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150 related items for PubMed ID: 12483306
1. Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis. Ericson KG, Fadeel B, Andersson M, Gudmundsson GH, Gürgey A, Yalman N, Janka G, Nordenskjöld M, Henter JI. Hum Genet; 2003 Jan; 112(1):98-9. PubMed ID: 12483306 [Abstract] [Full Text] [Related]
5. Biology and treatment of familial hemophagocytic lymphohistiocytosis: importance of perforin in lymphocyte-mediated cytotoxicity and triggering of apoptosis. Henter JI. Med Pediatr Oncol; 2002 May; 38(5):305-9. PubMed ID: 11979453 [Abstract] [Full Text] [Related]
6. 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. Am J Hum Genet; 2001 Mar; 68(3):590-7. PubMed ID: 11179007 [Abstract] [Full Text] [Related]
7. Perforin gene analaysis in an Iranian family with familial hemophagocytic lymphohistiocytosis. Galehdari H, Mohammadi E, Andashti B, Naderi A, Molavi MA. Iran J Immunol; 2007 Jun; 4(2):122-6. PubMed ID: 17652853 [Abstract] [Full Text] [Related]
8. Dimethyl 2,2-dichlorovinyl phosphate (DDVP) markedly decreases the expression of perforin, granzyme A and granulysin in human NK-92CI cell line. Li Q, Nakadai A, Ishizaki M, Morimoto K, Ueda A, Krensky AM, Kawada T. Toxicology; 2005 Sep 15; 213(1-2):107-16. PubMed ID: 16002202 [Abstract] [Full Text] [Related]
11. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, Henter JI, Bennett M, Fischer A, de Saint Basile G, Kumar V. Science; 1999 Dec 03; 286(5446):1957-9. PubMed ID: 10583959 [Abstract] [Full Text] [Related]
12. Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes. Yamamoto K, Ishii E, Sako M, Ohga S, Furuno K, Suzuki N, Ueda I, Imayoshi M, Yamamoto S, Morimoto A, Takada H, Hara T, Imashuku S, Sasazuki T, Yasukawa M. J Med Genet; 2004 Oct 03; 41(10):763-7. PubMed ID: 15466010 [Abstract] [Full Text] [Related]
13. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI, Kabisch H, Schneppenheim R, Nürnberg P, Janka G, Hennies HC. Hum Mol Genet; 2005 Mar 15; 14(6):827-34. PubMed ID: 15703195 [Abstract] [Full Text] [Related]
14. The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene. Voskoboinik I, Thia MC, De Bono A, Browne K, Cretney E, Jackson JT, Darcy PK, Jane SM, Smyth MJ, Trapani JA. J Exp Med; 2004 Sep 20; 200(6):811-6. PubMed ID: 15365097 [Abstract] [Full Text] [Related]
15. Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL). Ueda I, Ishii E, Morimoto A, Ohga S, Sako M, Imashuku S. Pediatr Blood Cancer; 2006 Apr 20; 46(4):482-8. PubMed ID: 16365863 [Abstract] [Full Text] [Related]
16. Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection. Mancebo E, Allende LM, Guzmán M, Paz-Artal E, Gil J, Urrea-Moreno R, Fernández-Cruz E, Gayà A, Calvo J, Arbós A, Durán MA, Canet R, Balanzat J, Udina MA, Vercher FJ. Haematologica; 2006 Sep 20; 91(9):1257-60. PubMed ID: 16956828 [Abstract] [Full Text] [Related]
19. Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis. Rudd E, Bryceson YT, Zheng C, Edner J, Wood SM, Ramme K, Gavhed S, Gürgey A, Hellebostad M, Bechensteen AG, Ljunggren HG, Fadeel B, Nordenskjöld M, Henter JI. J Med Genet; 2008 Mar 20; 45(3):134-41. PubMed ID: 17993578 [Abstract] [Full Text] [Related]
20. In situ detection of activated cytotoxic cells in follicular lymphomas. Leger-Ravet MB, Devergne O, Peuchmaur M, Solal-Celigny P, Brousse N, Gaulard P, Galanaud P, Emilie D. Am J Pathol; 1994 Mar 20; 144(3):492-9. PubMed ID: 7510456 [Abstract] [Full Text] [Related] Page: [Next] [New Search]