Familial recurrence of congenital heart disease: an overview and review of the literature. (Q36647833)

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21 December 2019

review article

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title

Familial recurrence of congenital heart disease: an overview and review of the literature (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17091259%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

main subject

congenital disorder

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congenital heart disease

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4

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21 December 2019

Giulio Calcagni

1

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21 December 2019

author name string

M Cristina Digilio

2

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21 December 2019

Anna Sarkozy

3

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21 December 2019

Bruno Marino

5

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21 December 2019

publication date

8 November 2006

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European Journal of Pediatrics

21 December 2019

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17091259%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

volume

166

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21 December 2019

issue

2

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21 December 2019

page(s)

111-116

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Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.

21 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00431-006-0295-9

Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic-environmental interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-006-0295-9

Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-006-0295-9

Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-006-0295-9

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

21 January 2018

1 reference

12 December 2020

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

1 reference

12 December 2020

Familial clustering of atrioventricular canal defects

1 reference

12 December 2020

Familial atrioventricular septal defect: possible genetic mechanisms

1 reference

12 December 2020

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.

1 reference

12 December 2020

Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects

1 reference

12 December 2020

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

1 reference

12 December 2020

Atrioventricular canal defect without Down syndrome: a heterogeneous malformation

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital heart defect in sibs with discordant karyotypes

1 reference

12 December 2020

Autosomal dominant inheritance of left ventricular outflow tract obstruction

1 reference

12 December 2020

Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21

1 reference

12 December 2020

Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries.

1 reference

12 December 2020

Mutation in myosin heavy chain 6 causes atrial septal defect

1 reference

12 December 2020

Atrioventricular canal in Down syndrome. Prevalence of associated cardiac malformations compared with patients without Down syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Smad2 role in mesoderm formation, left-right patterning and craniofacial development

1 reference

12 December 2020

PTPN11 mutations play a minor role in isolated congenital heart disease

1 reference

12 December 2020

Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion

1 reference

12 December 2020

Pregnancy and its outcome in women with and without surgical treatment of congenital heart disease

1 reference

12 December 2020

Mutations in NOTCH1 cause aortic valve disease

1 reference

12 December 2020

CRELD1 andGATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects

1 reference

12 December 2020

A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21.

1 reference

12 December 2020

The recurrence risk in congenital heart disease

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12 December 2020

Autosomal dominant inheritance of endocardial cushion defect

1 reference

12 December 2020

Evidence of congenital heart disease in the offspring of parents with atrioventricular defects

1 reference

12 December 2020

Familial atrioventricular septal defect: possible genetic mechanism

1 reference

12 December 2020

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

1 reference

12 December 2020

Additional evidence thatPTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect

1 reference

12 December 2020

Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2).

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital heart disease caused by mutations in the transcription factor NKX2-5

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12 December 2020

NKX2.5 mutations in patients with tetralogy of fallot

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12 December 2020

Atrioventricular defects--a study of 92 families

1 reference

12 December 2020

The inheritance of conotruncal malformations: a review and report of two siblings with tetralogy of Fallot with pulmonary atresia

1 reference

12 December 2020

Exclusion of linkage with chromosome 21 in families with recurrence of non-Down's atrioventricular canal

1 reference

12 December 2020

Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects

1 reference

12 December 2020

Conotruncal malformation complex: examples of possible monogenic inheritance

1 reference

12 December 2020

Update on counseling the family with a first-degree relative with a congenital heart defect

1 reference

12 December 2020

A family study in transposition of the great vessels and in tricuspid atresia

1 reference

12 December 2020

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

1 reference

12 December 2020

Possible genes for left heart formation on 11q23.3.

1 reference

12 December 2020

Risk of Congenital Heart Defects in Relatives of Patients With Atrioventricular Canal

1 reference

12 December 2020

10.1007/S00431-006-0295-9

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17091259%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

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