Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred (Q34006402)

30 July 2017

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title

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

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hereditary hemorrhagic telangiectasia

30 July 2017

main subject

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author

Douglas A Marchuk

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ORCID Public Data File 2021

author name string

McDonald JE

1

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30 July 2017

Miller FJ

2

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30 July 2017

Hallam SE

3

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30 July 2017

Nelson L

4

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30 July 2017

Marchuk DA

5

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30 July 2017

Ward KJ

6

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30 July 2017

publication date

1 August 2000

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American Journal of Medical Genetics Part A

30 July 2017

published in

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30 July 2017

volume

93

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30 July 2017

issue

4

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30 July 2017

page(s)

320-327

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

30 July 2017

cites work

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Cerebral arteriovenous malformations in The Netherlands Antilles. High prevalence of hereditary hemorrhagic telangiectasia-related single and multiple cerebral arteriovenous malformations.

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

21 January 2018

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

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

21 January 2018

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Hereditary haemorrhagic telangiectasia: a clinical analysis

21 January 2018

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Genetic heterogeneity in hereditary haemorrhagic telangiectasia

21 January 2018

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

21 January 2018

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Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia

21 January 2018

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Pulmonary arteriovenous malformations: how do we diagnose them and why is it important to do so?

21 January 2018

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Pulmonary arteriovenous malformations: diagnosis and transcatheter embolotherapy

21 January 2018

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10.1002/1096-8628(20000814)93:4<320::AID-AJMG12>3.0.CO;2-R

21 January 2018

Identifiers

DOI

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30 July 2017

1 reference