(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)

1 reference

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17 January 2020

3

1 reference

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17 January 2020

13

James R Lupski

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

9

Pawel Stankiewicz

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

12

A Craig Chinault

1 reference

17 January 2020

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

8

Carlos A Bacino

1 reference

17 January 2020

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

Xin-Yan Lu

1

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

Mai T Phung

2

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

Kim Pham

4

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

Sarah E Neil

5

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

Ankita Patel

6

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

Trilochan Sahoo

7

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

Sung-Hae Lee Kang

10

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

Seema Lalani

11

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

Sau W Cheung

14

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

Arthur L Beaudet

15

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

language of work or name

English

0 references

publication date

1 December 2008

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

volume

122

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

issue

6

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

page(s)

1310-1318

1 reference

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

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

17 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Strong association of de novo copy number mutations with autism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

3p-- syndrome defines a hearing loss locus in 3p25.3

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Medical applications of array CGH and the transformation of clinical cytogenetics

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Infant mortality statistics from the 2003 period linked birth/infant death data set.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Comparative genomic hybridization and prenatal diagnosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Identification of disease genes by whole genome CGH arrays

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Prenatal detection of unbalanced chromosomal rearrangements by array CGH.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Diagnostic genome profiling in mental retardation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Detection of large-scale variation in the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Large-scale copy number polymorphism in the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

The National Birth Defects Prevention Study

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Genome architecture, rearrangements and genomic disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Chromosomal abnormalities in the newborn period

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Cytogenetic studies in perinatal death

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Cytogenetic studies in a population suspected to have chromosomal abnormalities.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Variation of CNV distribution in five different ethnic populations

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Genome structural variation and sporadic disease traits

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Array-based comparative genome hybridization in clinical genetics.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Incidence of chromosome abnormalities in the Sultanate of Oman.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Guidelines for case classification for the National Birth Defects Prevention Study

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

Effective coding in birth defects surveillance

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2795566

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

3 December 2018

1 reference

12 December 2020

OligoArray: genome-scale oligonucleotide design for microarrays

1 reference

12 December 2020

Trends in fetal and infant deaths caused by congenital anomalies

1 reference

12 December 2020

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

1 reference

12 December 2020

Cytogenetic analysis of children suspected of chromosomal abnormalities

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Structural variation in the human genome

1 reference

12 December 2020

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

1 reference

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

PubMed publication ID

19047251

1 reference