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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, Ellison A, Pontikos N, Wang J, Tummala H, Al Seraihi AFH, Alnajar J, Bewicke-Copley F, Armes H, Barnett M, Bloor A, Bödör C, Bowen D, Fenaux P, Green A, Hallahan A, Hjorth-Hansen H, Hossain U, Killick S, Lawson S, Layton M, Male AM, Marsh J, Mehta P, Mous R, Nomdedéu JF, Owen C, Pavlu J, Payne EM, Protheroe RE, Preudhomme C, Pujol-Moix N, Renneville A, Russell N, Saggar A, Sciuccati G, Taussig D, Toze CL, Uyttebroeck A, Vandenberghe P, Schlegelberger B, Ripperger T, Steinemann D, Wu J, Mason J, Page P, Akiki S, Reay K, Cavenagh JD, Plagnol V, Caceres JF, Fitzgibbon J, Dokal I. Rio-Machin A, et al. Among authors: mason j. Nat Commun. 2020 Feb 25;11(1):1044. doi: 10.1038/s41467-020-14829-5. Nat Commun. 2020. PMID: 32098966 Free PMC article.
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. Among authors: mason j. Platelets. 2022 Feb 17;33(2):320-323. doi: 10.1080/09537104.2021.1887470. Epub 2021 Feb 22. Platelets. 2022. PMID: 33616470 Free article.
Assessment of Minimal Residual Disease in Standard-Risk AML.
Ivey A, Hills RK, Simpson MA, Jovanovic JV, Gilkes A, Grech A, Patel Y, Bhudia N, Farah H, Mason J, Wall K, Akiki S, Griffiths M, Solomon E, McCaughan F, Linch DC, Gale RE, Vyas P, Freeman SD, Russell N, Burnett AK, Grimwade D; UK National Cancer Research Institute AML Working Group. Ivey A, et al. Among authors: mason j. N Engl J Med. 2016 Feb 4;374(5):422-33. doi: 10.1056/NEJMoa1507471. Epub 2016 Jan 20. N Engl J Med. 2016. PMID: 26789727 Free article. Clinical Trial.
NUP98-NSD1 fusion in association with FLT3-ITD mutation identifies a prognostically relevant subgroup of pediatric acute myeloid leukemia patients suitable for monitoring by real time quantitative PCR.
Akiki S, Dyer SA, Grimwade D, Ivey A, Abou-Zeid N, Borrow J, Jeffries S, Caddick J, Newell H, Begum S, Tawana K, Mason J, Velangi M, Griffiths M. Akiki S, et al. Among authors: mason j. Genes Chromosomes Cancer. 2013 Nov;52(11):1053-64. doi: 10.1002/gcc.22100. Epub 2013 Sep 2. Genes Chromosomes Cancer. 2013. PMID: 23999921
Pitfalls in molecular diagnosis in haemato-oncology.
Mason J, Akiki S, Griffiths MJ. Mason J, et al. J Clin Pathol. 2011 Apr;64(4):275-8. doi: 10.1136/jcp.2010.081349. J Clin Pathol. 2011. PMID: 21421696 Review. No abstract available.
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
Garrett A, Durkie M, Callaway A, Burghel GJ, Robinson R, Drummond J, Torr B, Cubuk C, Berry IR, Wallace AJ, Ellard S, Eccles DM, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. J Med Genet. 2021 May;58(5):297-304. doi: 10.1136/jmedgenet-2020-107248. Epub 2020 Nov 18. J Med Genet. 2021. PMID: 33208383 Free PMC article.
Consensus on BCR-ABL1 reporting in chronic myeloid leukaemia in the UK.
Cross NCP, White HE, Evans PAS, Hancock J, Copland M, Milojkovic D, Mason J, Craine S, Mead AJ. Cross NCP, et al. Among authors: mason j. Br J Haematol. 2018 Sep;182(6):777-788. doi: 10.1111/bjh.15542. Epub 2018 Aug 20. Br J Haematol. 2018. PMID: 30125955 Free PMC article. Review.
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Garrett A, Callaway A, Durkie M, Cubuk C, Alikian M, Burghel GJ, Robinson R, Izatt L, Talukdar S, Side L, Cranston T, Palmer-Smith S, Baralle D, Berry IR, Drummond J, Wallace AJ, Norbury G, Eccles DM, Ellard S, Lalloo F, Evans DG, Woodward E, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. J Med Genet. 2020 Dec;57(12):829-834. doi: 10.1136/jmedgenet-2019-106759. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170000 Free PMC article.
Molecular diagnosis of leukemia.
Mason J, Griffiths M. Mason J, et al. Expert Rev Mol Diagn. 2012 Jun;12(5):511-26. doi: 10.1586/erm.12.44. Expert Rev Mol Diagn. 2012. PMID: 22702367 Review.
3,929 results