ArticleJournal of medical genetics1996
Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2.
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 21 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 86 citations in OpenAlex.
- Hepatic Vascular Variants in Hereditary Haemorrhagic Telangiectasia: Imaging findings.Sultan Qaboos University medical journal · 2023Article
- Pulmonary hypertension in hereditary hemorrhagic telangiectasia: A clinical review.Pulmonary circulation · 2023Review
- Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-β Signaling.Advances in experimental medicine and biology · 2021Article
- Effective treatment of gastrointestinal bleeding with thalidomide--Chances and limitations.World journal of gastroenterology · 2016Review
- Connective tissue disorders and cardiovascular complications: the indomitable role of transforming growth factor-beta signaling.Advances in experimental medicine and biology · 2014Review
- CT Manifestations of Osler-Weber-Rendu Syndrome in Liver: Report of Three Cases.Journal of clinical imaging science · 2012Article
- 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
- Liver transplantation for hereditary hemorrhagic telangiectasia: Report of the European liver transplant registry.Annals of surgery · 2006Article
- Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.Human genetics · 2005Article
- Does any lower gastrointestinal bleeding in patients suffering from hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu) necessitate a full colonic visualization?International journal of colorectal disease · 2004Article
- The value of screening for multiple arterio-venous malformations in hereditary hemorrhagic telangiectasia: a diagnostic study.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2004Article
- Giant spinal perimedullary fistula in hereditary haemorrhagic telangiectasia: diagnosis, endovascular treatment and review of the literature.Neuroradiology · 2003Review
- Visceral manifestations in hereditary haemorrhagic telangiectasia type 2.Journal of medical genetics · 2003Article
- Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century.Postgraduate medical journal · 2003Review
- Article
- Genetic aspects of cerebrovascular malformations.Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences · 2000Article
- Supermodels and disease: insights from the HHT mice.The Journal of clinical investigation · 1999Review
- 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
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous dominant disorder. Two disease loci have been mapped to chromosomes 9q3 and 12q. In a large pedigree, with an unusually high number of patients with liver vascular malformations, both previously mapped loci have been excluded. The loci for two other inherited vascular malformation diseases, cerebral cavernous malformations and multiple cutaneous and mucosal venous malformations, have also been excluded. Thus we conclude that at least a third, as yet unmapped, HHT locus does exist, possibly associated with high frequency of liver involvement.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.