Telangiectasia, Hereditary Hemorrhagic
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Subject Areas on Research
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A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
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A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34.
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A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2.
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A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.
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Applicability of the Curaçao Criteria for the Diagnosis of Hereditary Hemorrhagic Telangiectasia in the Pediatric Population.
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Assignment of transforming growth factor beta1 and beta3 and a third new ligand to the type I receptor ALK-1.
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Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia.
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COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II.
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Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?
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Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred.
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Cloning of the promoter region of human endoglin, the target gene for hereditary hemorrhagic telangiectasia type 1.
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Definite hereditary hemorrhagic telangiectasia in a 60-year-old black Kenyan woman: a case report.
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Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.
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Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development.
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Expanding the phenotype of multifocal lymphangioendotheliomatosis with thrombocytopenia.
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Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.
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Genetic abnormalities in hereditary hemorrhagic telangiectasia.
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Genetic heterogeneity in hereditary haemorrhagic telangiectasia.
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Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.
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Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.
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Hereditary hemorrhagic telangiectasia causing high output cardiac failure: treatment with transcatheter embolization.
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Hereditary hemorrhagic telangiectasia.
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Hereditary hemorrhagic telangiectasia.
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Hereditary hemorrhagic telangiectasia.
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Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family.
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Intraoperative choroidal hemorrhage in the Osler-Rendu-Weber syndrome.
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Liver transplantation as definitive therapy for complications after arterial embolization for hepatic manifestations of hereditary hemorrhagic telangiectasia.
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Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.
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Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.
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Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online.
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Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
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Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia.
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Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease.
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Report on the workshop on Hereditary Hemorrhagic Telangiectasia, July 10-11, 1997.
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Role of transforming growth factor beta in human disease.
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SMAD4 mutations found in unselected HHT patients.
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Signaling by the transforming growth factor-beta receptors.
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Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.
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Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1.
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The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.
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The molecular genetics of hereditary hemorrhagic telangiectasia.
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Thoracic endografting in a patient with hereditary hemorrhagic telangiectasia presenting with a descending thoracic aneurysm.
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Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.
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Vascular endothelial growth factor induces abnormal microvasculature in the endoglin heterozygous mouse brain.
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Vascular morphogenesis: tales of two syndromes.
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Keywords of People