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Year Number of Results
2009 1
2010 1
2011 3
2012 2
2013 3
2014 1
2015 1
2020 4
2021 1
2022 1
2024 0

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18 results

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Page 1
Genetics and genomics of pulmonary arterial hypertension.
Soubrier F, Chung WK, Machado R, Grünig E, Aldred M, Geraci M, Loyd JE, Elliott CG, Trembath RC, Newman JH, Humbert M. Soubrier F, et al. J Am Coll Cardiol. 2013 Dec 24;62(25 Suppl):D13-21. doi: 10.1016/j.jacc.2013.10.035. J Am Coll Cardiol. 2013. PMID: 24355637 Free article. Review.
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Zhu N, Swietlik EM, Welch CL, Pauciulo MW, Hagen JJ, Zhou X, Guo Y, Karten J, Pandya D, Tilly T, Lutz KA, Martin JM, Treacy CM, Rosenzweig EB, Krishnan U, Coleman AW, Gonzaga-Jauregui C, Lawrie A, Trembath RC, Wilkins MR; Regeneron Genetics Center; PAH Biobank Enrolling Centers’ Investigators; NIHR BioResource for Translational Research - Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; Morrell NW, Shen Y, Gräf S, Nichols WC, Chung WK. Zhu N, et al. Genome Med. 2021 May 10;13(1):80. doi: 10.1186/s13073-021-00891-1. Genome Med. 2021. PMID: 33971972 Free PMC article.
Genetics and genomics of pulmonary arterial hypertension.
Machado RD, Eickelberg O, Elliott CG, Geraci MW, Hanaoka M, Loyd JE, Newman JH, Phillips JA 3rd, Soubrier F, Trembath RC, Chung WK. Machado RD, et al. J Am Coll Cardiol. 2009 Jun 30;54(1 Suppl):S32-S42. doi: 10.1016/j.jacc.2009.04.015. J Am Coll Cardiol. 2009. PMID: 19555857 Free PMC article. Review.
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. 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.
Germline FH mutations presenting with pheochromocytoma.
Clark GR, Sciacovelli M, Gaude E, Walsh DM, Kirby G, Simpson MA, Trembath RC, Berg JN, Woodward ER, Kinning E, Morrison PJ, Frezza C, Maher ER. Clark GR, et al. J Clin Endocrinol Metab. 2014 Oct;99(10):E2046-50. doi: 10.1210/jc.2014-1659. Epub 2014 Jul 8. J Clin Endocrinol Metab. 2014. PMID: 25004247
Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.
Hodgson J, Swietlik EM, Salmon RM, Hadinnapola C, Nikolic I, Wharton J, Guo J, Liley J, Haimel M, Bleda M, Southgate L, Machado RD, Martin JM, Treacy CM, Yates K, Daugherty LC, Shamardina O, Whitehorn D, Holden S, Bogaard HJ, Church C, Coghlan G, Condliffe R, Corris PA, Danesino C, Eyries M, Gall H, Ghio S, Ghofrani HA, Gibbs JSR, Girerd B, Houweling AC, Howard L, Humbert M, Kiely DG, Kovacs G, Lawrie A, MacKenzie Ross RV, Moledina S, Montani D, Olschewski A, Olschewski H, Ouwehand WH, Peacock AJ, Pepke-Zaba J, Prokopenko I, Rhodes CJ, Scelsi L, Seeger W, Soubrier F, Suntharalingam J, Toshner MR, Trembath RC, Vonk Noordegraaf A, Wort SJ, Wilkins MR, Yu PB, Li W, Gräf S, Upton PD, Morrell NW. Hodgson J, et al. Am J Respir Crit Care Med. 2020 Mar 1;201(5):575-585. doi: 10.1164/rccm.201906-1141OC. Am J Respir Crit Care Med. 2020. PMID: 31661308 Free PMC article.
Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension.
Ulrich A, Otero-Núñez P, Wharton J, Swietlik EM, Gräf S, Morrell NW, Wang D, Lawrie A, Wilkins MR, Prokopenko I, Rhodes CJ, Consortium OBOTNBD, Consortium UPCS. Ulrich A, et al. Genes (Basel). 2020 Oct 22;11(11):1247. doi: 10.3390/genes11111247. Genes (Basel). 2020. PMID: 33105808 Free PMC article.
A pilot study to examine association of BMI with functional class and 6 min walk distance in idiopathic and heritable PAH: Possible association with estrogen metabolism.
MacLean MR, Pandya D, Swietlik EM, Denver N, Mair K, Morrell NW, Gräf S; National Cohort Study for Idiopathic and Heritable Pulmonary Arterial Hypertension Consortium. MacLean MR, et al. Pulm Circ. 2022 Jul 1;12(3):e12139. doi: 10.1002/pul2.12139. eCollection 2022 Jul. Pulm Circ. 2022. PMID: 36186719 Free PMC article.
Impaired natural killer cell phenotype and function in idiopathic and heritable pulmonary arterial hypertension.
Ormiston ML, Chang C, Long LL, Soon E, Jones D, Machado R, Treacy C, Toshner MR, Campbell K, Riding A, Southwood M, Pepke-Zaba J, Exley A, Trembath RC, Colucci F, Wills M, Trowsdale J, Morrell NW. Ormiston ML, et al. Circulation. 2012 Aug 28;126(9):1099-109. doi: 10.1161/CIRCULATIONAHA.112.110619. Epub 2012 Jul 25. Circulation. 2012. PMID: 22832786 Free article.
18 results