Executive summary of the 14th HHT international scientific conference

Endoluminal Biopsy for Molecular Profiling of Human Brain Vascular Malformations

(2022) Ethan Andrew Winkler et al.   NEUROLOGY

Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variants

(2022) Katie E Joyce et al.   Blood Advances

Postembolization Persistence of Pulmonary Arteriovenous Malformations: A Retrospective Comparison of Coils and Amplatzer and Micro Vascular Plugs Using Propensity Score Weighting

(2022) Muhammad A. Latif et al.   AMERICAN JOURNAL OF ROENTGENOLOGY

Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT

(2022) Thi Thao Truc Le et al.   Orphanet Journal of Rare Diseases

Embolization of Recurrent Pulmonary Arteriovenous Malformations by Ethylene Vinyl Alcohol Copolymer (Onyx®) in Hereditary Hemorrhagic Telangiectasia: Safety and Efficacy

(2022) Salim A. Si-Mohamed et al.   Journal of Personalized Medicine

Efficacy and Safety of Tacrolimus as Treatment for Bleeding Caused by Hereditary Hemorrhagic Telangiectasia: An Open-Label, Pilot Study

(2022) Josefien Hessels et al.   Journal of Clinical Medicine

BMP10 functions independently from BMP9 for the development of a proper arteriovenous network

(2022) Hyunwoo Choi et al.   ANGIOGENESIS

Evolution of Pulmonary Arteriovenous Malformations

(2022) J. Hessels et al.   CHEST

Randomized, double-blind, placebo-controlled, crossover trial of oral doxycycline for epistaxis in hereditary hemorrhagic telangiectasia

(2022) K. P. Thompson et al.   Orphanet Journal of Rare Diseases

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia

(2021) Marie E. Faughnan et al.   ANNALS OF INTERNAL MEDICINE

Defective Flow-Migration Coupling Causes Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia

(2021) Hyojin Park et al.   CIRCULATION

Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5

(2021) Ahmed Farhan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care

(2021) C.L. Shovlin et al.   European Journal of Medical Genetics

CT dose optimization for the detection of pulmonary arteriovenous malformation (PAVM): A phantom study

(2020) J. Greffier et al.   Diagnostic and Interventional Imaging

BMP-SMAD1/5 Signaling Regulates Retinal Vascular Development

(2020) Andreas Benn et al.   Biomolecules

Homozygous GDF2-Related Hereditary Hemorrhagic Telangiectasia in a Chinese Family

(2020) Jinrong Liu et al.   PEDIATRICS

Diagnostic Yield of Rescreening Adults for Pulmonary Arteriovenous Malformations

(2019) Waleed Brinjikji et al.   JOURNAL OF VASCULAR AND INTERVENTIONAL RADIOLOGY

Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1

(2019) Daniel A. Snellings et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Post-embolotherapy pulmonary arteriovenous malformation follow-up: a role for graded transthoracic contrast echocardiography prior to high-resolution chest CT

(2019) Daniel M. DePietro et al.   CHEST

Loss of Endothelial Endoglin Promotes High-Output Heart Failure Through Peripheral Arteriovenous Shunting Driven by VEGF Signaling

(2019) Simon Tual-Chalot et al.   CIRCULATION RESEARCH

Vascular deficiency of Smad4 causes arteriovenous malformations: a mouse model of Hereditary Hemorrhagic Telangiectasia

(2018) Angela M. Crist et al.   ANGIOGENESIS

SMAD4 Prevents Flow Induced Arterial-Venous Malformations by Inhibiting Casein Kinase 2

(2018) Roxana Ola et al.   CIRCULATION

Applicability of the Curaçao Criteria for the Diagnosis of Hereditary Hemorrhagic Telangiectasia in the Pediatric Population

(2018) Kristy S. Pahl et al.   JOURNAL OF PEDIATRICS

SMAD4 Deficiency Leads to Development of Arteriovenous Malformations in Neonatal and Adult Mice

(2018) Yong Hwan Kim et al.   Journal of the American Heart Association

Follow-up of pulmonary right-to-left shunt in hereditary haemorrhagic telangiectasia

(2016) Veronique M.M. Vorselaars et al.   EUROPEAN RESPIRATORY JOURNAL

Defective fluid shear stress mechanotransduction mediates hereditary hemorrhagic telangiectasia

(2016) Nicolas Baeyens et al.   JOURNAL OF CELL BIOLOGY

PI3 kinase inhibition improves vascular malformations in mouse models of hereditary haemorrhagic telangiectasia

(2016) Roxana Ola et al.   Nature Communications

BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia

(2013) Whitney L. Wooderchak-Donahue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cumulative Radiation Dose in Patients With Hereditary Hemorrhagic Telangiectasia and Pulmonary Arteriovenous Malformations

(2013) Kate Hanneman et al.   CANADIAN ASSOCIATION OF RADIOLOGISTS JOURNAL-JOURNAL DE L ASSOCIATION CANADIENNE DES RADIOLOGISTES

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia

(2012) Michael Benzinou et al.   Nature Communications

Pathogenesis of Arteriovenous Malformations in the Absence of Endoglin

(2010) Marwa Mahmoud et al.   CIRCULATION RESEARCH

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

(2009) M. E. Faughnan et al.   JOURNAL OF MEDICAL GENETICS