(Q24298150)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

Zinc finger protein, FOG family member 2

13 February 2020

main subject

1 reference

GOA release 2020-03-11

NK2 homeobox 5

1 reference

ventricular septum morphogenesis

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

tetralogy of Fallot

1 reference

double outlet right ventricle

inferred from title

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Francesca Lepri

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Pasquale Vergara

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Bruno Dallapiccola

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

author name string

A Sarkozy

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

F Consoli

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

M L Dentici

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

A De Zorzi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

P Versacci

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

M C Digilio

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

B Marino

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Alessandro De Luca

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

language of work or name

English

0 references

publication date

2 August 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

volume

80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

page(s)

184-190

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype.

13 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Familial recurrence of congenital heart disease: an overview and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

NKX2.5 mutations in patients with tetralogy of fallot

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

GATA4 sequence variants in patients with congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Predicting deleterious amino acid substitutions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Towards a structural basis of human non-synonymous single nucleotide polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Two-sided confidence intervals for the single proportion: comparison of seven methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Probable Inference, the Law of Succession, and Statistical Inference

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Functional analysis of splicing mutations in exon 7 of NF1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

NKX2.5 mutations in patients with non-syndromic congenital heart disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Isl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

PQS: a protein quaternary structure file server

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

A syndrome of tricuspid atresia in mice with a targeted mutation of the gene encoding Fog-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

FOG-2, a cofactor for GATA transcription factors, is essential for heart morphogenesis and development of coronary vessels from epicardium

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Double outlet right ventricle: aetiologies and associations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

San Luis Valley Recombinant chromosome 8 and tetralogy of Fallot: A review of chromosome 8 anomalies and congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Fog2 is required for normal diaphragm and lung development in mice and humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

A functionally conserved N-terminal domain of the friend of GATA-2 (FOG-2) protein represses GATA4-dependent transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Familial transposition of the great arteries caused by multiple mutations in laterality genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

Molecular analysis ofPRKAG2,LAMP2, andNKX2-5genes in a cohort of 125 patients with accessory atrioventricular connection

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

NKX2.5mutations in patients with congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

7 January 2021

Cardiac anomalies in patients with congenital diaphragmatic hernia and their prognosis: a report from the Congenital Diaphragmatic Hernia Study Group

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

7 January 2021

Recurrence of Congenital Heart Defects in Families

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

7 January 2021

Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01523.X

7 January 2021

10.1111/J.1399-0004.2010.01523.X

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20807224%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017