[HTML][HTML] Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis

J McDonald, P Bayrak-Toydemir, RE Pyeritz - Genetics in medicine, 2011 - Elsevier
Abstract Abstract Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is
a disorder of development of the vasculature characterized by telangiectases and …

The physiological role of endoglin in the cardiovascular system

JM López-Novoa, C Bernabeu - American Journal of …, 2010 - journals.physiology.org
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 …

Genes and the preeclampsia syndrome

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 …

[HTML][HTML] Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers

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 …

A long diagnostic delay in patients with hereditary haemorrhagic telangiectasia: a questionnaire-based retrospective study

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 …

Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations

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 …

Hereditary haemorrhagic telangiectasia

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 …

[HTML][HTML] Pathogenic variant frequencies in hereditary haemorrhagic telangiectasia support clinical evidence of protection from myocardial infarction

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 …

Liver involvement in a large cohort of patients with hereditary hemorrhagic telangiectasia: echo-color-Doppler vs multislice computed tomography study

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) …

Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children

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 …