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122 related items for PubMed ID: 12764739

  • 1. Rapid LightCycler assay for identification of the perforin codon 374 Trp --> stop mutation in patients and families with hemophagocytic lymphohistiocytosis (HLH).
    zur Stadt U, Kabisch H, Janka G, Schneider EM.
    Med Pediatr Oncol; 2003 Jul; 41(1):26-9. PubMed ID: 12764739
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.
    Clementi R, zur Stadt U, Savoldi G, Varoitto S, Conter V, De Fusco C, Notarangelo LD, Schneider M, Klersy C, Janka G, Danesino C, Aricò M.
    J Med Genet; 2001 Sep 03; 38(9):643-6. PubMed ID: 11565555
    [No Abstract] [Full Text] [Related]

  • 5. Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.
    Ueda I, Morimoto A, Inaba T, Yagi T, Hibi S, Sugimoto T, Sako M, Yanai F, Fukushima T, Nakayama M, Ishii E, Imashuku S.
    Br J Haematol; 2003 May 03; 121(3):503-10. PubMed ID: 12716377
    [Abstract] [Full Text] [Related]

  • 6. Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members.
    Kogawa K, Lee SM, Villanueva J, Marmer D, Sumegi J, Filipovich AH.
    Blood; 2002 Jan 01; 99(1):61-6. PubMed ID: 11756153
    [Abstract] [Full Text] [Related]

  • 7. Primary hemophagocytic lymphohistiocytosis in Turkish children.
    Gürgey A, Göğüş S, Ozyürek E, Aslan D, Gümrük F, Cetin M, Yüce A, Ceyhan M, Seçmeer G, Yetgin S, Hiçsönmez G.
    Pediatr Hematol Oncol; 2003 Jan 01; 20(5):367-71. PubMed ID: 12775534
    [Abstract] [Full Text] [Related]

  • 8. Clinical and genetic studies of familial hemophagocytic lymphohistiocytosis in Oman: need for early treatment.
    Al-Lamki Z, Wali YA, Pathare A, Ericson KG, Henter JI.
    Pediatr Hematol Oncol; 2003 Dec 01; 20(8):603-9. PubMed ID: 14578030
    [Abstract] [Full Text] [Related]

  • 9. Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan.
    Suga N, Takada H, Nomura A, Ohga S, Ishii E, Ihara K, Ohshima K, Hara T.
    Br J Haematol; 2002 Feb 01; 116(2):346-9. PubMed ID: 11841437
    [Abstract] [Full Text] [Related]

  • 10. Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing.
    McCormick J, Flower DR, Strobel S, Wallace DL, Beverley PC, Tchilian EZ.
    Am J Med Genet A; 2003 Mar 15; 117A(3):255-60. PubMed ID: 12599189
    [Abstract] [Full Text] [Related]

  • 11. Prenatal diagnosis of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHLH).
    zur Stadt U, Pruggmayer M, Jung H, Henter JI, Schneider M, Kabisch H, Janka G.
    Prenat Diagn; 2002 Jan 15; 22(1):80-1. PubMed ID: 11810660
    [No Abstract] [Full Text] [Related]

  • 12. A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis.
    Voskoboinik I, Thia MC, Trapani JA.
    Blood; 2005 Jun 15; 105(12):4700-6. PubMed ID: 15755897
    [Abstract] [Full Text] [Related]

  • 13. Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.
    Feldmann J, Le Deist F, Ouachée-Chardin M, Certain S, Alexander S, Quartier P, Haddad E, Wulffraat N, Casanova JL, Blanche S, Fischer A, de Saint Basile G.
    Br J Haematol; 2002 Jun 15; 117(4):965-72. PubMed ID: 12060139
    [Abstract] [Full Text] [Related]

  • 14. Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions.
    Ishii E, Ueda I, Shirakawa R, Yamamoto K, Horiuchi H, Ohga S, Furuno K, Morimoto A, Imayoshi M, Ogata Y, Zaitsu M, Sako M, Koike K, Sakata A, Takada H, Hara T, Imashuku S, Sasazuki T, Yasukawa M.
    Blood; 2005 May 01; 105(9):3442-8. PubMed ID: 15632205
    [Abstract] [Full Text] [Related]

  • 15. An inframe perforin gene deletion in familial hemophagocytic lymphohistiocytosis is associated with perforin expression.
    Muralitharan S, Al Lamki Z, Dennison D, Christie BS, Wali YA, Zachariah M, Romana M, Bayoumi R, Krishnamoorthy R.
    Am J Hematol; 2005 Jan 01; 78(1):59-63. PubMed ID: 15609274
    [Abstract] [Full Text] [Related]

  • 16. Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression.
    Aricò M, Allen M, Brusa S, Clementi R, Pende D, Maccario R, Moretta L, Danesino C.
    Br J Haematol; 2002 Oct 01; 119(1):180-8. PubMed ID: 12358924
    [Abstract] [Full Text] [Related]

  • 17. Development of hemophagocytic lymphohistiocytosis in triplets infected with HHV-8.
    Grossman WJ, Radhi M, Schauer D, Gerday E, Grose C, Goldman FD.
    Blood; 2005 Aug 15; 106(4):1203-6. PubMed ID: 15840696
    [Abstract] [Full Text] [Related]

  • 18. Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations.
    Clementi R, Emmi L, Maccario R, Liotta F, Moretta L, Danesino C, Aricó M.
    Blood; 2002 Sep 15; 100(6):2266-7. PubMed ID: 12229880
    [No Abstract] [Full Text] [Related]

  • 19. Review of hemophagocytic lymphohistiocytosis (HLH) in children with focus on Japanese experiences.
    Ishii E, Ohga S, Imashuku S, Kimura N, Ueda I, Morimoto A, Yamamoto K, Yasukawa M.
    Crit Rev Oncol Hematol; 2005 Mar 15; 53(3):209-23. PubMed ID: 15718147
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 46(4):482-8. PubMed ID: 16365863
    [Abstract] [Full Text] [Related]

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