A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot. (Q41922582)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

title

A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Caroline L. Relton

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Helen Griffin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Shoumo Bhattacharya

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

John David Brook

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

Javier T Granados-Riveron

28 January 2020

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

A. Graham Stuart

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Heather J Cordell

20

1 reference

ORCID Public Data File 2021

Bernard Keavney

object named as

Bernard Keavney

21

1 reference

ORCID Public Data File 2021

Judith A Goodship

1

object named as

Judith A Goodship

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

11

Jamie Bentham

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

13

Catherine Cosgrove

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

3

Ana Topf

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

6

Thahira J Rahman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

7

Elise Glen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

2

Darroch Hall

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

9

Julian Palomino Doza

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

author name string

Chrysovalanto Mamasoula

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Frances A Bu'Lock

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

John O'Sullivan

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Jonathan Parsons

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

publication date

13 April 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

Circulation: Cardiovascular Genetics

28 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

page(s)

287-292

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation

28 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=4643453

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

Noonan syndrome: clinical aspects and molecular pathogenesis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

Common variation in ISL1 confers genetic susceptibility for human congenital heart disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

Shared and distinct genetic variants in type 1 diabetes and celiac disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

The MTHFR 677C->T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

Building the mammalian heart from two sources of myocardial cells

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

A rare variant of the leptin gene has large effects on blood pressure and carotid intima-medial thickness: a study of 1428 individuals in 248 families.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

NKX2.5 mutations in patients with tetralogy of fallot

5 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

5 June 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

Racial and temporal variations in the prevalence of heart defects

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

The North Cumbria Community Genetics Project

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

A family study of Fallot's tetralogy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

The impact of incomplete linkage disequilibrium and genetic model choice on the analysis and interpretation of genome-wide association studies

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

Pedigree disequilibrium tests for multilocus haplotypes.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643453

The arterial pole of the mouse heart forms from Fgf10-expressing cells in pharyngeal mesoderm

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22503907

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22503907

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1161/CIRCGENETICS.111.962035

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22503907%20AND%20SRC:MED&resulttype=core&format=json