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215 results

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Page 1
Epigenomic translocation of H3K4me3 broad domains over oncogenes following hijacking of super-enhancers.
Mikulasova A, Kent D, Trevisan-Herraz M, Karataraki N, Fung KTM, Ashby C, Cieslak A, Yaccoby S, van Rhee F, Zangari M, Thanendrarajan S, Schinke C, Morgan GJ, Asnafi V, Spicuglia S, Brackley CA, Corcoran AE, Hambleton S, Walker BA, Rico D, Russell LJ. Mikulasova A, et al. Among authors: hambleton s. Genome Res. 2022 Jul;32(7):1343-1354. doi: 10.1101/gr.276042.121. Epub 2021 Dec 21. Genome Res. 2022. PMID: 34933939 Free PMC article.
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.
Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA. Duncan CJA, et al. Among authors: hambleton s. Sci Immunol. 2019 Dec 13;4(42):eaav7501. doi: 10.1126/sciimmunol.aav7501. Sci Immunol. 2019. PMID: 31836668 Free PMC article.
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma.
Stremenova Spegarova J, Lawless D, Mohamad SMB, Engelhardt KR, Doody G, Shrimpton J, Rensing-Ehl A, Ehl S, Rieux-Laucat F, Cargo C, Griffin H, Mikulasova A, Acres M, Morgan NV, Poulter JA, Sheridan EG, Chetcuti P, O'Riordan S, Anwar R, Carter CR, Przyborski S, Windebank K, Cant AJ, Lako M, Bacon CM, Savic S, Hambleton S. Stremenova Spegarova J, et al. Among authors: hambleton s. Blood. 2020 Aug 27;136(9):1055-1066. doi: 10.1182/blood.2020005844. Blood. 2020. PMID: 32518946 Free article.
Low-strength T-cell activation promotes Th17 responses.
Purvis HA, Stoop JN, Mann J, Woods S, Kozijn AE, Hambleton S, Robinson JH, Isaacs JD, Anderson AE, Hilkens CM. Purvis HA, et al. Among authors: hambleton s. Blood. 2010 Dec 2;116(23):4829-37. doi: 10.1182/blood-2010-03-272153. Epub 2010 Aug 16. Blood. 2010. PMID: 20713963 Free PMC article.
Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency.
Rensing-Ehl A, Warnatz K, Fuchs S, Schlesier M, Salzer U, Draeger R, Bondzio I, Joos Y, Janda A, Gomes M, Abinun M, Hambleton S, Cant A, Shackley F, Flood T, Waruiru C, Beutel K, Siepermann K, Dueckers G, Niehues T, Wiesel T, Schuster V, Seidel MG, Minkov M, Sirkiä K, Kopp MV, Korhonen M, Schwarz K, Ehl S, Speckmann C. Rensing-Ehl A, et al. Among authors: hambleton s. Clin Immunol. 2010 Dec;137(3):357-65. doi: 10.1016/j.clim.2010.08.008. Epub 2010 Sep 15. Clin Immunol. 2010. PMID: 20832369
Polymorphous lymphoproliferative disorder with Hodgkin-like features in common γ-chain-deficient severe combined immunodeficiency.
Slatter MA, Angus B, Windebank K, Taylor A, Meaney C, Lester T, Norbury G, Hambleton S, Abinun M, Flood TJ, Cant AJ, Gennery AR. Slatter MA, et al. Among authors: hambleton s. J Allergy Clin Immunol. 2011 Feb;127(2):533-5. doi: 10.1016/j.jaci.2010.09.036. Epub 2010 Nov 20. J Allergy Clin Immunol. 2011. PMID: 21094519 No abstract available.
Whole-exome-sequencing-based discovery of human FADD deficiency.
Bolze A, Byun M, McDonald D, Morgan NV, Abhyankar A, Premkumar L, Puel A, Bacon CM, Rieux-Laucat F, Pang K, Britland A, Abel L, Cant A, Maher ER, Riedl SJ, Hambleton S, Casanova JL. Bolze A, et al. Among authors: hambleton s. Am J Hum Genet. 2010 Dec 10;87(6):873-81. doi: 10.1016/j.ajhg.2010.10.028. Epub 2010 Nov 25. Am J Hum Genet. 2010. PMID: 21109225 Free PMC article.
Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells.
Morgan NV, Goddard S, Cardno TS, McDonald D, Rahman F, Barge D, Ciupek A, Straatman-Iwanowska A, Pasha S, Guckian M, Anderson G, Huissoon A, Cant A, Tate WP, Hambleton S, Maher ER. Morgan NV, et al. Among authors: hambleton s. J Clin Invest. 2011 Feb;121(2):695-702. doi: 10.1172/JCI41931. Epub 2011 Jan 4. J Clin Invest. 2011. PMID: 21206088 Free PMC article.
Treosulfan-based conditioning regimens for hematopoietic stem cell transplantation in children with primary immunodeficiency: United Kingdom experience.
Slatter MA, Rao K, Amrolia P, Flood T, Abinun M, Hambleton S, Nademi Z, Goulden N, Davies G, Qasim W, Gaspar HB, Cant A, Gennery AR, Veys P. Slatter MA, et al. Among authors: hambleton s. Blood. 2011 Apr 21;117(16):4367-75. doi: 10.1182/blood-2010-10-312082. Epub 2011 Feb 16. Blood. 2011. PMID: 21325599 Free article.
215 results