Hereditary haemorrhagic telangiectasia: a clinical and scientific review (Q24600839)

European Journal of Human Genetics

Europe PubMed Central

title

Hereditary haemorrhagic telangiectasia: a clinical and scientific review (English)

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Claire L Shovlin

2

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author name string

Fatima S Govani

series ordinal

1

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language of work or name

English

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publication date

July 2009

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published in

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volume

17

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issue

7

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page(s)

860-71

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cites work

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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

7 April 2017

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

7 April 2017

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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease

7 April 2017

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Interaction and functional interplay between endoglin and ALK-1, two components of the endothelial transforming growth factor-beta receptor complex

7 April 2017

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Activin receptor-like kinase (ALK)1 is an antagonistic mediator of lateral TGFbeta/ALK5 signaling

7 April 2017

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

7 April 2017

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BMP-9 signals via ALK1 and inhibits bFGF-induced endothelial cell proliferation and VEGF-stimulated angiogenesis

7 April 2017

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Soluble endoglin contributes to the pathogenesis of preeclampsia

7 April 2017

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Smad-dependent and Smad-independent pathways in TGF-beta family signalling

7 April 2017

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ALK5- and TGFBR2-independent role of ALK1 in the pathogenesis of hereditary hemorrhagic telangiectasia type 2

7 April 2017

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Contrast echocardiography for pulmonary arteriovenous malformations screening: does any bubble matter?

7 April 2017

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Radiation dose to the brain and subsequent risk of developing brain tumors in pediatric patients undergoing interventional neuroradiology procedures

27 September 2017

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Transforming growth factor beta-induced Smad1/5 phosphorylation in epithelial cells is mediated by novel receptor complexes and is essential for anchorage-independent growth

27 September 2017

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Extracellular control of TGFbeta signalling in vascular development and disease

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Contrast echocardiography grading predicts pulmonary arteriovenous malformations on CT.

27 September 2017

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Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network

27 September 2017

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Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations

27 September 2017

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SMAD4 mutations found in unselected HHT patients.

27 September 2017

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Endoglin null endothelial cells proliferate faster and are more responsive to transforming growth factor beta1 with higher affinity receptors and an activated Alk1 pathway

27 September 2017

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A rare and misdiagnosed bleeding disorder: hereditary hemorrhagic telangiectasia

27 September 2017

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No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia.

27 September 2017

1 reference

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Endoglin promotes endothelial cell proliferation and TGF-beta/ALK1 signal transduction

27 September 2017

1 reference

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Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians

27 September 2017

1 reference

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

27 September 2017

1 reference

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

27 September 2017

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British Thoracic Society guidelines for the management of suspected acute pulmonary embolism

27 September 2017

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Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century.

27 September 2017

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Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome

27 September 2017

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

27 September 2017

1 reference

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Estimated risks of radiation-induced fatal cancer from pediatric CT.

27 September 2017

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986493

Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986493

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986493

An abnormal concentration of cases of Rendu-Osler disease in the Valserine valley of the French Jura: a genealogical and demographic study

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986493

Hereditary haemorrhagic telangiectasia: a clinical analysis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986493

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986493

Post-NICE 2008: Antibiotic prophylaxis prior to dental procedures for patients with pulmonary arteriovenous malformations (PAVMs) and hereditary haemorrhagic telangiectasia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986493

Screening for pulmonary arteriovenous malformations using transthoracic contrast echocardiography: a prospective study.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986493

Estimates of maternal risks of pregnancy for women with hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): suggested approach for obstetric services.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986493

Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986493

Excess lifetime cancer mortality risk attributable to radiation exposure from computed tomography examinations in children.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986493

Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986493

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986493

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986493

Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986493

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986493

28 November 2018

1 reference

12 December 2020

A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3

1 reference

12 December 2020

Hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

Hereditary hemorrhagic telangiectasia; nine cases in one Negro family, with special reference to hepatic lesions

1 reference

12 December 2020

Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations

1 reference

12 December 2020

Patients with Hereditary Hemorrhagic Telangectasia (HHT) exhibit a deficit of polymorphonuclear cell and monocyte oxidative burst and phagocytosis: a possible correlation with altered adaptive immune responsiveness in HHT

1 reference

12 December 2020

Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: support of homozygous lethality

1 reference

12 December 2020

Management of pulmonary arteriovenous malformations in pulmonary hypertensive patients: a pressure to embolise?

1 reference

12 December 2020

Elevated factor VIII in hereditary haemorrhagic telangiectasia (HHT): association with venous thromboembolism

1 reference

12 December 2020

Embolisation of pulmonary arteriovenous malformations: no consistent effect on pulmonary artery pressure

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2009.35

1 reference

Dimensions Publication ID

3066085

1019720360

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3066085

1 reference

1 reference

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