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Chapter
Human Genetics of Ebstein Anomaly
Ebstein anomaly (EA) is a rare, congenital cardiac defect of the tricuspid valve with a birth prevalence between 0.5 and 1 in 20,000 [1]. It is characterized by displacement of the tricuspid valve toward the a...
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Chapter
Molecular Pathways and Animal Models of Ebstein’s Anomaly
Ebstein’s anomaly is a congenital malformation of the tricuspid valve characterized by abnormal attachment of the valve leaflets, resulting in varying degrees of valve dysfunction. The anatomic hallmarks of th...
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Article
Open AccesseNOS controls angiogenic sprouting and retinal neovascularization through the regulation of endothelial cell polarity
The roles of nitric oxide (NO) and endothelial NO synthase (eNOS) in the regulation of angiogenesis are well documented. However, the involvement of eNOS in the sprouting of endothelial tip-cells at the vascul...
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Chapter
Human Genetics of Ebstein Anomaly
Ebstein anomaly is a congenital malformation of the tricuspid valve characterized by abnormal attachment of the valve leaflets, resulting in varying degrees of valve dysfunction. The anatomic hallmarks of this...
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Chapter
Molecular Pathways and Animal Models of Ebstein Anomaly
Ebstein anomaly is a congenital malformation of the tricuspid valve characterised by abnormal attachment of the valve leaflets, resulting in varying degrees of valve dysfunction. The anatomic hallmarks of this...
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Chapter
Molecular Pathways and Animal Models of Hypoplastic Left Heart Syndrome
Hypoplastic left heart syndrome (HLHS) is a rare and severe defect in which the structures of the left side of the heart are severely underdeveloped. Only a very small minority of HLHS cases can currently be e...
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Article
Open AccessPartitioning of copy-number genotypes in pedigrees
Copy number variations (CNVs) and polymorphisms (CNPs) have only recently gained the genetic community's attention. Conservative estimates have shown that CNVs and CNPs might affect more than 10% of the genome...