(Q24300678)

English

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

scientific article

In more languages

Statements

scholarly article

0 references

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

0 references

congenital disorder

0 references

Gap junction protein alpha 5

1 reference

GOA release 2020-03-11

atrial septum development

1 reference

GOA release 2020-03-11

congenital heart disease

1 reference

based on heuristic

inferred from title

20

0 references

21

0 references

7

object named as

Darroch Hall

0 references

23

object named as

David S Winlaw

0 references

object named as

Ian J Wilson

3

0 references

Shoumo Bhattacharya

object named as

Shoumo Bhattacharya

10

0 references

Mauro Santibanez-Korev

25

object named as

Mauro Santibanez-Koref

0 references

Bernard Keavney

28

object named as

Bernard D Keavney

0 references

Judith A Goodship

27

object named as

Judith A Goodship

0 references

Heather Cordell

26

object named as

Heather J Cordell

0 references

Javier T Granados-Riveron

13

object named as

Javier Granados-Riveron

0 references

9

object named as

Jamie Bentham

0 references

Catherine Cosgrove

11

object named as

Catherine Cosgrove

0 references

Jeroen Breckpot

18

object named as

Jeroen Breckpot

0 references

Kerry Setchfield

14

object named as

Kerry Setchfield

0 references

Chris Thornborough

16

object named as

Chris Thornborough

0 references

Koenraad Devriendt

17

object named as

Koenraad Devriendt

0 references

24

object named as

Matthew Hurles

0 references

1

object named as

Rachel Soemedi

0 references

2

object named as

Ana Topf

0 references

5

object named as

Thahira Rahman

0 references

6

object named as

Elise Glen

0 references

22

object named as

Gillian M Blue

0 references

author name string

Rebecca Darlay

4

0 references

Ni Huang

8

0 references

J David Brook

12

0 references

Frances Bu'lock

15

0 references

Michael Hofbeck

19

0 references

language of work or name

0 references

publication date

1 April 2012

0 references

Human Molecular Genetics

0 references

21

0 references

7

0 references

1513-20

0 references

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

19 March 2017

Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

19 March 2017

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

19 March 2017

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

19 March 2017

Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

19 March 2017

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

19 March 2017

The human genome browser at UCSC

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

19 March 2017

BLAT—The BLAST-Like Alignment Tool

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

19 March 2017

dbSNP: the NCBI database of genetic variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

19 March 2017

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

19 March 2017

Targeted deletion of Hand2 in cardiac neural crest-derived cells influences cardiac gene expression and outflow tract development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

19 March 2017

Regulation of human heart contractility by essential myosin light chain isoforms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

19 March 2017

Abnormal cardiac conduction and morphogenesis in connexin40 and connexin43 double-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

19 March 2017

Impaired conduction of vasodilation along arterioles in connexin40-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

19 March 2017

Integrated detection and population-genetic analysis of SNPs and copy number variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

7 April 2017

The UCSC Table Browser data retrieval tool

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

7 April 2017

The incidence of congenital heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

7 April 2017

Common variants for atrial fibrillation: results from genome-wide association studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

27 September 2017

Genome-wide association studies of atrial fibrillation: past, present, and future

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

27 September 2017

A common connexin-40 gene promoter variant affects connexin-40 expression in human atria and is associated with atrial fibrillation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

27 September 2017

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

27 September 2017

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

27 September 2017

Duplication hotspots, rare genomic disorders, and common disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

27 September 2017

Population analysis of large copy number variants and hotspots of human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

27 September 2017

Human MLPA Probe Design (H-MAPD): a probe design tool for both electrophoresis-based and bead-coupled human multiplex ligation-dependent probe amplification assays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

27 September 2017

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

27 September 2017

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

27 September 2017

Segmental duplications: organization and impact within the current human genome project assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

27 September 2017

Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

27 September 2017

Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

30 May 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR589

21 January 2018

Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR589

21 January 2018

Population-based study of congenital heart defects in Down syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

29 November 2018

Heart and neural tube defects in transgenic mice overexpressing the Cx43 gap junction gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3298277

29 November 2018

High Incidence of Cardiac Malformations in Connexin40-Deficient Mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR589

21 January 2018

Molecular analysis of connexin 40 in the familial form of atrial fibrillation

1 reference

https://pubmed.ncbi.nlm.nih.gov/22199024

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of expression of connexin in right atrial myocardium in patients with chronic atrial fibrillation versus those in sinus rhythm

1 reference

https://pubmed.ncbi.nlm.nih.gov/22199024

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrence of Congenital Heart Defects in Families

1 reference

https://pubmed.ncbi.nlm.nih.gov/22199024

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDR589

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24300678&oldid=1858780271"