(Q54626589)

English

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

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Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/21158752

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/21158752

hereditary hemorrhagic telangiectasia

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author name string

J McDonald

1

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/21158752

K Damjanovich

2

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Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/21158752

A Millson

3

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/21158752

W Wooderchak

4

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/21158752

J M Chibuk

5

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/21158752

D A Stevenson

6

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/21158752

F Gedge

7

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/21158752

P Bayrak-Toydemir

8

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Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/21158752

publication date

16 December 2010

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Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/21158752

Clinical Genetics

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Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/21158752

79

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Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/21158752

4

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Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/21158752

335-344

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Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/21158752

Hereditary haemorrhagic telangiectasia: a clinical and scientific review

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

BMPR2mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01596.X

21 January 2018

Identifiers

10.1111/J.1399-0004.2010.01596.X

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/21158752

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/21158752

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