Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. - Wikidata - awgldk - TriplyDB

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.

http://www.wikidata.org/entity/Q35012638

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Using network analysis to study behavioural phenotypes: an example using domestic dogs.Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension The pathobiology of vascular malformations: insights from human and model organism genetics.Research on potential biomarkers in hereditary hemorrhagic telangiectasia.Decreased Endoglin expression in the pulmonary vasculature of nitrofen-induced congenital diaphragmatic hernia rat model.Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.Transcription factor KLF6 upregulates expression of metalloprotease MMP14 and subsequent release of soluble endoglin during vascular injury.Efficacy and safety of thalidomide for the treatment of severe recurrent epistaxis in hereditary haemorrhagic telangiectasia: results of a non-randomised, single-centre, phase 2 study.Dietary supplement use and nosebleeds in hereditary haemorrhagic telangiectasia - an observational study.Alk1 controls arterial endothelial cell migration in lumenized vessels Spinal arteriovenous fistulae in patients with hereditary hemorrhagic telangiectasia: A case report and systematic review of the literature.Defective fluid shear stress mechanotransduction mediates hereditary hemorrhagic telangiectasia.Can Iron Treatments Aggravate Epistaxis in Some Patients With Hereditary Hemorrhagic Telangiectasia?Recent advances in understanding contextual TGFβ signaling The role of genetics in pulmonary arterial hypertension.High-Output Cardiac Failure Due to Hereditary Hemorrhagic Telangiectasia: A Case of an Extra-Cardiac Left to Right Shunt.Endoglin-based biological therapy in the treatment of angiogenesis-dependent pathologies.Diagnosis and treatment of hereditary hemorrhagic telangiectasia in a pediatric patient with chronic cyanosis.PI3 kinase inhibition improves vascular malformations in mouse models of hereditary haemorrhagic telangiectasia.A mouse model of hereditary hemorrhagic telangiectasia generated by transmammary-delivered immunoblocking of BMP9 and BMP10.Signs and genetics of rare cancer syndromes with gastroenterological features.Executive summary of the 11th HHT international scientific conference.Thoracic Aortic Aneurysm Development in Patients with Bicuspid Aortic Valve: What Is the Role of Endothelial Cells?Endothelial cells respond to the direction of mechanical stimuli through SMAD signaling to regulate coronary artery size.Non-invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers.Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.ALK1 signaling in development and disease: new paradigms.Cerebral Abscess Associated With Odontogenic Bacteremias, Hypoxemia, and Iron Loading in Immunocompetent Patients With Right-to-Left Shunting Through Pulmonary Arteriovenous Malformations.Hemoglobin Is a Vital Determinant of Arterial Oxygen Content in Hypoxemic Patients with Pulmonary Arteriovenous Malformations.Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia.Inactivating mutations in Drosha mediate vascular abnormalities similar to hereditary hemorrhagic telangiectasia.Classifying Pulmonary Hypertension in Hereditary Hemorrhagic Telangiectasia. Hemodynamics Matter.Vascular deficiency of Smad4 causes arteriovenous malformations: a mouse model of Hereditary Hemorrhagic Telangiectasia.Evaluation of Possible Proximate Mechanisms Underlying the Kinship Theory of Intragenomic Conflict in Social Insects.Rare variants in RNF213, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced pulmonary hypertension in mice.Transcatheter occlusion of complex pulmonary arteriovenous malformations in a cyanotic child

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Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.

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Frontiers in Genetics

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Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.

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Chad VanSant Webb

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David A Stevenson

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Jamie McDonald

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Kevin Whitehead

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Pinar Bayrak-Toydemir

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Whitney Wooderchak-Donahue

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P2860

Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease

A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5

The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2

Genetics and genomics of pulmonary arterial hypertension

Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis

Hereditary haemorrhagic telangiectasia: a clinical analysis.

Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans.

Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

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hereditary hemorrhagic telangiectasia

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