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Year Number of Results
2012 1
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2016 1
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16 results

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Page 1
Rare platelet GPCR variants: what can we learn?
Nisar SP, Jones ML, Cunningham MR, Mumford AD, Mundell SJ; UK GAPP Study Group. Nisar SP, et al. Br J Pharmacol. 2015 Jul;172(13):3242-53. doi: 10.1111/bph.12941. Epub 2014 Nov 24. Br J Pharmacol. 2015. PMID: 25231155 Free PMC article. Review.
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. 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.
A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder.
Almazni I, Chudakou P, Dawson-Meadows A, Downes K, Freson K, Mason J, Page P, Reay K, Myers B, Morgan NV; UK GAPP Study Group. Almazni I, et al. Platelets. 2022 Feb 17;33(2):320-323. doi: 10.1080/09537104.2021.1887470. Epub 2021 Feb 22. Platelets. 2022. PMID: 33616470 Free article.
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.
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.
16 results