Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

BioResource-Rare Dis Consortium; UK Natl Cohort Study Idiopathic He; BRIDGE-BPD Consortium; Yvonne Henskens; Johan Heemskerk; Minka Vries

doi:10.1161/CIRCULATIONAHA.117.028351

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

BioResource-Rare Dis Consortium, UK Natl Cohort Study Idiopathic He, BRIDGE-BPD Consortium, Yvonne Henskens, Johan Heemskerk, Minka Vries

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	2022-2033
Number of pages	12
Journal	Circulation
Volume	136
Issue number	21
DOIs	https://doi.org/10.1161/CIRCULATIONAHA.117.028351
Publication status	Published - 21 Nov 2017

Keywords

genetics
hypertension, pulmonary
mutation
prognosis
pulmonary veno-occlusive disease
VENOOCCLUSIVE-DISEASE
CAPILLARY HEMANGIOMATOSIS
DIFFUSION CAPACITY
BMPR2
REGISTRY
CT

Access to Document

10.1161/CIRCULATIONAHA.117.028351

Cite this

BioResource-Rare Dis Consortium, UK Natl Cohort Study Idiopathic He, BRIDGE-BPD Consortium, Henskens, Y., Heemskerk, J., & Vries, M. (2017). Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. Circulation, 136(21), 2022-2033. https://doi.org/10.1161/CIRCULATIONAHA.117.028351

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title = "Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension",

keywords = "genetics, hypertension, pulmonary, mutation, prognosis, pulmonary veno-occlusive disease, VENOOCCLUSIVE-DISEASE, CAPILLARY HEMANGIOMATOSIS, DIFFUSION CAPACITY, BMPR2, REGISTRY, CT",

author = "Charaka Hadinnapola and Marta Bleda and Matthias Haimel and Nicholas Screaton and Andrew Swift and Peter Dorfmuller and Preston, {Stephen D.} and Mark Southwood and Jules Hernandez-Sanchez and Jennifer Martin and Carmen Treacy and Katherine Yates and Harm Bogaard and Colin Church and Gerry Coghlan and Robin Condliffe and Corris, {Paul A.} and Simon Gibbs and Barbara Girerd and Simon Holden and Marc Humbert and Kiely, {David G.} and Allan Lawrie and Rajiv Machado and Ross, {Robert MacKenzie} and Shahin Moledina and David Montani and Michael Newnham and Andrew Peacock and Joanna Pepke-Zaba and Paula Rayner-Matthews and Olga Shamardina and Florent Soubrier and Laura Southgate and Jay Suntharalingam and Mark Toshner and Richard Trembath and Noordegraaf, {Anton Vonk} and Wilkins, {Martin R.} and Wort, {Stephen J.} and John Wharton and Stefan Graf and {BioResource-Rare Dis Consortium} and {UK Natl Cohort Study Idiopathic He} and {BRIDGE-BPD Consortium} and Yvonne Henskens and Johan Heemskerk and Minka Vries and Morrell, {Nicholas W.}",

year = "2017",

month = nov,

day = "21",

doi = "10.1161/CIRCULATIONAHA.117.028351",

language = "English",

volume = "136",

pages = "2022--2033",

journal = "Circulation",

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publisher = "LIPPINCOTT WILLIAMS & WILKINS",

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BioResource-Rare Dis Consortium, UK Natl Cohort Study Idiopathic He, BRIDGE-BPD Consortium, Henskens, Y , Heemskerk, J & Vries, M 2017, 'Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension', Circulation, vol. 136, no. 21, pp. 2022-2033. https://doi.org/10.1161/CIRCULATIONAHA.117.028351

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. / BioResource-Rare Dis Consortium; UK Natl Cohort Study Idiopathic He; BRIDGE-BPD Consortium ; Henskens, Yvonne ; Heemskerk, Johan; Vries, Minka.

In: Circulation, Vol. 136, No. 21, 21.11.2017, p. 2022-2033.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

AU - Hadinnapola, Charaka

AU - Bleda, Marta

AU - Haimel, Matthias

AU - Screaton, Nicholas

AU - Swift, Andrew

AU - Dorfmuller, Peter

AU - Preston, Stephen D.

AU - Southwood, Mark

AU - Hernandez-Sanchez, Jules

AU - Martin, Jennifer

AU - Treacy, Carmen

AU - Yates, Katherine

AU - Bogaard, Harm

AU - Church, Colin

AU - Coghlan, Gerry

AU - Condliffe, Robin

AU - Corris, Paul A.

AU - Gibbs, Simon

AU - Girerd, Barbara

AU - Holden, Simon

AU - Humbert, Marc

AU - Kiely, David G.

AU - Lawrie, Allan

AU - Machado, Rajiv

AU - Ross, Robert MacKenzie

AU - Moledina, Shahin

AU - Montani, David

AU - Newnham, Michael

AU - Peacock, Andrew

AU - Pepke-Zaba, Joanna

AU - Rayner-Matthews, Paula

AU - Shamardina, Olga

AU - Soubrier, Florent

AU - Southgate, Laura

AU - Suntharalingam, Jay

AU - Toshner, Mark

AU - Trembath, Richard

AU - Noordegraaf, Anton Vonk

AU - Wilkins, Martin R.

AU - Wort, Stephen J.

AU - Wharton, John

AU - Graf, Stefan

AU - BioResource-Rare Dis Consortium

AU - UK Natl Cohort Study Idiopathic He

AU - BRIDGE-BPD Consortium

AU - Henskens, Yvonne

AU - Heemskerk, Johan

AU - Vries, Minka

AU - Morrell, Nicholas W.

PY - 2017/11/21

Y1 - 2017/11/21

KW - genetics

KW - hypertension, pulmonary

KW - mutation

KW - prognosis

KW - pulmonary veno-occlusive disease

KW - VENOOCCLUSIVE-DISEASE

KW - CAPILLARY HEMANGIOMATOSIS

KW - DIFFUSION CAPACITY

KW - BMPR2

KW - REGISTRY

KW - CT

U2 - 10.1161/CIRCULATIONAHA.117.028351

DO - 10.1161/CIRCULATIONAHA.117.028351

M3 - Article

VL - 136

SP - 2022

EP - 2033

JO - Circulation

JF - Circulation

SN - 0009-7322

IS - 21

ER -