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(Rendu Osler Weber syndrome)
3,743 results
  • Hereditary Hemorrhagic Telangiectasia: A Rare Cause of Anemia. [Case Reports]
    Cureus 2019; 11(8):e5349Jan W, Tameez Ud Din A, … Nawaz F
  • Hereditary hemorrhagic telangiectasias (HHT), also known as Osler-Weber-Rendu syndrome, is an uncommon genetic disorder. It is inherited as an autosomal dominant disorder with varying penetrance and expression. The diagnosis of HHT requires the presence of at least three out of four clinical criteria. These so-called Curaçao criteria include epistaxis, telangiectasias, visceral involvement, and a…
  • Endoglin Protein Interactome Profiling Identifies TRIM21 and Galectin-3 as New Binding Partners. [Journal Article]
    Cells 2019; 8(9)Gallardo-Vara E, Ruiz-Llorente L, … Bernabeu C
  • Endoglin is a 180-kDa glycoprotein receptor primarily expressed by the vascular endothelium and involved in cardiovascular disease and cancer. Heterozygous mutations in the endoglin gene (ENG) cause hereditary hemorrhagic telangiectasia type 1, a vascular disease that presents with nasal and gastrointestinal bleeding, skin and mucosa telangiectases, and arteriovenous malformations in internal org…
  • Pulmonary Arteriovenous Malformations: A Rare Cause of Ischemic Stroke. [Case Reports]
    Cureus 2019; 11(7):e5141Heiberger CJ, Brown MJ, Sandhu D
  • A 24-year-old woman was admitted for seizures. Magnetic resonance imaging revealed a subacute infarct of the right frontal operculum. Transthoracic echocardiogram showed evidence of patent foramen ovale (PFO). Further study with transesophageal echocardiogram showed no PFO, but signs of a pulmonary arteriovenous malformation (PAVM) that was confirmed on ensuing chest CT angiogram. May-Thurner syn…
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