Skip to main content

and
  1. No Access

    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...

    Farbod Sedaghat-Hamedani in Congenital Heart Diseases: The Broken Heart (2024)

  2. No Access

    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...

    Bjarke Jensen, Gregor U. Andelfinger in Congenital Heart Diseases: The Broken Heart (2024)

  3. Article

    Open Access

    eNOS 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...

    Tracy L. Smith, Malika Oubaha, Gael Cagnone in Cellular and Molecular Life Sciences (2021)

  4. No Access

    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...

    Gregor U. Andelfinger in Congenital Heart Diseases: The Broken Heart (2016)

  5. No Access

    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...

    Gregor U. Andelfinger in Congenital Heart Diseases: The Broken Heart (2016)

  6. No Access

    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...

    Florian Wünnemann, Gregor U. Andelfinger in Congenital Heart Diseases: The Broken Heart (2016)

  7. Article

    Open Access

    Partitioning 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...

    Louis-Philippe Lemieux Perreault, Gregor U Andelfinger in BMC Bioinformatics (2010)