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Page 1
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.
Postoperative speech impairment and surgical approach to posterior fossa tumours in children: a prospective European multicentre cohort study.
Grønbæk JK, Wibroe M, Toescu S, Frič R, Thomsen BL, Møller LN, Grillner P, Gustavsson B, Mallucci C, Aquilina K, Fellows GA, Molinari E, Hjort MA, Westerholm-Ormio M, Kiudeliene R, Mudra K, Hauser P, van Baarsen K, Hoving E, Zipfel J, Nysom K, Schmiegelow K, Sehested A, Juhler M, Mathiasen R; CMS study group. Grønbæk JK, et al. Lancet Child Adolesc Health. 2021 Nov;5(11):814-824. doi: 10.1016/S2352-4642(21)00274-1. Epub 2021 Oct 6. Lancet Child Adolesc Health. 2021. PMID: 34624241
Left-handedness should not be overrated as a risk factor for postoperative speech impairment in children after posterior fossa tumour surgery: a prospective European multicentre study.
Grønbæk JK, Laustsen AF, Toescu S, Pizer B, Mallucci C, Aquilina K, Molinari E, Hjort MA, Gumbeleviciene L, Hauser P, Pálmafy B, van Baarsen K, Hoving E, Zipfel J, Ehrstedt C, Grillner P, Callesen MT, Frič R, Wibroe M, Nysom K, Schmiegelow K, Sehested A, Mathiasen R, Juhler M; CMS study group. Grønbæk JK, et al. Childs Nerv Syst. 2022 Aug;38(8):1479-1485. doi: 10.1007/s00381-022-05567-8. Epub 2022 Jun 27. Childs Nerv Syst. 2022. PMID: 35759029
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.
477 results