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Page 1
Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency.
de la Morena-Barrio B, Orlando C, Sanchis-Juan A, García JL, Padilla J, de la Morena-Barrio ME, Puruunen M, Stouffs K, Cifuentes R, Borràs N, Bravo-Pérez C, Benito R, Cuenca-Guardiola J, Vicente V, Vidal F, Hernández-Rivas JM, Ouwehand W, Jochmans K, Corral J. de la Morena-Barrio B, et al. Among authors: ouwehand w. J Mol Diagn. 2022 May;24(5):462-475. doi: 10.1016/j.jmoldx.2022.01.009. Epub 2022 Feb 23. J Mol Diagn. 2022. PMID: 35218943 Free 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. 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.
Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis.
McKerrell T, Park N, Moreno T, Grove CS, Ponstingl H, Stephens J; Understanding Society Scientific Group; Crawley C, Craig J, Scott MA, Hodkinson C, Baxter J, Rad R, Forsyth DR, Quail MA, Zeggini E, Ouwehand W, Varela I, Vassiliou GS. McKerrell T, et al. Among authors: ouwehand w. Cell Rep. 2015 Mar 3;10(8):1239-45. doi: 10.1016/j.celrep.2015.02.005. Epub 2015 Feb 26. Cell Rep. 2015. PMID: 25732814 Free PMC article.
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.
Tuijnenburg P, Lango Allen H, Burns SO, Greene D, Jansen MH, Staples E, Stephens J, Carss KJ, Biasci D, Baxendale H, Thomas M, Chandra A, Kiani-Alikhan S, Longhurst HJ, Seneviratne SL, Oksenhendler E, Simeoni I, de Bree GJ, Tool ATJ, van Leeuwen EMM, Ebberink EHTM, Meijer AB, Tuna S, Whitehorn D, Brown M, Turro E, Thrasher AJ, Smith KGC, Thaventhiran JE, Kuijpers TW; NIHR BioResource–Rare Diseases Consortium. Tuijnenburg P, et al. J Allergy Clin Immunol. 2018 Oct;142(4):1285-1296. doi: 10.1016/j.jaci.2018.01.039. Epub 2018 Mar 2. J Allergy Clin Immunol. 2018. PMID: 29477724 Free PMC article.
Mining the Plasma Proteome for Insights into the Molecular Pathology of Pulmonary Arterial Hypertension.
Harbaum L, Rhodes CJ, Wharton J, Lawrie A, Karnes JH, Desai AA, Nichols WC, Humbert M, Montani D, Girerd B, Sitbon O, Boehm M, Novoyatleva T, Schermuly RT, Ghofrani HA, Toshner M, Kiely DG, Howard LS, Swietlik EM, Gräf S, Pietzner M, Morrell NW, Wilkins MR; U.K. National Institute for Health Research BioResource Rare Diseases Consortium, U.K. Pulmonary Arterial Hypertension Cohort Study Consortium, and U.S. Pulmonary Arterial Hypertension Biobank Consortium. Harbaum L, et al. Am J Respir Crit Care Med. 2022 Jun 15;205(12):1449-1460. doi: 10.1164/rccm.202109-2106OC. Am J Respir Crit Care Med. 2022. PMID: 35394406 Free PMC article.
Cutting edge: TREM-like transcript-1, a platelet immunoreceptor tyrosine-based inhibition motif encoding costimulatory immunoreceptor that enhances, rather than inhibits, calcium signaling via SHP-2.
Barrow AD, Astoul E, Floto A, Brooke G, Relou IA, Jennings NS, Smith KG, Ouwehand W, Farndale RW, Alexander DR, Trowsdale J. Barrow AD, et al. Among authors: ouwehand w. J Immunol. 2004 May 15;172(10):5838-42. doi: 10.4049/jimmunol.172.10.5838. J Immunol. 2004. PMID: 15128762
Longer-term efficiency and safety of increasing the frequency of whole blood donation (INTERVAL): extension study of a randomised trial of 20 757 blood donors.
Kaptoge S, Di Angelantonio E, Moore C, Walker M, Armitage J, Ouwehand WH, Roberts DJ, Danesh J, Thompson SG; INTERVAL Trial Group. Kaptoge S, et al. Lancet Haematol. 2019 Oct;6(10):e510-e520. doi: 10.1016/S2352-3026(19)30106-1. Epub 2019 Aug 2. Lancet Haematol. 2019. PMID: 31383583 Free PMC article. Clinical Trial.
Single nucleotide variants in the protein C pathway and mortality in dialysis patients.
Ocak G, Drechsler C, Vossen CY, Vos HL, Rosendaal FR, Reitsma PH, Hoffmann MM, März W, Ouwehand WH, Krediet RT, Boeschoten EW, Dekker FW, Wanner C, Verduijn M. Ocak G, et al. Among authors: ouwehand wh. PLoS One. 2014 May 9;9(5):e97251. doi: 10.1371/journal.pone.0097251. eCollection 2014. PLoS One. 2014. PMID: 24816905 Free PMC article.
Triglyceride-mediated pathways and coronary disease: collaborative analysis of 101 studies.
Triglyceride Coronary Disease Genetics Consortium and Emerging Risk Factors Collaboration; Sarwar N, Sandhu MS, Ricketts SL, Butterworth AS, Di Angelantonio E, Boekholdt SM, Ouwehand W, Watkins H, Samani NJ, Saleheen D, Lawlor D, Reilly MP, Hingorani AD, Talmud PJ, Danesh J. Triglyceride Coronary Disease Genetics Consortium and Emerging Risk Factors Collaboration, et al. Among authors: ouwehand w. Lancet. 2010 May 8;375(9726):1634-9. doi: 10.1016/S0140-6736(10)60545-4. Lancet. 2010. PMID: 20452521 Free PMC article.
415 results