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Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.
Meeths M, Chiang SC, Wood SM, Entesarian M, Schlums H, Bang B, Nordenskjöld E, Björklund C, Jakovljevic G, Jazbec J, Hasle H, Holmqvist BM, Rajic L, Pfeifer S, Rosthøj S, Sabel M, Salmi TT, Stokland T, Winiarski J, Ljunggren HG, Fadeel B, Nordenskjöld M, Henter JI, Bryceson YT. Meeths M, et al. Among authors: bang b. Blood. 2011 Nov 24;118(22):5783-93. doi: 10.1182/blood-2011-07-369090. Epub 2011 Sep 19. Blood. 2011. PMID: 21931115 Free article.
Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.
Järviaho T, Zachariadis V, Tesi B, Chiang S, Bryceson YT, Möttönen M, Niinimäki R, Bang B, Rahikkala E, Taylan F, Uusimaa J, Harila-Saari A, Nordgren A. Järviaho T, et al. Among authors: bang b. Br J Haematol. 2019 Apr;185(2):354-357. doi: 10.1111/bjh.15494. Epub 2018 Jul 13. Br J Haematol. 2019. PMID: 30004112 Free article. No abstract available.
Long COVID and cardiovascular disease: a prospective cohort study.
Lawson CA, Moss AJ, Arnold JR, Bagot C, Banerjee A, Berry C, Greenwood J, Hughes AD, Khunti K, Mills NL, Neubauer S, Raman B, Sattar N, Leavy OC, Richardson M, Elneima O, McAuley HJ, Shikotra A, Singapuri A, Sereno M, Saunders R, Harris V, Houchen-Wolloff L, Greening NJ, Harrison E, Docherty AB, Lone NI, Quint JK, Chalmers J, Ho LP, Horsley A, Marks M, Poinasamy K, Evans R, Wain LV, Brightling C, McCann GP; PHOSP-COVID Study Collaborative Group. Lawson CA, et al. Open Heart. 2024 May 27;11(1):e002662. doi: 10.1136/openhrt-2024-002662. Open Heart. 2024. PMID: 38802280 Free PMC article.
Post-acute COVID-19 neuropsychiatric symptoms are not associated with ongoing nervous system injury.
Taquet M, Skorniewska Z, Zetterberg H, Geddes JR, Mummery CJ, Chalmers JD, Ho LP, Horsley A, Marks M, Poinasamy K, Raman B, Leavy OC, Richardson M, Elneima O, McAuley HJC, Shikotra A, Singapuri A, Sereno M, Saunders RM, Harris VC, Houchen-Wolloff L, Mansoori P, Greening NJ, Harrison EM, Docherty AB, Lone NI, Quint J, Greenhalf W, Wain LV, Brightling CE, Evans RE, Harrison PJ, Koychev I; PHOSP-COVID Study Collaborative Group. Taquet M, et al. Brain Commun. 2023 Dec 27;6(1):fcad357. doi: 10.1093/braincomms/fcad357. eCollection 2024. Brain Commun. 2023. PMID: 38229877 Free PMC article.
Accelarated immune ageing is associated with COVID-19 disease severity.
Lord JM, Veenith T, Sullivan J, Sharma-Oates A, Richter AG, Greening NJ, McAuley HJC, Evans RA, Moss P, Moore SC, Turtle L, Gautam N, Gilani A, Bajaj M, Wain LV, Brightling C, Raman B, Marks M, Singapuri A, Elneima O, Openshaw PJM, Duggal NA; PHOSP-COVID Study collaborative group; ISARIC4C investigators. Lord JM, et al. Immun Ageing. 2024 Jan 11;21(1):6. doi: 10.1186/s12979-023-00406-z. Immun Ageing. 2024. PMID: 38212801 Free PMC article.
389 results