Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia. (Q43146590)

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6 January 2020

case report

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title

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia (English)

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6 January 2020

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5

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6 January 2020

author name string

T G W Letteboer

1

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6 January 2020

J J Mager

2

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6 January 2020

R J Snijder

3

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6 January 2020

B P C Koeleman

4

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6 January 2020

J K Ploos van Amstel

6

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6 January 2020

C J J Westermann

7

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language of work or name

English

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publication date

9 September 2005

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Journal of Medical Genetics

6 January 2020

published in

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volume

43

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6 January 2020

issue

4

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6 January 2020

page(s)

371-377

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

6 January 2020

cites work

1 reference

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

25 May 2018

1 reference

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

25 May 2018

1 reference

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Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia

25 May 2018

1 reference

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

25 May 2018

1 reference

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Visceral manifestations in hereditary haemorrhagic telangiectasia type 2

25 May 2018

1 reference

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Should asymptomatic patients with hereditary haemorrhagic telangiectasia (HHT) be screened for cerebral vascular malformations? Data from 22,061 years of HHT patient life

25 May 2018

1 reference

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

25 May 2018

1 reference

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Rendu-Osler-Weber disease: experience with 56 patients.

25 May 2018

1 reference

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Pulmonary arteriovenous malformation

25 May 2018

1 reference

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Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia

25 May 2018

1 reference

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

25 May 2018

1 reference

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

25 May 2018

1 reference

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

25 May 2018

1 reference

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MR of hereditary hemorrhagic telangiectasia: prevalence and spectrum of cerebrovascular malformations.

25 May 2018

1 reference

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

25 May 2018

1 reference

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

25 May 2018

1 reference

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Referrals of patients to colorectal cancer genetics services in south-east Scotland.

25 May 2018

1 reference

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Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563220

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

15 August 2018

1 reference

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

15 August 2018

1 reference

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Epistaxis in hereditary haemorrhagic telangiectasia.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563220

Hereditary hemorrhagic telangiectasia

15 August 2018

1 reference

12 December 2020

Screening family members of patients with hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

Unusual complications after embolization of a pulmonary arteriovenous malformation

1 reference

12 December 2020

Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT)

1 reference

12 December 2020

Liver disease in patients with hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

Pulmonary arteriovenous malformations: cerebral ischemia and neurologic manifestations

1 reference

12 December 2020

The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the Afro-Caribbean population of the Netherlands Antilles: a family screening

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2005.035451

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16155196%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16155196%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

PubMed publication ID

16155196

1 reference