(Q43089013)

13 November 2017

title

Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family (English)

1 reference

hereditary hemorrhagic telangiectasia

13 November 2017

main subject

0 references

author name string

W Wooderchak

1

1 reference

13 November 2017

F Gedge

2

1 reference

13 November 2017

M McDonald

3

1 reference

13 November 2017

P Krautscheid

4

1 reference

13 November 2017

X Wang

5

1 reference

13 November 2017

J Malkiewicz

6

1 reference

13 November 2017

C J Bukjiok

7

1 reference

13 November 2017

T Lewis

8

1 reference

13 November 2017

P Bayrak-Toydemir

9

1 reference

13 November 2017

publication date

1 November 2010

1 reference

13 November 2017

1 reference

13 November 2017

volume

78

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13 November 2017

issue

5

1 reference

13 November 2017

page(s)

484-489

1 reference

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

13 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01418.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01418.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01418.X

Pulmonary arteriovenous malformation in the neonate

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01418.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01418.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01418.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01418.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01418.X

Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01418.X

Human genomic deletions mediated by recombination between Alu elements.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01418.X

Alu repeats and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01418.X

Cell cycle and genetic requirements of two pathways of nonhomologous end-joining repair of double-strand breaks in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01418.X

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01418.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01418.X

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/10.1111%2FJ.1399-0004.2010.01418.X

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/10.1111%2FJ.1399-0004.2010.01418.X

10.1111/J.1399-0004.2010.01418.X

21 January 2018

Identifiers

DOI

1 reference

release_4mozbt3libcxdctdiahfr2lk3m

13 November 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4mozbt3libcxdctdiahfr2lk3m

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference