Endoglin (CD105) is an integral membrane glycoprotein that serves as a coreceptor for members of the transforming growth factor-β superfamily of proteins. A major role for …
S Mütze, S Rudnik-Schöneborn, K Zerres, W Rath - 2008 - degruyter.com
Preeclampsia is specific to pregnancy and is still a leading cause of maternal and perinatal mortality and morbidity, affecting about 3% of women, but the underlying pathogenetic …
C Sabba, G Pasculli, GM Lenato, P Suppressa… - Journal of Thrombosis …, 2007 - Elsevier
Background: Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder characterized by epistaxis, mucocutaneous telangiectases and visceral arteriovenous …
P Pierucci, GM Lenato, P Suppressa, P Lastella… - Orphanet Journal of …, 2012 - Springer
Background The difficulty in establishing a timely correct diagnosis is a relevant matter of concern for several rare diseases. Many rare-disease-affected patients suffer from …
NL Prigoda, S Savas, SA Abdalla, B Piovesan… - Journal of medical …, 2006 - jmg.bmj.com
Background: Hereditary haemorrhagic telangiectasia (HHT) is a genetic disorder present in 1 in 8000 people and associated with arteriovenous malformations. Genetic testing can …
AA Sharathkumar, A Shapiro - Haemophilia, 2008 - Wiley Online Library
Hereditary haemorrhagic telangiectasia (also known as Osler‐Weber‐Rendu syndrome) is a relatively common, under‐recognized autosomal‐dominant disorder that results from …
K Jain, SC McCarley, G Mukhtar, A Ferlin… - Journal of Clinical …, 2023 - mdpi.com
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait, due to a single heterozygous loss-of-function variant, usually in …
P Buonamico, P Suppressa, GM Lenato, G Pasculli… - Journal of …, 2008 - Elsevier
BACKGROUND/AIMS: Hepatic arterio-venous malformations (HAVMs) have been found in 74% of hereditary hemorrhagic telangiectasia (HHT) patients with multislice CT (MSCT) …
P Giordano, GM Lenato, P Suppressa, P Lastella… - The Journal of …, 2013 - Elsevier
OBJECTIVE: To evaluate the clinical features in a large cohort of pediatric patients with genetically confirmed hereditary hemorrhagic telangiectasia (HHT) and to identify possible …