Visceral manifestations in hereditary haemorrhagic telangiectasia type 2 (Q35443190)

8 August 2017

title

Visceral manifestations in hereditary haemorrhagic telangiectasia type 2 (English)

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8 August 2017

Abdalla SA

1

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8 August 2017

Geisthoff UW

2

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8 August 2017

Bonneau D

3

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8 August 2017

Plauchu H

4

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8 August 2017

McDonald J

5

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8 August 2017

Kennedy S

6

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8 August 2017

Faughnan ME

7

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8 August 2017

Letarte M

8

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8 August 2017

language of work or name

English

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publication date

1 July 2003

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Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

volume

40

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8 August 2017

issue

7

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8 August 2017

page(s)

494-502

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Liver disease in hereditary hemorrhagic telangiectasia

8 August 2017

cites work

1 reference

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

12 July 2018

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Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred

12 July 2018

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Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families

12 July 2018

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Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred

12 July 2018

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Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene

12 July 2018

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

12 July 2018

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12 July 2018

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Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms

12 July 2018

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MR of hereditary hemorrhagic telangiectasia: prevalence and spectrum of cerebrovascular malformations.

12 July 2018

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The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2

12 July 2018

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Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: Doppler sonographic screening in a large family.

12 July 2018

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Hereditary hemorrhagic telangiectasia and other intestinal vascular anomalies

12 July 2018

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Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2.

12 July 2018

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Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

12 July 2018

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A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.

12 July 2018

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

12 July 2018

1 reference

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Medical complications of pregnancy in hereditary haemorrhagic telangiectasia

12 July 2018

1 reference

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

12 July 2018

1 reference

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Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity

12 July 2018

1 reference

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Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype

12 July 2018

1 reference

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Genetic heterogeneity in hereditary haemorrhagic telangiectasia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735537

Pulmonary arteriovenous fistulas

12 July 2018

1 reference

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Multiple cerebral arteriovenous malformations (AVMs). Review of our experience from 203 patients with cerebral vascular lesions

12 July 2018

1 reference

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Hereditary hemorrhagic telangiectasia (Osler's disease)

12 July 2018

1 reference

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Spontaneous hemothorax. Report of 6 cases and review of the literature

12 July 2018

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The liver in hereditary haemorrhagic teleangiectasia: an inborn error of vascular structure with multiple manifestations: a reappraisal

12 July 2018

1 reference

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Disease-associated mutations in conserved residues of ALK-1 kinase domain

12 July 2018

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Mutation analysis of a family with hereditary hemorrhagic telangiectasia associated with hepatic arteriovenous malformation.

26 September 2018

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Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome).

26 September 2018

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Liver transplantation for treatment of intrahepatic Osler's disease: first experiences

26 September 2018

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Contrast echocardiography for detection of pulmonary arteriovenous malformations.

26 September 2018

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Epistaxis in hereditary haemorrhagic telangiectasia.

26 September 2018

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Hepatic involvement in hereditary hemorrhagic telangiectasia: clinical, radiological, and hemodynamic studies of 11 cases

26 September 2018

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12 December 2020

Hereditary hemorrhagic telangiectasis involving the ampulla of Vater presented with recurrent gastrointestinal bleeding

1 reference

12 December 2020

Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: imaging findings

1 reference

12 December 2020

Hereditary hemorrhagic telangiectasia: a disorder in search of the genetics community

1 reference

12 December 2020

A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q

1 reference

12 December 2020

Screening family members of patients with hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

Molecular defects in rare bleeding disorders: hereditary haemorrhagic telangiectasia

1 reference

12 December 2020

Report on the workshop on Hereditary Hemorrhagic Telangiectasia, July 10-11, 1997

1 reference

12 December 2020

Gastrointestinal and hepatic manifestations of hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin

1 reference

12 December 2020

Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT)

1 reference

12 December 2020

Liver disease in patients with hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

[Rendu-Osler-Weber disease. Descriptive study of 17 cases]

1 reference

12 December 2020

Clinical manifestations of hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

Gastrointestinal lesions in hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

Pulmonary arteriovenous malformations: techniques and long-term outcome of embolotherapy

1 reference

12 December 2020

1 reference

12 December 2020

The natural history of epistaxis in hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.40.7.494

1 reference

8 August 2017

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8 August 2017

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