ArticleJournal of medical genetics1996
Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?
Article in Journal of medical genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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Who cites it
26 citing papers in PubMed, 118 citations in OpenAlex.
- Diffuse pulmonary arteriovenous malformation presenting with secondary polycythemia and headaches: a case report.Journal of medical case reports · 2024Article
- Embolization of Recurrent Pulmonary Arteriovenous Malformations by Ethylene Vinyl Alcohol Copolymer (OnyxJournal of personalized medicine · 2022Article
- Neuroradiological Manifestations of Hereditary Hemorrhagic Telangiectasia in 139 Japanese Patients.Neurologia medico-chirurgica · 2015Article
- BMP9 Crosstalk with the Hippo Pathway Regulates Endothelial Cell Matricellular and Chemokine Responses.PloS one · 2015Article
- Hereditary hemorrhagic telangiectasia in Japanese patients.Journal of human genetics · 2014Article
- Endothelial signaling and the molecular basis of arteriovenous malformation.Cellular and molecular life sciences : CMLS · 2013Article
- Article
- Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient.World journal of gastroenterology · 2012Article
- Novel biochemical pathways of endoglin in vascular cell physiology.Journal of cellular biochemistry · 2007Review
- Endoglin and Alk5 regulate epithelial-mesenchymal transformation during cardiac valve formation.Developmental biology · 2007Article
- Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients.Journal of human genetics · 2007Article
- Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.Journal of medical genetics · 2006Article
- Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures.Wiener klinische Wochenschrift · 2006Review
- Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.Human genetics · 2005Article
- Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.Journal of medical genetics · 2003Article
- Visceral manifestations in hereditary haemorrhagic telangiectasia type 2.Journal of medical genetics · 2003Article
- Diagnosis and management of pulmonary arteriovenous malformations.Images in paediatric cardiology · 2002Article
- Potential role of modifier genes influencing transforming growth factor-beta1 levels in the development of vascular defects in endoglin heterozygous mice with hereditary hemorrhagic telangiectasia.The American journal of pathology · 2001Article
- Article
- Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1.The American journal of pathology · 2000Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pulmonary arteriovenous malformations (PAVMs) occur in up to 27% of patients with hereditary haemorrhagic telangiectasia (HHT) and are associated with a rate of paradoxical cerebral embolism at presentation of up to 36%. At least two different loci have been shown for HHT. Mutations in endoglin have been found in some families and the locus designated ORW1. In other families this locus has been excluded. In this paper we confirm that in families linked to ORW1 there is a prevalence of PAVMs among affected members of 29.2%, compared to a prevalence of 2.9% in families in which this locus has been excluded (chi 2 = 19.2, p < 0.001). This information can be used to decide how to screen HHT patients for PAVMs.
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