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First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Prapa M, Lago-Docampo M, Swietlik EM, Montani D, Eyries M, Humbert M, Welch CL, Chung WK, Berger RMF, Bogaard HJ, Danhaive O, Escribano-Subías P, Gall H, Girerd B, Hernandez-Gonzalez I, Holden S, Hunt D, Jansen SMA, Kerstjens-Frederikse W, Kiely DG, Lapunzina P, McDermott J, Moledina S, Pepke-Zaba J, Polwarth GJ, Schotte G, Tenorio-Castaño J, Thompson AAR, Wharton J, Wort SJ, Megy K, Mapeta R, Treacy CM, Martin JM, Li W, Swift AJ, Upton PD, Morrell NW, Gräf S, Valverde D; NIHR BioResource for Translational Research–Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; PAH Biobank Enrolling Centers’ Investigators. Prapa M, et al. Among authors: eyries m. Am J Respir Crit Care Med. 2022 Dec 15;206(12):1522-1533. doi: 10.1164/rccm.202203-0485OC. Am J Respir Crit Care Med. 2022. PMID: 35852389 Free PMC article.
Pulmonary hypertension in patients with neurofibromatosis type I.
Montani D, Coulet F, Girerd B, Eyries M, Bergot E, Mal H, Biondi G, Dromer C, Hugues T, Marquette C, O'Connell C, O'Callaghan DS, Savale L, Jaïs X, Dorfmüller P, Begueret H, Bertoletti L, Sitbon O, Bellanné-Chantelot C, Zalcman G, Simonneau G, Humbert M, Soubrier F. Montani D, et al. Among authors: eyries m. Medicine (Baltimore). 2011 May;90(3):201-211. doi: 10.1097/MD.0b013e31821be2b7. Medicine (Baltimore). 2011. PMID: 21512413 Free article.
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.
Germain M, Eyries M, Montani D, Poirier O, Girerd B, Dorfmüller P, Coulet F, Nadaud S, Maugenre S, Guignabert C, Carpentier W, Vonk-Noordegraaf A, Lévy M, Chaouat A, Lambert JC, Bertrand M, Dupuy AM, Letenneur L, Lathrop M, Amouyel P, de Ravel TJ, Delcroix M, Austin ED, Robbins IM, Hemnes AR, Loyd JE, Berman-Rosenzweig E, Barst RJ, Chung WK, Simonneau G, Trégouët DA, Humbert M, Soubrier F. Germain M, et al. Among authors: eyries m. Nat Genet. 2013 May;45(5):518-21. doi: 10.1038/ng.2581. Epub 2013 Mar 17. Nat Genet. 2013. PMID: 23502781 Free PMC article.
A novel channelopathy in pulmonary arterial hypertension.
Ma L, Roman-Campos D, Austin ED, Eyries M, Sampson KS, Soubrier F, Germain M, Trégouët DA, Borczuk A, Rosenzweig EB, Girerd B, Montani D, Humbert M, Loyd JE, Kass RS, Chung WK. Ma L, et al. Among authors: eyries m. N Engl J Med. 2013 Jul 25;369(4):351-361. doi: 10.1056/NEJMoa1211097. N Engl J Med. 2013. PMID: 23883380 Free PMC article.
Mechanisms of exertional dyspnoea in pulmonary veno-occlusive disease with EIF2AK4 mutations.
Laveneziana P, Montani D, Dorfmüller P, Girerd B, Sitbon O, Jaïs X, Savale L, Eyries M, Soubrier F, Similowski T, Simonneau G, Humbert M, Garcia G. Laveneziana P, et al. Among authors: eyries m. Eur Respir J. 2014 Oct;44(4):1069-72. doi: 10.1183/09031936.00088914. Epub 2014 Aug 19. Eur Respir J. 2014. PMID: 25142489 Free article. No abstract available.
Characteristics of pulmonary arterial hypertension in affected carriers of a mutation located in the cytoplasmic tail of bone morphogenetic protein receptor type 2.
Girerd B, Coulet F, Jaïs X, Eyries M, Van Der Bruggen C, De Man F, Houweling A, Dorfmüller P, Savale L, Sitbon O, Vonk-Noordegraaf A, Soubrier F, Simonneau G, Humbert M, Montani D. Girerd B, et al. Among authors: eyries m. Chest. 2015 May;147(5):1385-1394. doi: 10.1378/chest.14-0880. Chest. 2015. PMID: 25429696
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, Chung WK, Benjamin N, Elliott CG, Eyries M, Fischer C, Gräf S, Hinderhofer K, Humbert M, Keiles SB, Loyd JE, Morrell NW, Newman JH, Soubrier F, Trembath RC, Viales RR, Grünig E. Machado RD, et al. Among authors: eyries m. Hum Mutat. 2015 Dec;36(12):1113-27. doi: 10.1002/humu.22904. Epub 2015 Oct 12. Hum Mutat. 2015. PMID: 26387786 Free PMC article. Review.
87 results