(Q43169543)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16690726%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations (English)

1 reference

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21 January 2020

2

1 reference

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21 January 2020

Brenda L. Gallie

9

1 reference

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21 January 2020

author name string

N L Prigoda

1

1 reference

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21 January 2020

S A Abdalla

3

1 reference

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21 January 2020

B Piovesan

4

1 reference

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21 January 2020

D Rushlow

5

1 reference

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21 January 2020

K Vandezande

6

1 reference

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21 January 2020

E Zhang

7

1 reference

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21 January 2020

H Ozcelik

8

1 reference

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21 January 2020

M Letarte

10

1 reference

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21 January 2020

language of work or name

English

0 references

publication date

11 May 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16690726%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

21 January 2020

published in

1 reference

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21 January 2020

volume

43

1 reference

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21 January 2020

issue

9

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21 January 2020

page(s)

722-728

1 reference

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SMAD4 mutations found in unselected HHT patients.

21 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

SIFT: Predicting amino acid changes that affect protein function

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

Accounting for human polymorphisms predicted to affect protein function

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

Predicting deleterious amino acid substitutions

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

Genotype-phenotype relationship 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=2564570

ALK-1 mutations in liver transplanted patients with hereditary hemorrhagic 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=2564570

Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic 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=2564570

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic 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=2564570

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=2564570

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564570

Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin

15 August 2018

1 reference

12 December 2020

Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

1 reference

12 December 2020

Hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2006.042606

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16690726%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16690726%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference