(Q36977128)

17 August 2017

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome (English)

1 reference

17 August 2017

0 references

15

1 reference

17 August 2017

21

Stephan Eliez

1 reference

17 August 2017

Deanne Taylor

3

0 references

Bernice E. Morrow

Bernice E Morrow

30

0 references

Marcella Devoto

Marcella Devoto

25

0 references

Elaine Zackai

26

Elaine Zackai

1 reference

17 August 2017

Donna M McDonald-McGinn

7

Donna M McDonald-McGinn

1 reference

17 August 2017

28

Elizabeth Goldmuntz

1 reference

17 August 2017

20

Carrie E Bearden

1 reference

17 August 2017

24

Wendy R Kates

1 reference

17 August 2017

Elisabeth E Mlynarski

1

1 reference

17 August 2017

Michael Xie

2

1 reference

17 August 2017

Molly B Sheridan

4

1 reference

17 August 2017

Tingwei Guo

5

1 reference

17 August 2017

Silvia E Racedo

6

1 reference

17 August 2017

Eva W C Chow

8

1 reference

17 August 2017

Jacob Vorstman

9

1 reference

17 August 2017

Ann Swillen

10

1 reference

17 August 2017

Koen Devriendt

11

1 reference

17 August 2017

Jeroen Breckpot

12

1 reference

17 August 2017

Maria Cristina Digilio

13

1 reference

17 August 2017

Bruno Marino

14

1 reference

17 August 2017

Nicole Philip

16

1 reference

17 August 2017

Tony J Simon

17

1 reference

17 August 2017

Amy E Roberts

18

1 reference

17 August 2017

Małgorzata Piotrowicz

19

1 reference

17 August 2017

Doron Gothelf

22

1 reference

17 August 2017

Karlene Coleman

23

1 reference

17 August 2017

Damian Heine-Suñer

27

1 reference

17 August 2017

Anne S Bassett

29

1 reference

17 August 2017

Beverly S Emanuel

31

1 reference

17 August 2017

International Chromosome 22q11.2 Consortium

32

1 reference

17 August 2017

language of work or name

1 reference

7 January 2016

1 reference

17 August 2017

1 reference

17 August 2017

135

1 reference

17 August 2017

273-285

1 reference

17 August 2017

3

1 reference

describes a project that uses

17 August 2017

Cytoscape

1 reference

9 June 2022

https://europepmc.org/search?query=(METHODS:'Cytoscape')

based on heuristic

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1007/s00439-015-1623-9

0 references

cites work

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

A copy number variation map of the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

ReactomeFIViz: a Cytoscape app for pathway and network-based data analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

The role of the protein tyrosine phosphatase SHP2 in cardiac development and disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Refining analyses of copy number variation identifies specific genes associated with developmental delay

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Rare de novo copy number variants in patients with congenital pulmonary atresia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

De novo mutations in histone-modifying genes in congenital heart disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Global increases in both common and rare copy number load associated with autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Contribution of rare copy number variants to isolated human malformations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Signaling mechanisms controlling cell fate and embryonic patterning

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Slits affect the timely migration of neural crest cells via Robo receptor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Human gene copy number spectra analysis in congenital heart malformations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Rare structural variation of synapse and neurotransmission genes in autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

ErbB signaling in cardiac development and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Dissecting spatio-temporal protein networks driving human heart development and related disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Tetralogy of fallot as a model to study cardiac progenitor cell migration and differentiation during heart development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Wnt/beta-catenin signaling and cardiogenesis: timing does matter

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Building the mammalian heart from two sources of myocardial cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Defining the clinical spectrum of deletion 22q11.2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Cytoscape: a software environment for integrated models of biomolecular interaction networks

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Developmental genetics of the heart

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4896312

Burden of copy number variation in common variable immunodeficiency

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26742502

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Long form of latent TGF- binding protein 1 (Ltbp1L) is essential for cardiac outflow tract septation and remodeling

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26742502

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00439-015-1623-9

1 reference

17 August 2017

1 reference

17 August 2017

1 reference