(Q35185797)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801371%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801371%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

arterial hypertension

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801371%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Ardeschir Ghofrani

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801371%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Werner Seeger

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801371%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

Nicole Pfarr

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801371%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Justyna Szamalek-Hoegel

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801371%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Christine Fischer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801371%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Katrin Hinderhofer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801371%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Christian Nagel

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801371%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Nicola Ehlken

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801371%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Henning Tiede

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801371%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Frank Reichenberger

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801371%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Ekkehard Grünig

12

1 reference

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9 February 2020

publication date

29 July 2011

1 reference

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9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801371%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

12

1 reference

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9 February 2020

page(s)

99

1 reference

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https://scigraph.springernature.com/pub.10.1186/1465-9921-12-99

9 February 2020

exact match

0 references

cites work

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

Genetics of pulmonary arterial hypertension

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

Bone morphogenetic protein signalling in heritable versus idiopathic pulmonary hypertension

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

Stress Doppler echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary artery pressure response to exercise and hypoxia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

Standard mutation nomenclature in molecular diagnostics: practical and educational challenges

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

Pulmonary arterial hypertension in France: results from a national registry

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

Downregulation of type II bone morphogenetic protein receptor in hypoxic pulmonary hypertension

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

Genetics of pulmonary arterial hypertension: current and future implications

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

ESEfinder: A web resource to identify exonic splicing enhancers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

Guidelines for the diagnosis and treatment of pulmonary hypertension.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

Genetics and genomics of pulmonary arterial hypertension

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163544

BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension

27 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1465-9921-12-99

Abnormal Pulmonary Artery Pressure Response in Asymptomatic Carriers of Primary Pulmonary Hypertension Gene

21 January 2018

1 reference

12 December 2020

Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension

1 reference

12 December 2020

Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension

1 reference

12 December 2020

Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension

1 reference

12 December 2020

Identifiers

DOI

10.1186/1465-9921-12-99

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801371%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801371%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference