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331 results

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Page 1
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.
Combined spectral karyotyping, comparative genomic hybridization, and in vitro apoptyping of a panel of Burkitt's lymphoma-derived B cell lines reveals an unexpected complexity of chromosomal aberrations and a recurrence of specific abnormalities in chemoresistant cell lines.
Karpova MB, Schoumans J, Blennow E, Ernberg I, Henter JI, Smirnov AF, Nordenskjöld M, Fadeel B. Karpova MB, et al. Among authors: nordenskjold m. Int J Oncol. 2006 Mar;28(3):605-17. Int J Oncol. 2006. PMID: 16465364
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.
Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.
Melin M, Entesarian M, Carlsson G, Garwicz D, Klein C, Fadeel B, Nordenskjöld M, Palmblad J, Henter JI, Dahl N. Melin M, et al. Among authors: nordenskjold m. Biochem Biophys Res Commun. 2007 Feb 16;353(3):571-5. doi: 10.1016/j.bbrc.2006.12.086. Epub 2006 Dec 20. Biochem Biophys Res Commun. 2007. PMID: 17188649 Free PMC article.
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