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Hereditary Hemorrhagic Telangiectasia with Recurrent Epistaxis, Telangiectasia, Hepatic Arteriovenous Malformation, and a Poorly Developed Middle Cerebral Artery in a Patient with a Novel Mutation in the ACVRL1 Gene

Internal Medicine, 2024, pp.3485-24

2024

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A Case of Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation

Internal Medicine, 2020, pp.3625-19

2020

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

American journal of human genetics, 2019-11, Vol.105 (5), p.894-906

2019

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Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)

Genetics in medicine, 2020-07, Vol.22 (7), p.1201-1205

2020

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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

Human mutation, 2015-12, Vol.36 (12), p.1113-1127

2015

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Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

BMC medical genomics, 2021-12, Vol.14 (1), p.288-288, Article 288

2021

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Peliosis Hepatis with Chylous Ascites in a Dog

Journal of comparative pathology, 2021-08, Vol.187, p.63-67

2021

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Arterial endoglin does not protect against arteriovenous malformations

Angiogenesis (London), 2020-11, Vol.23 (4), p.559-566

2020

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Alk1 controls arterial endothelial cell migration in lumenized vessels

Development (Cambridge), 2016-07, Vol.143 (14), p.2593-2602

2016

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Longitudinal Assessment of Curaçao Criteria in Children with Hereditary Hemorrhagic Telangiectasia

The Journal of pediatrics, 2023-12, Vol.263, p.113665, Article 113665

2023

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Endothelial cell SMAD6 balances Alk1 function to regulate adherens junctions and hepatic vascular development

Development (Cambridge), 2023-11, Vol.150 (21)

2023

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Interaction between alk1 and blood flow in the development of arteriovenous malformations

Development (Cambridge), 2011-04, Vol.138 (8), p.1573-1582

2011

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Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.28-14, Article 28

2019

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Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia

Clinical genetics, 2024-05, Vol.105 (5), p.543-548

2024

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Generation of a Syngeneic Heterozygous ACVRL1 (wt/mut) Knockout iPS Cell Line for the In Vitro Study of HHT2-Associated Angiogenesis

Cells (Basel, Switzerland), 2023-06, Vol.12 (12), p.1600

2023

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A novel TRIP11-FLT3 fusion in a patient with a myeloid/lymphoid neoplasm with eosinophilia

Cancer genetics, 2017-10, Vol.216, p.10-15

2017

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Genetic variants and clinical phenotypes in Korean patients with hereditary hemorrhagic telangiectasia

Clinical and Experimental Otorhinolaryngology, 2021, 14(4), , pp.399-406

2021

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Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria?

American journal of medical genetics. Part A, 2013-03, Vol.161A (3), p.461-466

2013

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Hereditary Haemorrhagic Telangiectasia, an Inherited Vascular Disorder in Need of Improved Evidence-Based Pharmaceutical Interventions

Genes, 2021-01, Vol.12 (2), p.174

2021

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Research Article Human and Medical Genetics

Genetics and molecular biology, 2020-01, Vol.43 (1), p.1

2020

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Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia

International journal of molecular sciences, 2018-10, Vol.19 (10), p.3203

2018

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Distribution of Cerebrovascular Phenotypes According to Variants of the ENG and ACVRL1 Genes in Subjects with Hereditary Hemorrhagic Telangiectasia

Journal of clinical medicine, 2022-05, Vol.11 (10), p.2685

2022

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Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation

Internal Medicine, 2020/01/15, Vol.59(2), pp.221-227

2020

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Circulating Bmp10 acts through endothelial Alk1 to mediate flow-dependent arterial quiescence

Development (Cambridge), 2013-08, Vol.140 (16), p.3403-3412

2013

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An update on preclinical models of hereditary haemorrhagic telangiectasia: Insights into disease mechanisms

Frontiers in medicine, 2022-09, Vol.9, p.973964-973964

2022

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Hereditary Hemorrhagic Telangiectasia with Recurrent Epistaxis, Telangiectasia, Hepatic Arteriovenous Malformation, and a Poorly Developed Middle Cerebral Artery in a Patient with a Novel Mutation in the ACVRL1 Gene

A Case of Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation

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

Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

Peliosis Hepatis with Chylous Ascites in a Dog

Arterial endoglin does not protect against arteriovenous malformations

Alk1 controls arterial endothelial cell migration in lumenized vessels

Longitudinal Assessment of Curaçao Criteria in Children with Hereditary Hemorrhagic Telangiectasia

Endothelial cell SMAD6 balances Alk1 function to regulate adherens junctions and hepatic vascular development

Interaction between alk1 and blood flow in the development of arteriovenous malformations

Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia

Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia

Generation of a Syngeneic Heterozygous ACVRL1 (wt/mut) Knockout iPS Cell Line for the In Vitro Study of HHT2-Associated Angiogenesis

A novel TRIP11-FLT3 fusion in a patient with a myeloid/lymphoid neoplasm with eosinophilia

Genetic variants and clinical phenotypes in Korean patients with hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria?

Hereditary Haemorrhagic Telangiectasia, an Inherited Vascular Disorder in Need of Improved Evidence-Based Pharmaceutical Interventions

Research Article Human and Medical Genetics

Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia

Distribution of Cerebrovascular Phenotypes According to Variants of the ENG and ACVRL1 Genes in Subjects with Hereditary Hemorrhagic Telangiectasia

Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation

Circulating Bmp10 acts through endothelial Alk1 to mediate flow-dependent arterial quiescence

An update on preclinical models of hereditary haemorrhagic telangiectasia: Insights into disease mechanisms

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