Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia. - Wikidata - awgldk - TriplyDB

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

http://www.wikidata.org/entity/Q43146590

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Hereditary haemorrhagic telangiectasia: a clinical and scientific review Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis Biology of cerebral arteriovenous malformations with a focus on inflammation.Interaction between alk1 and blood flow in the development of arteriovenous malformations The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia.Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique.Polymorphisms in ACVRL1 and endoglin genes are not associated with sporadic and HHT-related brain AVMs in Dutch patients Optimal management of hereditary hemorrhagic telangiectasia.Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene.Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia Severity score for hereditary hemorrhagic telangiectasia.Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia.Arteriovenous malformation in the adult mouse brain resembling the human disease.Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14 BMP9 Crosstalk with the Hippo Pathway Regulates Endothelial Cell Matricellular and Chemokine Responses.Neurovascular manifestations in hereditary hemorrhagic telangiectasia: imaging features and genotype-phenotype correlations.An unusual cause of hemoptysis in a young female Familial occurrence of brain arteriovenous malformations: a systematic review Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia.Vascular injury triggers Krüppel-like factor 6 mobilization and cooperation with specificity protein 1 to promote endothelial activation through upregulation of the activin receptor-like kinase 1 gene.Hepatic Shunting of Eggs and Pulmonary Vascular Remodeling in Bmpr2(+/-) Mice with Schistosomiasis.Oxidative stress contributes to endothelial dysfunction in mouse models of hereditary hemorrhagic telangiectasia.Hepatic sonography in patients with hereditary hemorrhagic telangiectasia hospitalized for epistaxis Minimal homozygous endothelial deletion of Eng with VEGF stimulation is sufficient to cause cerebrovascular dysplasia in the adult mouse.Life expextancy of parents with Hereditary Haemorrhagic Telangiectasia.Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease).SMAD4 mutations found in unselected HHT patients.Brain arteriovenous malformation multiplicity predicts the diagnosis of hereditary hemorrhagic telangiectasia: quantitative assessment Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.Pulmonary arteriovenous malformations and migraine: a new vision.Genetic considerations relevant to intracranial hemorrhage and brain arteriovenous malformations.Soluble endoglin modulates aberrant cerebral vascular remodeling 20-year follow-up study of Danish HHT patients-survival and causes of death Endothelial signaling and the molecular basis of arteriovenous malformation.Early neonatal complications from pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: case report and review of the literature.Hereditary hemorrhagic telangiectasia patients can tolerate anticoagulation.TGF-β & BMP receptors endoglin and ALK1: overview of their functional role and status as antiangiogenic targets.Mouse models of hereditary hemorrhagic telangiectasia: recent advances and future challenges.Pericytes as targets in hereditary hemorrhagic telangiectasia.

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Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

http://www.wikidata.org/entity/Q43146590

description

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name

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

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Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

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type

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Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

@en

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

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prefLabel

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

@en

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

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Journal of Medical Genetics

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Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia

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B P C Koeleman

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C J J Westermann

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J J Mager

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J K Ploos van Amstel

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R J Snijder

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T G W Letteboer

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P2860

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

Should asymptomatic patients with hereditary haemorrhagic telangiectasia (HHT) be screened for cerebral vascular malformations? Data from 22,061 years of HHT patient life

Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms

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

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

Pulmonary arteriovenous malformation.

Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis.

Visceral manifestations in hereditary haemorrhagic telangiectasia type 2

Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.

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