(Q36927105)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16613914%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

SMAD4 mutations found in unselected HHT patients (English)

1 reference

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19 January 2020

8

1 reference

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19 January 2020

author name string

C J Gallione

1

1 reference

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19 January 2020

J A Richards

2

1 reference

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19 January 2020

T G W Letteboer

3

1 reference

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19 January 2020

D Rushlow

4

1 reference

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19 January 2020

N L Prigoda

5

1 reference

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19 January 2020

T P Leedom

6

1 reference

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19 January 2020

A Ganguly

7

1 reference

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19 January 2020

J K Ploos van Amstel

9

1 reference

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19 January 2020

C J J Westermann

10

1 reference

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19 January 2020

R E Pyeritz

11

1 reference

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19 January 2020

D A Marchuk

12

1 reference

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19 January 2020

language of work or name

English

0 references

publication date

13 April 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16613914%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

19 January 2020

published in

1 reference

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19 January 2020

volume

43

1 reference

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19 January 2020

issue

10

1 reference

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19 January 2020

page(s)

793-797

1 reference

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

19 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=2563178

TGF-beta receptor function in the endothelium.

29 September 2017

1 reference

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Genetic conditions associated with intestinal juvenile polyps

29 September 2017

1 reference

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The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations

29 September 2017

1 reference

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New insights into TGF-beta-Smad signalling

29 September 2017

1 reference

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century.

29 September 2017

1 reference

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Analysis of genetic and phenotypic heterogeneity in juvenile polyposis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

The human genome project and the future of diagnostics, treatment, and prevention

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

Mutations in the SMAD4/DPC4 gene in juvenile polyposis

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

Juvenile polyposis--a precancerous condition.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

Molecular Classification of Patients With Unexplained Hamartomatous and Hyperplastic Polyposis

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563178

Vascular abnormalities in the fingers of patients affected with hereditary hemorrhagic telangiectasia (HHT) as assessed by color doppler sonography

4 December 2018

1 reference

12 December 2020

Screening for colorectal cancer

1 reference

12 December 2020

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers

1 reference

12 December 2020

Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis

1 reference

12 December 2020

Juvenile polyposis and gastrointestinal carcinoma. A study of a kindred

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2006.041517

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16613914%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16613914%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

16613914

1 reference