(Q35118881)

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Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years

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scholarly article

1 reference

Europe PubMed Central

6 August 2017

Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years (English)

1 reference

Europe PubMed Central

6 August 2017

heritable pulmonary arterial hypertension

1 reference

based on heuristic

inferred from title

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24621962%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Benjamin Egenlauf

7

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9 June 2020

author name string

Katrin Hinderhofer

1

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9 June 2020

Christine Fischer

2

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9 June 2020

Nicole Pfarr

3

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9 June 2020

Justyna Szamalek-Hoegel

4

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9 June 2020

Christian Nagel

6

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9 June 2020

Nicola Ehlken

8

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9 June 2020

Ekkehard Grünig

9

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9 June 2020

language of work or name

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publication date

12 March 2014

1 reference

Europe PubMed Central

6 August 2017

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Europe PubMed Central

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9 June 2020

9

1 reference

Europe PubMed Central

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9 June 2020

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24621962%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

e91374

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24621962%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

copyright license

Creative Commons Attribution 4.0 International

12 March 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Heritable forms of pulmonary arterial hypertension

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951367

9 July 2018

Retroelements in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951367

9 July 2018

Cardiopulmonary exercise testing reveals onset of disease and response to treatment in a case of heritable pulmonary arterial hypertension

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951367

9 July 2018

Non-invasive diagnosis of pulmonary hypertension: ESC/ERS Guidelines with Updated Commentary of the Cologne Consensus Conference 2011.

1 reference

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9 July 2018

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951367

9 July 2018

Predicting survival in pulmonary arterial hypertension: insights from the Registry to Evaluate Early and Long-Term Pulmonary Arterial Hypertension Disease Management (REVEAL).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951367

9 July 2018

Guidelines for the diagnosis and treatment of pulmonary hypertension: the Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS), endorsed by the In

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951367

9 July 2018

Genetics and genomics of pulmonary arterial hypertension

1 reference

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9 July 2018

Mobile elements create structural variation: analysis of a complete human genome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951367

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951367

9 July 2018

A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951367

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951367

9 July 2018

An efficient method for the rapid establishment of Epstein-Barr virus immortalization of human B lymphocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951367

9 July 2018

The birth of an alternatively spliced exon: 3' splice-site selection in Alu exons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951367

9 July 2018

Alu repeats and human genomic diversity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951367

9 July 2018

Frequency of recent retrotransposition events in the human factor IX gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951367

9 July 2018

Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951367

9 July 2018

Alu repeats and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951367

9 July 2018

Cyclosporin A promotes spontaneous outgrowth in vitro of Epstein–Barr virus-induced B-cell lines

1 reference

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9 July 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

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9 July 2018

A de novo Alu insertion results in neurofibromatosis type 1

1 reference

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9 July 2018

Elderly patients diagnosed with idiopathic pulmonary arterial hypertension: results from the COMPERA registry.

1 reference

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21 January 2018

Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0091374

21 January 2018

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0091374

21 January 2018

Assessment of right atrial pressure with 2-dimensional and Doppler echocardiography: a simultaneous catheterization and echocardiographic study.

1 reference

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21 January 2018

The 5' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs.

1 reference

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21 January 2018

Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A.

1 reference

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21 January 2018

Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers.

1 reference

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21 January 2018

Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0091374

21 January 2018

Familial primary pulmonary hypertension: clinical patterns

1 reference

https://pubmed.ncbi.nlm.nih.gov/24621962

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension

1 reference

https://pubmed.ncbi.nlm.nih.gov/24621962

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24621962

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage Analysis in a Large Family With Primary Pulmonary Hypertension

1 reference

https://pubmed.ncbi.nlm.nih.gov/24621962

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the TGF-beta type 1 receptor, ALK1, in combined primary pulmonary hypertension and hereditary haemorrhagic telangiectasia, implies pathway specificity

1 reference

https://pubmed.ncbi.nlm.nih.gov/24621962

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/24621962

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Derzeitige Empfehlungen zur Diagnostik und Therapie der pulmonalen Hypertonie

1 reference

https://pubmed.ncbi.nlm.nih.gov/24621962

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0091374

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24621962%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

2014PLoSO...991374H

0 references

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24621962%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24621962%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

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