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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: sabel m. 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.
Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production.
Chiang SC, Theorell J, Entesarian M, Meeths M, Mastafa M, Al-Herz W, Frisk P, Gilmour KC, Ifversen M, Langenskiöld C, Machaczka M, Naqvi A, Payne J, Perez-Martinez A, Sabel M, Unal E, Unal S, Winiarski J, Nordenskjöld M, Ljunggren HG, Henter JI, Bryceson YT. Chiang SC, et al. Among authors: sabel m. Blood. 2013 Feb 21;121(8):1345-56. doi: 10.1182/blood-2012-07-442558. Epub 2013 Jan 2. Blood. 2013. PMID: 23287865 Free article.
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Tesi B, Lagerstedt-Robinson K, Chiang SC, Ben Bdira E, Abboud M, Belen B, Devecioglu O, Fadoo Z, Yeoh AE, Erichsen HC, Möttönen M, Akar HH, Hästbacka J, Kaya Z, Nunes S, Patiroglu T, Sabel M, Saribeyoglu ET, Tvedt TH, Unal E, Unal S, Unuvar A, Meeths M, Henter JI, Nordenskjöld M, Bryceson YT. Tesi B, et al. Among authors: sabel m. Genome Med. 2015 Dec 18;7:130. doi: 10.1186/s13073-015-0244-1. Genome Med. 2015. PMID: 26684649 Free PMC article.
Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis.
Chiang SCC, Covill LE, Tesi B, Campbell TM, Schlums H, Nejati-Zendegani J, Mördrup K, Wood S, Theorell J, Sekine T, Al-Herz W, Akar HH, Belen FB, Chan MY, Devecioglu O, Aksu T, Ifversen M, Malinowska I, Sabel M, Unal E, Unal S, Introne WJ, Krzewski K, Gilmour KC, Ehl S, Ljunggren HG, Nordenskjöld M, Horne A, Henter JI, Meeths M, Bryceson YT. Chiang SCC, et al. Among authors: sabel m. Blood. 2024 Aug 22;144(8):873-887. doi: 10.1182/blood.2024024499. Blood. 2024. PMID: 38958468 Free PMC article.
The Swedish childhood tumor biobank: systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden.
Díaz de Ståhl T, Shamikh A, Mayrhofer M, Juhos S, Basmaci E, Prochazka G, Garcia M, Somarajan PR, Zielinska-Chomej K, Illies C, Øra I, Siesjö P, Sandström PE, Stenman J, Sabel M, Gustavsson B, Kogner P, Pfeifer S, Ljungman G, Sandgren J, Nistér M. Díaz de Ståhl T, et al. Among authors: sabel m. J Transl Med. 2023 May 23;21(1):342. doi: 10.1186/s12967-023-04178-4. J Transl Med. 2023. PMID: 37221626 Free PMC article.
Prospective registration of symptoms and times to diagnosis in children and adolescents with central nervous system tumors: A study of the Swedish Childhood Cancer Registry.
Rask O, Nilsson F, Lähteenmäki P, Ehrstedt C, Holm S, Sandström PE, Nyman P, Sabel M, Grillner P; Swedish Childhood CNS Tumor Working Group (VCTB). Rask O, et al. Among authors: sabel m. Pediatr Blood Cancer. 2022 Nov;69(11):e29850. doi: 10.1002/pbc.29850. Epub 2022 Jun 23. Pediatr Blood Cancer. 2022. PMID: 35727740 Free article.
Comprehensive Analysis of Hypermutation in Human Cancer.
Campbell BB, Light N, Fabrizio D, Zatzman M, Fuligni F, de Borja R, Davidson S, Edwards M, Elvin JA, Hodel KP, Zahurancik WJ, Suo Z, Lipman T, Wimmer K, Kratz CP, Bowers DC, Laetsch TW, Dunn GP, Johanns TM, Grimmer MR, Smirnov IV, Larouche V, Samuel D, Bronsema A, Osborn M, Stearns D, Raman P, Cole KA, Storm PB, Yalon M, Opocher E, Mason G, Thomas GA, Sabel M, George B, Ziegler DS, Lindhorst S, Issai VM, Constantini S, Toledano H, Elhasid R, Farah R, Dvir R, Dirks P, Huang A, Galati MA, Chung J, Ramaswamy V, Irwin MS, Aronson M, Durno C, Taylor MD, Rechavi G, Maris JM, Bouffet E, Hawkins C, Costello JF, Meyn MS, Pursell ZF, Malkin D, Tabori U, Shlien A. Campbell BB, et al. Among authors: sabel m. Cell. 2017 Nov 16;171(5):1042-1056.e10. doi: 10.1016/j.cell.2017.09.048. Epub 2017 Oct 19. Cell. 2017. PMID: 29056344 Free PMC article.
DNA methylation profiling improves routine diagnosis of paediatric central nervous system tumours: A prospective population-based study.
Schepke E, Löfgren M, Pietsch T, Olsson Bontell T, Kling T, Wenger A, Ferreyra Vega S, Danielsson A, Dosa S, Holm S, Öberg A, Nyman P, Eliasson-Hofvander M, Sandström PE, Pfister SM, Lannering B, Sabel M, Carén H. Schepke E, et al. Among authors: sabel m. Neuropathol Appl Neurobiol. 2022 Oct;48(6):e12838. doi: 10.1111/nan.12838. Epub 2022 Aug 3. Neuropathol Appl Neurobiol. 2022. PMID: 35892159 Free PMC article.
474 results