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Journal Abstract Search

281 related items for PubMed ID: 17873118

  • 1. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
    Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter JI, Griffiths G, Santoro A, Filipovich A, Aricò M, Histiocyte Society HLH Study group.
    J Med Genet; 2008 Jan; 45(1):15-21. PubMed ID: 17873118
    [Abstract] [Full Text] [Related]

  • 2. 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; 45(3):134-41. PubMed ID: 17993578
    [Abstract] [Full Text] [Related]

  • 3. Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations.
    Ueda I, Kurokawa Y, Koike K, Ito S, Sakata A, Matsumora T, Fukushima T, Morimoto A, Ishii E, Imashuku S.
    Am J Hematol; 2007 Jun; 82(6):427-32. PubMed ID: 17266056
    [Abstract] [Full Text] [Related]

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

  • 5. Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations.
    Okur H, Balta G, Akarsu N, Oner A, Patiroglu T, Bay A, Sayli T, Unal S, Gurgey A.
    Leuk Res; 2008 Jun; 32(6):972-5. PubMed ID: 18190960
    [Abstract] [Full Text] [Related]

  • 6. Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.
    Horne A, Ramme KG, Rudd E, Zheng C, Wali Y, al-Lamki Z, Gürgey A, Yalman N, Nordenskjöld M, Henter JI.
    Br J Haematol; 2008 Oct; 143(1):75-83. PubMed ID: 18710388
    [Abstract] [Full Text] [Related]

  • 7. Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis.
    Lu G, Xie ZD, Shen KL, Ye LJ, Wu RH, Liu CY, Jin YK, Yang S.
    Chin Med J (Engl); 2009 Dec 05; 122(23):2851-5. PubMed ID: 20092789
    [Abstract] [Full Text] [Related]

  • 8. 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 05; 4(2):122-6. PubMed ID: 17652853
    [Abstract] [Full Text] [Related]

  • 9. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
    Sieni E, Cetica V, Santoro A, Beutel K, Mastrodicasa E, Meeths M, Ciambotti B, Brugnolo F, zur Stadt U, Pende D, Moretta L, Griffiths GM, Henter JI, Janka G, Aricò M.
    J Med Genet; 2011 May 05; 48(5):343-52. PubMed ID: 21248318
    [Abstract] [Full Text] [Related]

  • 10. Novel spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis in ethnic Omani patients.
    Muralitharan S, Wali YA, Dennison D, Lamki ZA, Zachariah M, Nagwa el B, Pathare A, Krishnamoorthy R.
    Am J Hematol; 2007 Dec 05; 82(12):1099-102. PubMed ID: 17674359
    [Abstract] [Full Text] [Related]

  • 11. Down-regulation of CD5 expression on activated CD8+ T cells in familial hemophagocytic lymphohistiocytosis with perforin gene mutations.
    Wada T, Sakakibara Y, Nishimura R, Toma T, Ueno Y, Horita S, Tanaka T, Nishi M, Kato K, Yasumi T, Ohara O, Yachie A.
    Hum Immunol; 2013 Dec 05; 74(12):1579-85. PubMed ID: 24051121
    [Abstract] [Full Text] [Related]

  • 12. Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis.
    Hazen MM, Woodward AL, Hofmann I, Degar BA, Grom A, Filipovich AH, Binstadt BA.
    Arthritis Rheum; 2008 Feb 05; 58(2):567-70. PubMed ID: 18240215
    [Abstract] [Full Text] [Related]

  • 13. Mutations of perforin and Munc13-4 do not mark HLH by NK defects.
    Schneider EM.
    Pediatr Blood Cancer; 2006 Apr 05; 46(4):409-11. PubMed ID: 16365870
    [No Abstract] [Full Text] [Related]

  • 14. 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.
    J Med Genet; 2006 Apr 05; 43(4):e14. PubMed ID: 16582076
    [Abstract] [Full Text] [Related]

  • 15. 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 05; 41(10):763-7. PubMed ID: 15466010
    [Abstract] [Full Text] [Related]

  • 16. Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects.
    Zhang K, Johnson JA, Biroschak J, Villanueva J, Lee SM, Bleesing JJ, Risma KA, Wenstrup RJ, Filipovich AH.
    Int J Immunogenet; 2007 Aug 05; 34(4):231-3. PubMed ID: 17627755
    [No Abstract] [Full Text] [Related]

  • 17. Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.
    Tesi B, Chiang SC, El-Ghoneimy D, Hussein AA, Langenskiöld C, Wali R, Fadoo Z, Silva JP, Lecumberri R, Unal S, Nordenskjöld M, Bryceson YT, Henter JI, Meeths M.
    Pediatr Blood Cancer; 2015 Dec 05; 62(12):2094-100. PubMed ID: 26184781
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Pathology of the liver in familial hemophagocytic lymphohistiocytosis.
    Chen JH, Fleming MD, Pinkus GS, Pinkus JL, Nichols KE, Mo JQ, Perez-Atayde AR.
    Am J Surg Pathol; 2010 Jun 01; 34(6):852-67. PubMed ID: 20442642
    [Abstract] [Full Text] [Related]

  • 20. Perforin gene mutation in familial haemophagocytic lymphohistiocytosis: the first reported case from Hong Kong.
    Chiang GP, Li CK, Lee V, Cheng FW, Leung AW, Imashuku S, Imamura T, Shing MM.
    Hong Kong Med J; 2014 Aug 01; 20(4):339-42. PubMed ID: 25104007
    [Abstract] [Full Text] [Related]

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