(Q58193297)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21815254%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1. (English)

1 reference

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9 February 2020

1 reference

1 reference

3

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9 February 2020

Antonio Novelli

11

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9 February 2020

Bruno Dallapiccola

13

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9 February 2020

author name string

Maria Cristina Digilio

1

1 reference

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9 February 2020

Laura Bernardini

2

1 reference

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9 February 2020

Maria Grazia Giuffrida

4

1 reference

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9 February 2020

Valentina Guida

5

1 reference

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9 February 2020

Anwar Baban

6

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9 February 2020

Paolo Versacci

7

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9 February 2020

Rossella Capolino

8

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9 February 2020

Barbara Torres

9

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9 February 2020

Alessandro De Luca

10

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9 February 2020

Bruno Marino

12

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9 February 2020

language of work or name

English

0 references

publication date

3 August 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21815254%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

9 February 2020

published in

1 reference

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9 February 2020

volume

155A

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9 February 2020

issue

9

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9 February 2020

page(s)

2196-2202

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Del 1p36 syndrome: a newly emerging clinical entity

9 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

Ebstein's malformation of the tricuspid valve: genetic and environmental factors. The Baltimore-Washington Infant Study Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

Distal 8p deletion (8p23.1----8pter): a common deletion?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

The cardiac tissue-restricted homeobox protein Csx/Nkx2.5 physically associates with the zinc finger protein GATA4 and cooperatively activates atrial natriuretic factor gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

Nonrandom association of atrioventricular canal and del (8p) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

Ebstein anomaly: report of a familial occurrence and prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

Persistent atrial standstill in familial Ebstein's anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

Familial biventricular myocardial noncompaction associated with Ebstein's malformation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

Screening of 99 Danish patients with congenital heart disease for GATA4 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34131

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.34131

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21815254%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference