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Journal Abstract Search

281 related items for PubMed ID: 17873118

  • 21. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) patients in India.
    Mhatre S, Madkaikar M, Desai M, Ghosh K.
    Blood Cells Mol Dis; 2015 Mar; 54(3):250-7. PubMed ID: 25577959
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  • 22. Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.
    Vastert SJ, van Wijk R, D'Urbano LE, de Vooght KM, de Jager W, Ravelli A, Magni-Manzoni S, Insalaco A, Cortis E, van Solinge WW, Prakken BJ, Wulffraat NM, de Benedetti F, Kuis W.
    Rheumatology (Oxford); 2010 Mar; 49(3):441-9. PubMed ID: 20019066
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  • 23. 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
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  • 24. 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
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  • 25. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
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  • 26. Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
    Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H, Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J.
    Neurology; 2007 Jul 31; 69(5):442-7. PubMed ID: 17664403
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  • 29. 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 31; 22(7):863-8. PubMed ID: 17715280
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  • 31. 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 31; 91(9):1257-60. PubMed ID: 16956828
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  • 32. Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.
    Gao L, Dang X, Huang L, Zhu L, Fang M, Zhang J, Xu X, Zhu L, Li T, Zhao L, Wei J, Zhou J.
    Transl Res; 2016 Apr 31; 170():26-39. PubMed ID: 26739415
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  • 37. Hemophagocytic lymphohistiocytosis: when the immune system runs amok.
    Janka G.
    Klin Padiatr; 2009 Sep 31; 221(5):278-85. PubMed ID: 19707989
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  • 38. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.
    Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E.
    Hum Mutat; 2008 Nov 31; 29(11):E205-19. PubMed ID: 18642388
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  • 39. 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 31; 33(2):123-5. PubMed ID: 16611257
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