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    Results: 1 to 20 of 566

    1.

    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. Epub 2007 Nov 9.PMID: 17993578 [PubMed - indexed for MEDLINE]Related articles

    2.

    Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

    Zur Stadt U, Beutel K, Kolberg S, Schneppenheim R, Kabisch H, Janka G, Hennies HC.

    Hum Mutat. 2006 Jan;27(1):62-8.PMID: 16278825 [PubMed - indexed for MEDLINE]Related articles

    3.

    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 Sep;143(1):75-83. Epub 2008 Aug 15.PMID: 18710388 [PubMed - indexed for MEDLINE]Related articles

    4.

    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.

    Blood. 2007 Sep 15;110(6):1906-15. Epub 2007 May 24.PMID: 17525286 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    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;43(4):e14.PMID: 16582076 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.

    Santoro A, Cannella S, Bossi G, Gallo F, Trizzino A, Pende D, Dieli F, Bruno G, Stinchcombe JC, Micalizzi C, De Fusco C, Danesino C, Moretta L, Notarangelo LD, Griffiths GM, Aricò M.

    J Med Genet. 2006 Dec;43(12):953-60. Epub 2006 Jul 6.PMID: 16825436 [PubMed - indexed for MEDLINE]Related articles

    7.

    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 1;105(9):3442-8. Epub 2005 Jan 4.PMID: 15632205 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    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. Epub 2005 Feb 9.PMID: 15703195 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    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. Epub 2007 Sep 14.PMID: 17873118 [PubMed - indexed for MEDLINE]Related articles

    10.

    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.PMID: 16365863 [PubMed - indexed for MEDLINE]Related articles

    11.

    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. Epub 2001 Feb 6.PMID: 11179007 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    [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;145(1):50-4. Czech. PMID: 16468242 [PubMed - indexed for MEDLINE]Related articles

    13.

    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;58(2):567-70.PMID: 18240215 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    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;117(4):965-72.PMID: 12060139 [PubMed - indexed for MEDLINE]Related articles

    15.

    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. Epub 2008 Jan 10.PMID: 18190960 [PubMed - indexed for MEDLINE]Related articles

    16.

    Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease.

    Marcenaro S, Gallo F, Martini S, Santoro A, Griffiths GM, Aricó M, Moretta L, Pende D.

    Blood. 2006 Oct 1;108(7):2316-23. Epub 2006 Jun 15.PMID: 16778144 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    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.PMID: 17652853 [PubMed - indexed for MEDLINE]Related articles

    18.

    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.PMID: 17266056 [PubMed - indexed for MEDLINE]Related articles

    19.

    Mutations of perforin and Munc13-4 do not mark HLH by NK defects.

    Schneider EM.

    Pediatr Blood Cancer. 2006 Apr;46(4):409-11. No abstract available. PMID: 16365870 [PubMed - indexed for MEDLINE]Related articles

    20.

    Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3.

    Santoro A, Cannella S, Trizzino A, Bruno G, De Fusco C, Notarangelo LD, Pende D, Griffiths GM, Aricò M.

    Haematologica. 2008 Jul;93(7):1086-90. Epub 2008 May 19.PMID: 18492689 [PubMed - indexed for MEDLINE]Related articlesFree article

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