(Q48323777)

10 February 2018

title

Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. (English)

1 reference

10 February 2018

hereditary hemorrhagic telangiectasia

main subject

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Miwako Dakeishi

1

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10 February 2018

Takanobu Shioya

2

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10 February 2018

Yasuhiko Wada

3

1 reference

10 February 2018

Tsutomu Shindo

4

1 reference

10 February 2018

Kousei Otaka

5

1 reference

10 February 2018

Motomu Manabe

6

1 reference

10 February 2018

Jun-Ichi Nozaki

7

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10 February 2018

Sumiko Inoue

8

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10 February 2018

Akio Koizumi

9

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10 February 2018

publication date

1 February 2002

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10 February 2018

published in

Human Mutation

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10 February 2018

volume

19

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10 February 2018

page(s)

140-148

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10 February 2018

issue

2

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10 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

Osler-Weber-Rendu disease and pulmonary arteriovenous fistulas. Deterioration and embolotherapy during pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

Endoglin modulates cellular responses to TGF-beta 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

Hereditary haemorrhagic telangiectasia: a clinical analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

7 January 2021

Liver disease in patients with hereditary hemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

7 January 2021

Hereditary hemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

7 January 2021

Genetic cholesteryl ester transfer protein deficiency is extremely frequent in the Omagari area of Japan. Marked hyperalphalipoproteinemia caused by CETP gene mutation is not associated with longevity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

7 January 2021

Pulmonary arteriovenous malformations: cerebral ischemia and neurologic manifestations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

7 January 2021

Hereditary hemorrhagic telangiectasia (HHT) in Akita Prefecture, Japan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

7 January 2021

Pulmonary arteriovenous fistulas in hereditary hemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10026

7 January 2021

Identifiers

DOI

10.1002/HUMU.10026

1 reference

10 February 2018

PubMed ID

11793473

1 reference

10 February 2018