BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

223 related articles for article (PubMed ID: 16443553)

  • 1. 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]  

  • 2. 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]  

  • 3. Successful treatment with liposteroid followed by reduced intensity stem cell transplantation in an infant with perforin deficiency presenting with hemophagocytic lymphohistiocytosis.
    Kobayashi Y; Salih HM; Kajiume T; Nakamura K; Miyagawa S; Sato T; Nishimura S; Kobayashi M
    J Pediatr Hematol Oncol; 2007 Mar; 29(3):178-82. PubMed ID: 17356398
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Sensorineural hearing loss in a case of familial hemophagocytic lymphohistiocytosis.
    Imashuku S; Kohdera U; Teramura T; Ueda I; Morimoto A; Naya M; Kuroda H
    Pediatr Blood Cancer; 2007 Nov; 49(6):856-8. PubMed ID: 16358309
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis.
    Yoon HS; Kim HJ; Yoo KH; Sung KW; Koo HH; Kang HJ; Shin HY; Ahn HS; Kim JY; Lim YT; Bae KW; Lee KO; Shin JS; Lee ST; Chung HS; Kim SH; Park CJ; Chi HS; Im HJ; Seo JJ
    Haematologica; 2010 Apr; 95(4):622-6. PubMed ID: 20015888
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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. PubMed ID: 16278825
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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; 20(8):603-9. PubMed ID: 14578030
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [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. PubMed ID: 16468242
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 53(3):209-23. PubMed ID: 15718147
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 116(2):346-9. PubMed ID: 11841437
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Familial hemophagocytic lymphohistiocytosis in a girl with a novel homozygous mutation of STX11: A case report.
    Guo X; Jiang M; Tang X; Li Q
    Medicine (Baltimore); 2019 Nov; 98(48):e18107. PubMed ID: 31770233
    [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. 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; 286(5446):1957-9. PubMed ID: 10583959
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.