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591 results

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Page 1
Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension.
Ulrich A, Wharton J, Thayer TE, Swietlik EM, Assad TR, Desai AA, Gräf S, Harbaum L, Humbert M, Morrell NW, Nichols WC, Soubrier F, Southgate L, Trégouët DA, Trembath RC, Brittain EL, Wilkins MR, Prokopenko I, Rhodes CJ; NIHR BioResource – Rare Diseases Consortium; UK PAH Cohort Study Consortium; US PAH Biobank Consortium. Ulrich A, et al. Among authors: graf s. Eur Respir J. 2020 Feb 12;55(2):1901486. doi: 10.1183/13993003.01486-2019. Print 2020 Feb. Eur Respir J. 2020. PMID: 31744833 Free PMC article.
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: graf s. 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.
BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis.
Evans JD, Girerd B, Montani D, Wang XJ, Galiè N, Austin ED, Elliott G, Asano K, Grünig E, Yan Y, Jing ZC, Manes A, Palazzini M, Wheeler LA, Nakayama I, Satoh T, Eichstaedt C, Hinderhofer K, Wolf M, Rosenzweig EB, Chung WK, Soubrier F, Simonneau G, Sitbon O, Gräf S, Kaptoge S, Di Angelantonio E, Humbert M, Morrell NW. Evans JD, et al. Among authors: graf s. Lancet Respir Med. 2016 Feb;4(2):129-37. doi: 10.1016/S2213-2600(15)00544-5. Epub 2016 Jan 19. Lancet Respir Med. 2016. PMID: 26795434 Free PMC article.
Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension.
Rhodes CJ, Ghataorhe P, Wharton J, Rue-Albrecht KC, Hadinnapola C, Watson G, Bleda M, Haimel M, Coghlan G, Corris PA, Howard LS, Kiely DG, Peacock AJ, Pepke-Zaba J, Toshner MR, Wort SJ, Gibbs JS, Lawrie A, Gräf S, Morrell NW, Wilkins MR. Rhodes CJ, et al. Among authors: graf s. Circulation. 2017 Jan 31;135(5):460-475. doi: 10.1161/CIRCULATIONAHA.116.024602. Epub 2016 Nov 21. Circulation. 2017. PMID: 27881557 Free PMC article.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A; UK Inherited Retinal Disease Consortium; Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V; NIHR Bioresource - Rare Diseases Consortium; Moore AT, Raymond FL, Matter K, Balda MS, Webster AR. Arno G, et al. Am J Hum Genet. 2017 Feb 2;100(2):334-342. doi: 10.1016/j.ajhg.2016.12.014. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132693 Free PMC article.
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.
Hadinnapola C, Bleda M, Haimel M, Screaton N, Swift A, Dorfmüller P, Preston SD, Southwood M, Hernandez-Sanchez J, Martin J, Treacy C, Yates K, Bogaard H, Church C, Coghlan G, Condliffe R, Corris PA, Gibbs S, Girerd B, Holden S, Humbert M, Kiely DG, Lawrie A, Machado R, MacKenzie Ross R, Moledina S, Montani D, Newnham M, Peacock A, Pepke-Zaba J, Rayner-Matthews P, Shamardina O, Soubrier F, Southgate L, Suntharalingam J, Toshner M, Trembath R, Vonk Noordegraaf A, Wilkins MR, Wort SJ, Wharton J; NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH; Gräf S, Morrell NW. Hadinnapola C, et al. Among authors: graf s. Circulation. 2017 Nov 21;136(21):2022-2033. doi: 10.1161/CIRCULATIONAHA.117.028351. Epub 2017 Sep 28. Circulation. 2017. PMID: 28972005 Free PMC article.
591 results