[HTML][HTML] A precision medicine approach to hereditary hemorrhagic telangiectasia and complex vascular anomalies

H Al‐Samkari, W Eng - Journal of Thrombosis and Haemostasis, 2022 - Elsevier
Vascular anomalies represent a diverse group of disorders classified broadly as
malformations or tumors and include the second most common hereditary bleeding disorder …

[HTML][HTML] Hereditary hemorrhagic telangiectasia: from molecular biology to patient care

S Dupuis‐Girod, S Bailly, H Plauchu - Journal of Thrombosis and …, 2010 - Elsevier
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder
characterized by severe and recurrent nosebleeds, mucocutaneous telangiectases, and, in …

Clinical features and treatment of hereditary hemorrhagic telangiectasia

S Li, SJ Wang, YQ Zhao - Medicine, 2018 - journals.lww.com
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder
characterized by vascular dysplasia, including typically systemic telangiectases and …

Hereditary haemorrhagic telangiectasia: a clinical and scientific review

FS Govani, CL Shovlin - European journal of human genetics, 2009 - nature.com
The autosomal-dominant trait hereditary haemorrhagic telangiectasia (HHT) affects 1 in 5–
8000 people. Genes mutated in HHT (most commonly for endoglin or activin receptor-like …

Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment

CL Shovlin - Blood reviews, 2010 - Elsevier
Hereditary haemorrhagic telangiectasia, inherited as an autosomal dominant trait, affects
approximately 1 in 5000 people. The abnormal vascular structures in HHT result from …

Vascular malformations syndromes: an update

A Martinez-Lopez, L Salvador-Rodriguez… - Current Opinion in …, 2019 - journals.lww.com
Some vascular malformations can be associated with other anomalies, such as tissue
overgrowth. PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic …

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

J McDonald, W Wooderchak-Donahue… - Frontiers in …, 2015 - frontiersin.org
Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by
telangiectases and arteriovenous malformations (AVMs) in particular locations described in …

Involvement of the TGF-β superfamily signalling pathway in hereditary haemorrhagic telangiectasia

C Bernabéu, FJ Blanco, C Langa… - Journal of Applied …, 2010 - Elsevier
Hereditary haemorrhagic telangiectasia (HHT) is a vascular hereditary autosomic dominant
disease associated with epistaxis, telangiectases, gastrointestinal haemorrhages and …

Hereditary haemorrhagic telangiectasia, an inherited vascular disorder in need of improved evidence-based pharmaceutical interventions

RO Snodgrass, TJA Chico, HM Arthur - Genes, 2021 - mdpi.com
Hereditary haemorrhagic telangiectasia (HHT) is characterised by arteriovenous
malformations (AVMs). These vascular abnormalities form when arteries and veins directly …

Anti-angiogenic therapeutic strategies in hereditary hemorrhagic telangiectasia

DS Ardelean, M Letarte - Frontiers in genetics, 2015 - frontiersin.org
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplastic
disorder, characterized by recurrent nosebleeds (epistaxis), multiple telangiectases and …