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Journal Abstract Search

224 related items for PubMed ID: 18190960

  • 1. 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]

  • 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. 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]

  • 6. 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; 82(12):1099-102. PubMed ID: 17674359
    [Abstract] [Full Text] [Related]

  • 7. Central nervous system involvement in a case of familial hemophagocytic lymphohistiocytosis with perforin mutation.
    Akbayram S, Akgun C, Dogan M, Caksen H, Okur H, Oner AF.
    Genet Couns; 2011 Dec; 22(3):281-5. PubMed ID: 22029169
    [Abstract] [Full Text] [Related]

  • 8. Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis.
    Al-Jasmi F, Abdelhaleem M, Stockley T, Lee KS, Clarke JT.
    J Pediatr Hematol Oncol; 2008 Aug; 30(8):621-4. PubMed ID: 18799942
    [Abstract] [Full Text] [Related]

  • 9. 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; 91(9):1257-60. PubMed ID: 16956828
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation.
    Balta G, Okur H, Unal S, Yarali N, Gunes AM, Unal S, Turker M, Guler E, Ertem M, Albayrak M, Patiroglu T, Gurgey A.
    Leuk Res; 2010 Aug; 34(8):1012-7. PubMed ID: 20197201
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 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. A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia?
    Santoro A, Cannella S, Trizzino A, Lo Nigro L, Corsello G, Aricò M.
    Haematologica; 2005 May 15; 90(5):697-8. PubMed ID: 15921391
    [Abstract] [Full Text] [Related]

  • 15. Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations.
    Köker MY, Sanal O, van Leeuwen K, de Boer M, Metin A, Patiroğlu T, Ozgür TT, Tezcan I, Roos D.
    Eur J Clin Invest; 2009 Oct 15; 39(10):942-51. PubMed ID: 19624736
    [Abstract] [Full Text] [Related]

  • 16. [Familial haemophagocytic lymphohistiocytosis caused by perforin deficit can be successfully treated by haematopoietic stem cell transplantation--the first diagnosed case in the Czech Republic].
    Spísek R, Mejstríková E, Formánková R, Zizková H, Vávra V, Hrusák O, Sedivá A, Sedlácek P, Starý J.
    Cas Lek Cesk; 2006 Oct 15; 145(1):50-4. PubMed ID: 16468242
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 143(1):75-83. PubMed ID: 18710388
    [Abstract] [Full Text] [Related]

  • 18. 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 Oct 15; 20(5):367-71. PubMed ID: 12775534
    [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 15; 34(6):852-67. PubMed ID: 20442642
    [Abstract] [Full Text] [Related]

  • 20. Neonatal primary hemophagocytic lymphohistiocytosis in Turkish children.
    Gurgey A, Unal S, Okur H, Orhan D, Yurdakok M.
    J Pediatr Hematol Oncol; 2008 Dec 15; 30(12):871-6. PubMed ID: 19131769
    [Abstract] [Full Text] [Related]

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