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7,863 results

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Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction.
Lozano ML, Cook A, Bastida JM, Paul DS, Iruin G, Cid AR, Adan-Pedroso R, Ramón González-Porras J, Hernández-Rivas JM, Fletcher SJ, Johnson B, Morgan N, Ferrer-Marin F, Vicente V, Sondek J, Watson SP, Bergmeier W, Rivera J. Lozano ML, et al. Among authors: johnson b. Blood. 2016 Sep 1;128(9):1282-9. doi: 10.1182/blood-2015-11-683102. Epub 2016 May 27. Blood. 2016. PMID: 27235135 Free PMC article. Clinical Trial.
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Johnson B, Lowe GC, Futterer J, Lordkipanidzé M, MacDonald D, Simpson MA, Sanchez-Guiú I, Drake S, Bem D, Leo V, Fletcher SJ, Dawood B, Rivera J, Allsup D, Biss T, Bolton-Maggs PH, Collins P, Curry N, Grimley C, James B, Makris M, Motwani J, Pavord S, Talks K, Thachil J, Wilde J, Williams M, Harrison P, Gissen P, Mundell S, Mumford A, Daly ME, Watson SP, Morgan NV; UK GAPP Study Group. Johnson B, et al. Haematologica. 2016 Oct;101(10):1170-1179. doi: 10.3324/haematol.2016.146316. Epub 2016 Jun 16. Haematologica. 2016. PMID: 27479822 Free PMC article.
Mutation in GNE is associated with severe congenital thrombocytopenia.
Futterer J, Dalby A, Lowe GC, Johnson B, Simpson MA, Motwani J, Williams M, Watson SP, Morgan NV; UK GAPP Study Group. Futterer J, et al. Among authors: johnson b. Blood. 2018 Oct 25;132(17):1855-1858. doi: 10.1182/blood-2018-04-847798. Epub 2018 Jun 25. Blood. 2018. PMID: 29941673 Free PMC article. No abstract available.
SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.
Fletcher SJ, Johnson B, Lowe GC, Bem D, Drake S, Lordkipanidzé M, Guiú IS, Dawood B, Rivera J, Simpson MA, Daly ME, Motwani J, Collins PW, Watson SP, Morgan NV; UK Genotyping and Phenotyping of Platelets study group. Fletcher SJ, et al. Among authors: johnson b. J Clin Invest. 2015 Sep;125(9):3600-5. doi: 10.1172/JCI80347. Epub 2015 Aug 17. J Clin Invest. 2015. PMID: 26280575 Free PMC article. Clinical Trial.
A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.
Johnson B, Doak R, Allsup D, Astwood E, Evans G, Grimley C, James B, Myers B, Stokley S, Thachil J, Wilde J, Williams M, Makris M, Lowe GC, Wallis Y, Daly ME, Morgan NV; UK GAPP Study Group. Johnson B, et al. Res Pract Thromb Haemost. 2018 Oct 8;2(4):640-652. doi: 10.1002/rth2.12151. eCollection 2018 Oct. Res Pract Thromb Haemost. 2018. PMID: 30349881 Free PMC article.
7,863 results