(Q36886900)

16 August 2017

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title

Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease). (English)

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hereditary hemorrhagic telangiectasia

16 August 2017

main subject

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1

Vincent Cottin

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16 August 2017

Gaetan Lesca

3

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ORCID Public Data File 2021

Jean-François Cordier

series ordinal

4

object named as

Jean-François Cordier

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16 August 2017

Sophie Dupuis-Girod

2

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16 August 2017

publication date

1 January 2007

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16 August 2017

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16 August 2017

volume

74

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16 August 2017

issue

4

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16 August 2017

page(s)

361-378

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Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

16 August 2017

cites work

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Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: a further support to the vascular hypothesis

21 January 2018

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Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

21 January 2018

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Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France

21 January 2018

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Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.

21 January 2018

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Functional analysis of mutations in the kinase domain of the TGF-beta receptor ALK1 reveals different mechanisms for induction of hereditary hemorrhagic telangiectasia

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Potential role of modifier genes influencing transforming growth factor-beta1 levels in the development of vascular defects in endoglin heterozygous mice with hereditary hemorrhagic telangiectasia.

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Endoglin-deficient mice, a unique model to study hereditary hemorrhagic telangiectasia

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A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2.

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A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

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A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1.

21 January 2018

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A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5

21 January 2018

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How cells read TGF-beta signals

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Genes and pulmonary arterial hypertension

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Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood

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Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia

21 January 2018

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Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia

21 January 2018

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Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension

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Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

21 January 2018

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Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations

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Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.

21 January 2018

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High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.

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Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

21 January 2018

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Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia

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Angioarchitecture of pulmonary arteriovenous malformations: clinical utility of three-dimensional helical CT.

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Neurological manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): report of 2 cases and review of the literature

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Contrast echocardiography for detection of pulmonary arteriovenous malformations.

21 January 2018

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HHT in childhood: screening for special patients

21 January 2018

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Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): new insights in pathogenesis, complications, and treatment

21 January 2018

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Central nervous system infections associated with hereditary hemorrhagic telangiectasia

21 January 2018

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Pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, and brain abscess.

21 January 2018

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Brain abscess due to Capnocytophaga species, Actinomyces species, and Streptococcus intermedius in a patient with cyanotic congenital heart disease

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Pulmonary arteriovenous fistula presenting as brain abscess

21 January 2018

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Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia

21 January 2018

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Embolization of pulmonary arteriovenous malformations and decrease in prevalence of migraine.

21 January 2018

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Patent foramen ovale, a possible cause of symptomatic migraine: a study of 74 patients with acute ischemic stroke.

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Clinical impact of patent foramen ovale diagnosis with transcranial Doppler

21 January 2018

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Pulmonary arteriovenous malformations: evaluation with CT of the chest before and after treatment

21 January 2018

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Pulmonary nodular opacities in children with hereditary hemorrhagic telangiectasia.

21 January 2018

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Pulmonary varix mimicking pulmonary arteriovenous malformation in a patient with Turner syndrome

21 January 2018

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Pulmonary arteriovenous fistula: detection with magnetic resonance angiography

21 January 2018

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Patent foramen ovale: current pathology, pathophysiology, and clinical status

21 January 2018

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Pulmonary arteriovenous fistula: presentation, diagnosis, and treatment.

21 January 2018

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Contrast echocardiography remains positive after treatment of pulmonary arteriovenous malformations.

21 January 2018

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Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia.

21 January 2018

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The role of echocardiography in screening for pulmonary arteriovenous malformations.

21 January 2018

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Effect of percutaneous transcatheter embolization on pulmonary function, right-to-left shunt, and arterial oxygenation in patients with pulmonary arteriovenous malformations

21 January 2018

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Pulmonary arteriovenous malformation treated with embolotherapy: systemic collateral supply at multidetector CT angiography after 2-20-year follow-up

21 January 2018

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21 January 2018

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Reperfusion of pulmonary arteriovenous malformations after embolotherapy.

21 January 2018

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Embolotherapy of pulmonary arteriovenous malformations: long-term results in 112 patients

21 January 2018

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Combined endovascular and video-assisted thoracoscopic procedure for treatment of a ruptured pulmonary arteriovenous fistula: case report and review of the literature

21 January 2018

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Screening for pulmonary arteriovenous malformations.

21 January 2018

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Pulmonary arteriovenous malformations in children: outcomes of transcatheter embolotherapy

21 January 2018

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Manifestations of hereditary hemorrhagic telangiectasia in children and adolescents

21 January 2018

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Osler-Weber-Rendu disease in an infant

21 January 2018

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Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

21 January 2018

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AJR teaching file: High-output cardiac failure in a patient with a history of hereditary hemorrhagic telangiectasia.

21 January 2018

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Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations

21 January 2018

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Liver transplantation for hereditary hemorrhagic telangiectasia: Report of the European liver transplant registry.

21 January 2018

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Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

21 January 2018

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Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype

21 January 2018

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Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia

21 January 2018

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Brain Abscess: A Need to Screen for Pulmonary Arteriovenous Malformations

21 January 2018

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Long-term Outcome in a Patient With Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia

21 January 2018

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21 January 2018

Identifiers

DOI

10.1159/000103205

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16 August 2017

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