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List of works by Mélanie Eyries

A novel channelopathy in pulmonary arterial hypertension

scientific article published on July 2013

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

scientific article

Characteristics of pulmonary arterial hypertension in affected carriers of a mutation located in the cytoplasmic tail of bone morphogenetic protein receptor type 2.

scientific article published in May 2015

Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study.

scientific article published on 10 January 2017

EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.

scientific article published in December 2013

Familial pulmonary arterial hypertension by KDR heterozygous loss of function

scientific article published on 03 April 2020

Genetic counselling in a national referral centre for pulmonary hypertension.

scientific article published on 23 December 2015

Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension

scientific article published on 17 March 2013

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

scientific article published on 12 April 2018

Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension

scientific article published on 01 October 2018

Mechanisms of exertional dyspnoea in pulmonary veno-occlusive disease with EIF2AK4 mutations

scientific article published on 19 August 2014

Phenotype and outcome of PAH patients carrying a TBX4 mutation

scientific article published on 20 February 2020

Pulmonary hypertension in patients with neurofibromatosis type I.

scientific article published in May 2011

Screening for pulmonary arterial hypertension in adults carrying a <i>BMPR2</i> mutation

scientific article published on 30 December 2020

Small platelet microparticle levels are increased in pulmonary arterial hypertension.

scientific article

Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases

scientific article published on 14 March 2019