Hereditary hemorrhagic telangiectasia

Known as: osler rendus syndrome weber, rendu weber osler, Rendu Osler Weber 
An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding… (More)
National Institutes of Health

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ACVRL1 geneACVRL1 wt AlleleAnemiaAngiodysplasia
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Narrower (4)

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)OSLER-RENDU-WEBER SYNDROME 2Osler-rendu-weber syndrome 3Telangiectasia, Hereditary Hemorrhagic, Type 4

Papers overview

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Highly Cited
2006
Highly Cited
2006
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations.
Hereditary hemorrhagic telangiectasia (HHT) is a genetically heterogeneous vascular dysplasia with multiple telangiectases and… (More)
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Review
2006
Review
2006
Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations.
STUDY PURPOSE To formulate recommendations about clinical management of liver involvement in hereditary hemorrhagic… (More)
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Highly Cited
2006
Highly Cited
2006
A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.
Hereditary hemorrhagic telangiectasia (HHT) is a genetically and clinically heterogeneous multisystem vascular dysplasia… (More)
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Highly Cited
2004
Highly Cited
2004
Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia.
Pulmonary arteriovenous malformations (PAVMs) associated with hereditary hemorrhagic telangiectasia may cause severe cerebral… (More)
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Highly Cited
2001
Highly Cited
2001
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.
BACKGROUND Most patients with familial primary pulmonary hypertension have defects in the gene for bone morphogenetic protein… (More)
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Highly Cited
2001
Highly Cited
2001
Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia.
BACKGROUND AND PURPOSE Patients with hereditary hemorrhagic telangiectasia (HHT) are at risk for developing cerebral vascular… (More)
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Highly Cited
2000
Highly Cited
2000
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).
Hereditary Hemorrhagic Telangiectasia (HHT) is easily recognized in individuals displaying the classical triad of epistaxis… (More)
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Highly Cited
2000
Highly Cited
2000
Liver disease in patients with hereditary hemorrhagic telangiectasia.
BACKGROUND Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber disease, is an autosomal dominant disorder characterized… (More)
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Highly Cited
1999
Highly Cited
1999
A murine model of hereditary hemorrhagic telangiectasia.
Endoglin (CD105), an accessory protein of the TGF-beta receptor superfamily, is highly expressed on endothelial cells. Hereditary… (More)
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Highly Cited
1996
Highly Cited
1996
Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
Hereditary haemorrhagic telangiectasia, or Osler–Rendu–Weber (ORW) syndrome, is an autosomal dominant vascular dysplasia. So far… (More)
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