BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

180 related articles for article (PubMed ID: 15755897)

  • 21. Gene abnormalities in patients with hemophagocytic lymphohistiocytosis.
    Grunebaum E; Roifman CM
    Isr Med Assoc J; 2002 May; 4(5):366-9. PubMed ID: 12040827
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations.
    Clementi R; Emmi L; Maccario R; Liotta F; Moretta L; Danesino C; Aricó M
    Blood; 2002 Sep; 100(6):2266-7. PubMed ID: 12229880
    [No Abstract]   [Full Text] [Related]  

  • 23. Prenatal diagnosis of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHLH).
    zur Stadt U; Pruggmayer M; Jung H; Henter JI; Schneider M; Kabisch H; Janka G
    Prenat Diagn; 2002 Jan; 22(1):80-1. PubMed ID: 11810660
    [No Abstract]   [Full Text] [Related]  

  • 24. Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity.
    Feldmann J; Ménasché G; Callebaut I; Minard-Colin V; Bader-Meunier B; Le Clainche L; Fischer A; Le Deist F; Tardieu M; de Saint Basile G
    Blood; 2005 Apr; 105(7):2658-63. PubMed ID: 15598808
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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; 62(12):2094-100. PubMed ID: 26184781
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.
    Risma KA; Frayer RW; Filipovich AH; Sumegi J
    J Clin Invest; 2006 Jan; 116(1):182-92. PubMed ID: 16374518
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group.
    Mehta PA; Davies SM; Kumar A; Devidas M; Lee S; Zamzow T; Elliott J; Villanueva J; Pullen J; Zewge Y; Filipovich A;
    Leukemia; 2006 Sep; 20(9):1539-41. PubMed ID: 16791263
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.
    Clementi R; zur Stadt U; Savoldi G; Varoitto S; Conter V; De Fusco C; Notarangelo LD; Schneider M; Klersy C; Janka G; Danesino C; Aricò M
    J Med Genet; 2001 Sep; 38(9):643-6. PubMed ID: 11565555
    [No Abstract]   [Full Text] [Related]  

  • 30. Perforin deficiency and familial hemophagocytic lymphohistiocytosis.
    Zipursky A
    Pediatr Res; 2001 Jan; 49(1):3. PubMed ID: 11134481
    [No Abstract]   [Full Text] [Related]  

  • 31. A91V perforin variation in healthy subjects and FHLH patients.
    Busiello R; Fimiani G; Miano MG; Aricò M; Santoro A; Ursini MV; Pignata C
    Int J Immunogenet; 2006 Apr; 33(2):123-5. PubMed ID: 16611257
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Acute inflammatory demyelinating polyradiculoneuropathy associated with perforin-deficient familial haemophagocytic lymphohistiocytosis.
    Del Giudice E; Savoldi G; Notarangelo LD; Di Benedetto L; Manganelli F; Bruzzese E; Romano A; Santoro L
    Acta Paediatr; 2003; 92(3):398-401. PubMed ID: 12725560
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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; 90(5):697-8. PubMed ID: 15921391
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis.
    Ericson KG; Fadeel B; Andersson M; Gudmundsson GH; Gürgey A; Yalman N; Janka G; Nordenskjöld M; Henter JI
    Hum Genet; 2003 Jan; 112(1):98-9. PubMed ID: 12483306
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression.
    Aricò M; Allen M; Brusa S; Clementi R; Pende D; Maccario R; Moretta L; Danesino C
    Br J Haematol; 2002 Oct; 119(1):180-8. PubMed ID: 12358924
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. No mutations of SAP/SH2D1A/DSHP and perforin genes in patients with Epstein-Barr virus-associated hemophagocytic syndrome in Japan.
    Ma X; Okamura A; Yosioka M; Ishiguro N; Kikuta H; Kobayashi K
    J Med Virol; 2001 Oct; 65(2):358-61. PubMed ID: 11536244
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
    Zhang K; Jordan MB; Marsh RA; Johnson JA; Kissell D; Meller J; Villanueva J; Risma KA; Wei Q; Klein PS; Filipovich AH
    Blood; 2011 Nov; 118(22):5794-8. PubMed ID: 21881043
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 9.