(Q54482657)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22991266%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22991266%20AND%20SRC:MED&resulttype=core&format=json

hereditary hemorrhagic telangiectasia

13 February 2020

main subject

0 references

arteriovenous malformation

1 reference

1

1 reference

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13 February 2020

author name string

Marie E Faughnan

2

1 reference

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13 February 2020

Timo Krings

3

1 reference

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13 February 2020

Murali Chakinala

4

1 reference

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13 February 2020

James R Gossage

5

1 reference

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13 February 2020

William L Young

6

1 reference

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13 February 2020

Helen Kim

7

1 reference

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13 February 2020

Tony Pourmohamad

8

1 reference

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13 February 2020

Katharine J Henderson

9

1 reference

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13 February 2020

Stacy D Schrum

10

1 reference

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13 February 2020

Melissa James

11

1 reference

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13 February 2020

Nancy Quinnine

12

1 reference

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13 February 2020

Aditya Bharatha

13

1 reference

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13 February 2020

Karel G Terbrugge

14

1 reference

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13 February 2020

Robert I White

15

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13 February 2020

language of work or name

English

0 references

publication date

18 September 2012

1 reference

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American Journal of Medical Genetics

13 February 2020

published in

1 reference

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13 February 2020

volume

158A

1 reference

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13 February 2020

issue

11

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13 February 2020

page(s)

2829-2834

1 reference

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Brain arteriovenous malformation multiplicity predicts the diagnosis of hereditary hemorrhagic telangiectasia: quantitative assessment

13 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3610331

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3610331

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

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3610331

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

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3610331

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

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3610331

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

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3610331

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

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3610331

Exceptional multiplicity of cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome).

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3610331

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

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3610331

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3610331

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3610331

Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3610331

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3610331

Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia

13 August 2018

1 reference

12 December 2020

A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34

1 reference

12 December 2020

A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3

1 reference

12 December 2020

A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q

1 reference

12 December 2020

Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.35622

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22991266%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22991266%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

PubMed publication ID

22991266

1 reference