(Q37662207)

21 August 2017

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title

Genetic origins of pediatric heart disease (English)

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21 August 2017

D Woodrow Benson

1

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21 August 2017

23 December 2009

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21 August 2017

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21 August 2017

31

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21 August 2017

3

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21 August 2017

422-429

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https://scigraph.springernature.com/pub.10.1007/s00246-009-9607-y

21 August 2017

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cites work

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https://api.crossref.org/works/10.1007%2FS00246-009-9607-Y

Nkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction system

21 January 2018

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

21 January 2018

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Preimplantation genetic diagnosis for Marfan syndrome

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12 December 2020

Drosophila NK-homeobox genes

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Incidence of congenital heart disease: II. Prenatal incidence

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The gene tinman is required for specification of the heart and visceral muscles in Drosophila

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Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies

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Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5

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Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect

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Transcription factors and congenital heart defects

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Perinatal loss of Nkx2-5 results in rapid conduction and contraction defects

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Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pedia

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Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndrome

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Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5

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A second generation human haplotype map of over 3.1 million SNPs

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

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Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block

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Mapping and sequencing of structural variation from eight human genomes

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Sodium channel mutations and susceptibility to heart failure and atrial fibrillation

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12 December 2020

Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa

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12 December 2020

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

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12 December 2020

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

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12 December 2020

The familial incidence of congenital malformation of the heart

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12 December 2020

Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD

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12 December 2020

Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene

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12 December 2020

Molecular cloning and characterization of human cardiac homeobox gene CSX1

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12 December 2020

Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis

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12 December 2020

Global variation in copy number in the human genome

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12 December 2020

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The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development

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12 December 2020

Csx: a murine homeobox-containing gene specifically expressed in the developing heart

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12 December 2020

Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene

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12 December 2020

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

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Complex modular cis-acting elements regulate expression of the cardiac specifying homeobox gene Csx/Nkx2.5.

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12 December 2020

Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve

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12 December 2020

NKX2.5mutations in patients with congenital heart disease

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12 December 2020

Familial congenital heart disease, progressive atrioventricular block and the cardiac homeobox transcription factor gene NKX2.5:

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12 December 2020

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A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?

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Genetic and genomic discovery using family studies

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12 December 2020

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

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12 December 2020

Bicuspid aortic valve is heritable

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12 December 2020

A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease.

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12 December 2020

Slow progressive conduction and contraction defects in loss of Nkx2-5 mice after cardiomyocyte terminal differentiation

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12 December 2020

"Are we there yet?": Deciding when one has demonstrated specific genetic causation in complex diseases and quantitative traits.

1 reference

12 December 2020

10.1007/S00246-009-9607-Y

Identifiers

DOI

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21 August 2017

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PubMed ID

20033147