BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

109 related articles for article (PubMed ID: 19639728)

  • 1. Severe course of community-acquired pneumonia in an adult patient who is heterozygous for Q481P in the perforin gene: are carriers of the mutation free of risk?
    García-Astudillo LA; Fontalba A; Mazorra F; Marín MJ; Castellanos A; Fernández S; Tejido R; López-Hoyos M
    J Investig Allergol Clin Immunol; 2009; 19(4):311-6. PubMed ID: 19639728
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Fatal hemophagocytic lymphohistiocytosis in X-linked chronic granulomatous disease associated with a perforin gene variant.
    van Montfrans JM; Rudd E; van de Corput L; Henter JI; Nikkels P; Wulffraat N; Boelens JJ
    Pediatr Blood Cancer; 2009 Apr; 52(4):527-9. PubMed ID: 19058215
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Functional impact of A91V mutation of the PRF1 perforin gene.
    Martínez-Pomar N; Lanio N; Romo N; Lopez-Botet M; Matamoros N
    Hum Immunol; 2013 Jan; 74(1):14-7. PubMed ID: 23073290
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A neurologic presentation of familial hemophagocytic lymphohistiocytosis which mimicked septic emboli to the brain.
    Turtzo LC; Lin DD; Hartung H; Barker PB; Arceci R; Yohay K
    J Child Neurol; 2007 Jul; 22(7):863-8. PubMed ID: 17715280
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 18240215
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis.
    Nagafuji K; Nonami A; Kumano T; Kikushige Y; Yoshimoto G; Takenaka K; Shimoda K; Ohga S; Yasukawa M; Horiuchi H; Ishii E; Harada M
    Haematologica; 2007 Jul; 92(7):978-81. PubMed ID: 17606450
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 34(4):231-3. PubMed ID: 17627755
    [No Abstract]   [Full Text] [Related]  

  • 9. Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.
    Nagai K; Yamamoto K; Fujiwara H; An J; Ochi T; Suemori K; Yasumi T; Tauchi H; Koh K; Sato M; Morimoto A; Heike T; Ishii E; Yasukawa M
    PLoS One; 2010 Nov; 5(11):e14173. PubMed ID: 21152410
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Analysis of clinical phenotype and genetic mutations of a pedigree of familial hemophagocytic lymphohistiocytosis].
    Sun S; Guo X; Zhu Y; Yang X; Li Q; Gao J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct; 31(5):570-3. PubMed ID: 25297583
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 122(23):2851-5. PubMed ID: 20092789
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel perforin gene mutation in a Japanese family with hemophagocytic lymphohistiocytosis.
    Ueda I; Kohdera U; Hibi S; Inaba T; Yamamoto K; Sugimoto T; Morimoto A; Ishii E; Imashuku S
    Int J Hematol; 2006 Jan; 83(1):51-4. PubMed ID: 16443553
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Association of nonimmune hydrops fetalis with familial hemophagocytic lymphohistiocytosis in identical twin neonates with perforin His222Arg (c665A>G) mutation.
    Balta G; Topcuoglu S; Gursoy T; Gurgey A; Ovali F
    J Pediatr Hematol Oncol; 2013 Nov; 35(8):e332-4. PubMed ID: 23073042
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hemophagocytic lymphohistiocytosis: when the immune system runs amok.
    Janka G
    Klin Padiatr; 2009 Sep; 221(5):278-85. PubMed ID: 19707989
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Unusual clinical presentations of familial hemophagocytic lymphohistiocytosis type-2.
    Mhatre S; Madkaikar M; Jijina F; Ghosh K
    J Pediatr Hematol Oncol; 2014 Nov; 36(8):e524-7. PubMed ID: 24390453
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [An analysis of etiological and genetic factors of a patient with familial hemophagocytic lymphohistiocytosis].
    Liu HX; Tong CR; Wang H; Zhu J; Wang F; Cai P; Teng W; Yang JF; Zhang YL; Lu DP
    Zhonghua Nei Ke Za Zhi; 2011 Feb; 50(2):132-5. PubMed ID: 21418834
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imaging.
    van Egmond ME; Vermeulen RJ; Peeters-Scholte CM; Augoustides-Savvopoulou P; Abbink F; Boelens JJ; van der Knaap MS
    Neuropediatrics; 2011 Oct; 42(5):191-3. PubMed ID: 21959744
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.