ArticleJournal of medical genetics1994
Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity.
Article in Journal of medical genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 68 citations in OpenAlex.
- High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia.European journal of neurology · 2024Article
- Founder Effects in Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2021Review
- Article
- CT Manifestations of Osler-Weber-Rendu Syndrome in Liver: Report of Three Cases.Journal of clinical imaging science · 2012Article
- Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures.Wiener klinische Wochenschrift · 2006Review
- [Hereditary hemorrhagic telangiectasia. A rare treatable cause of stroke].Der Nervenarzt · 2005Article
- Visceral manifestations in hereditary haemorrhagic telangiectasia type 2.Journal of medical genetics · 2003Article
- 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
- A murine model of hereditary hemorrhagic telangiectasia.The Journal of clinical investigation · 1999Article
- Review
- Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative.The Journal of clinical investigation · 1997Article
- The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.American journal of human genetics · 1997Article
- Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2.Journal of medical genetics · 1996Article
- Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?Journal of medical genetics · 1996Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder with unknown pathophysiology that is characterised by arteriovenous lesions and recurrent haemorrhage in virtually every organ. Linkage of HHT to markers on chromosome 9q has recently been reported. In this study we report confirmation of this localisation in three unrelated families of Dutch origin. A fourth unrelated HHT family, in which considerably fewer pulmonary arteriovenous malformations (PAVM) were present, yielded evidence for non-linkage to this region. We conclude that HHT is a genetically heterogeneous disorder and our results indicate that the presence of PAVM may be more common in patients with a chromosome 9 linked form of HHT than in patients with the non-linked form.
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