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Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.
Rudd E, Göransdotter Ericson K, Zheng C, Uysal Z, Ozkan A, Gürgey A, Fadeel B, Nordenskjöld M, Henter JI. Rudd E, et al. Among authors: nordenskjold m. J Med Genet. 2006 Apr;43(4):e14. doi: 10.1136/jmg.2005.035253. J Med Genet. 2006. PMID: 16582076 Free PMC article.
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.
Göransdotter Ericson K, Fadeel B, Nilsson-Ardnor S, Söderhäll C, Samuelsson A, Janka G, Schneider M, Gürgey A, Yalman N, Révész T, Egeler R, Jahnukainen K, Storm-Mathiesen I, Haraldsson A, Poole J, de Saint Basile G, Nordenskjöld M, Henter J. Göransdotter Ericson K, et al. Among authors: nordenskjold m. Am J Hum Genet. 2001 Mar;68(3):590-7. doi: 10.1086/318796. Epub 2001 Feb 6. Am J Hum Genet. 2001. PMID: 11179007 Free PMC article.
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.
Meeths M, Bryceson YT, Rudd E, Zheng C, Wood SM, Ramme K, Beutel K, Hasle H, Heilmann C, Hultenby K, Ljunggren HG, Fadeel B, Nordenskjöld M, Henter JI. Meeths M, et al. Among authors: nordenskjold m. Pediatr Blood Cancer. 2010 Apr;54(4):563-72. doi: 10.1002/pbc.22357. Pediatr Blood Cancer. 2010. PMID: 19953648
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.
Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, Bechensteen AG, Boelens JJ, Celkan T, Farah RA, Hultenby K, Winiarski J, Roche PA, Nordenskjöld M, Henter JI, Long EO, Ljunggren HG. Bryceson YT, et al. Among authors: nordenskjold m. Blood. 2007 Sep 15;110(6):1906-15. doi: 10.1182/blood-2007-02-074468. Epub 2007 May 24. Blood. 2007. PMID: 17525286 Free PMC article.
331 results