The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. (Q34352054)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23783273%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome (English)

1 reference

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3 March 2020

0 references

Xavier Estivill i Pallejà

28

1 reference

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3 March 2020

Stilianos Antonarakis

30

1 reference

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3 March 2020

Periklis Makrythanasis

2

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3 March 2020

Armand Valsesia

3

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3 March 2020

Federico A Santoni

4

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3 March 2020

Raquel Rabionet

12

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3 March 2020

7

Christelle Borel

1 reference

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3 March 2020

author name string

M Reza Sailani

1

1 reference

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3 March 2020

Samuel Deutsch

5

1 reference

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3 March 2020

Konstantin Popadin

6

1 reference

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3 March 2020

Eugenia Migliavacca

8

1 reference

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3 March 2020

Andrew J Sharp

9

1 reference

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3 March 2020

Genevieve Duriaux Sail

10

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3 March 2020

Emilie Falconnet

11

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3 March 2020

Clara Serra-Juhé

13

1 reference

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3 March 2020

Stefano Vicari

14

1 reference

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3 March 2020

Daniela Laux

15

1 reference

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3 March 2020

Yann Grattau

16

1 reference

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3 March 2020

Guy Dembour

17

1 reference

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3 March 2020

Andre Megarbane

18

1 reference

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3 March 2020

Renaud Touraine

19

1 reference

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3 March 2020

Samantha Stora

20

1 reference

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3 March 2020

Sofia Kitsiou

21

1 reference

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3 March 2020

Helena Fryssira

22

1 reference

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3 March 2020

Chariklia Chatzisevastou-Loukidou

23

1 reference

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3 March 2020

Emmanouel Kanavakis

24

1 reference

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3 March 2020

Giuseppe Merla

25

1 reference

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3 March 2020

Damien Bonnet

26

1 reference

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3 March 2020

Luis A Pérez-Jurado

27

1 reference

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Jean M Delabar

29

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3 March 2020

publication date

19 June 2013

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3 March 2020

1 reference

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3 March 2020

volume

23

1 reference

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3 March 2020

issue

9

1 reference

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3 March 2020

page(s)

1410-1421

1 reference

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Passive and active DNA methylation and the interplay with genetic variation in gene regulation

3 March 2020

cites work

1 reference

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An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects

6 July 2018

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Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways.

6 July 2018

1 reference

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Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort

6 July 2018

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Patterns of cis regulatory variation in diverse human populations

6 July 2018

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Implications of copy number variation in people with chromosomal abnormalities: potential for greater variation in copy number state may contribute to variability of phenotype

6 July 2018

1 reference

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Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

1 reference

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Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome

6 July 2018

1 reference

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Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies

6 July 2018

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6 July 2018

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Endogenous Wnt/beta-catenin signaling is required for cardiac differentiation in human embryonic stem cells

6 July 2018

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Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse

6 July 2018

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A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions

6 July 2018

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6 July 2018

1 reference

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Origins and functional impact of copy number variation in the human genome

6 July 2018

1 reference

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Common regulatory variation impacts gene expression in a cell type-dependent manner

6 July 2018

1 reference

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The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

6 July 2018

1 reference

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Avoiding the high Bonferroni penalty in genome-wide association studies

6 July 2018

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An integrated workflow for charting the human interaction proteome: insights into the PP2A system

6 July 2018

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Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

6 July 2018

1 reference

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Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

6 July 2018

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WGAViewer: software for genomic annotation of whole genome association studies

6 July 2018

1 reference

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Sparse representation and Bayesian detection of genome copy number alterations from microarray data

6 July 2018

1 reference

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PLINK: a tool set for whole-genome association and population-based linkage analyses

6 July 2018

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Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

6 July 2018

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Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

6 July 2018

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6 July 2018

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6 July 2018

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Lateral positioning at the dorsal midline: Slit and Roundabout receptors guide Drosophila heart cell migration

6 July 2018

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Principal components analysis corrects for stratification in genome-wide association studies

6 July 2018

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Segmental duplications and copy-number variation in the human genome

6 July 2018

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Novel human BTB/POZ domain-containing zinc finger protein ZNF295 is directly associated with ZFP161

6 July 2018

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Chromosome 21 and down syndrome: from genomics to pathophysiology

6 July 2018

1 reference

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Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome

6 July 2018

1 reference

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An essential role of Bmp4 in the atrioventricular septation of the mouse heart

6 July 2018

1 reference

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GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759718

6 July 2018

1 reference

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Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects

6 July 2018

1 reference

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Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits

6 July 2018

1 reference

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Chromosome 21: a small land of fascinating disorders with unknown pathophysiology

6 July 2018

1 reference

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

6 July 2018

1 reference

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10 years of Genomics, chromosome 21, and Down syndrome

6 July 2018

1 reference

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Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759718

Cell adhesion: the molecular basis of tissue architecture and morphogenesis

6 July 2018

1 reference

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Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects.

6 July 2018

1 reference

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A multiple testing correction method for genetic association studies using correlated single nucleotide polymorphisms

27 October 2018

1 reference

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Postnatal lethality and cardiac anomalies in the Ts65Dn Down syndrome mouse model

27 October 2018

1 reference

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Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome.

27 October 2018

1 reference

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Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down's syndrome.

27 October 2018

1 reference

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Down syndrome congenital heart disease: a narrowed region and a candidate gene

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759718

Significance Levels in Genome-Wide Interaction Analysis (GWIA)

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759718

Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome)

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23783273

12 December 2020

inferred from PubMed ID database lookup

Characterization of the cardiac phenotype in neonatal Ts65Dn mice

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23783273

12 December 2020

inferred from PubMed ID database lookup

Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23783273

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1101/GR.147991.112

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23783273%20AND%20SRC:MED&resulttype=core&format=json

release_f4f7q46ccvcjnps4lksnxnrp2e

3 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/f4f7q46ccvcjnps4lksnxnrp2e

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23783273%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23783273%20AND%20SRC:MED&resulttype=core&format=json