Identifiers

DOI

10.1542/PEDS.2008-0297

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19047251%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19047251%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference