(Q42166170)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15517393%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients (English)

1 reference

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hereditary hemorrhagic telangiectasia

4 January 2020

main subject

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author

Dick Lindhout

7

1 reference

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4 January 2020

author name string

T G W Letteboer

1

1 reference

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4 January 2020

R A Zewald

2

1 reference

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4 January 2020

E J Kamping

3

1 reference

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4 January 2020

G de Haas

4

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4 January 2020

J J Mager

5

1 reference

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4 January 2020

R J Snijder

6

1 reference

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4 January 2020

F A M Hennekam

8

1 reference

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4 January 2020

C J J Westermann

9

1 reference

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4 January 2020

J K Ploos van Amstel

10

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4 January 2020

publication date

23 October 2004

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4 January 2020

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4 January 2020

volume

116

1 reference

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4 January 2020

issue

1-2

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4 January 2020

page(s)

8-16

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https://scigraph.springernature.com/pub.10.1007/s00439-004-1196-5

4 January 2020

exact match

0 references

cites work

Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-004-1196-5

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutational analysis of activin/transforming growth factor-beta type I and type II receptor kinases in human pituitary tumors

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles

1 reference

12 December 2020

Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries

1 reference

12 December 2020

Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia

1 reference

12 December 2020

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

1 reference

12 December 2020

Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.

1 reference

12 December 2020

Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Epistaxis in hereditary haemorrhagic telangiectasia.

1 reference

12 December 2020

Screening family members of patients with hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00439-004-1196-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15517393%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

4 January 2020

1050086487

0 references

1 reference