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Results: 1 to 20 of 106

1.

Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosis.

Sumegi J, Nestheide SV, Barnes MG, Villanueva J, Zhang K, Grom AA, Filipovich AH.

Blood. 2013 Feb 14;121(7):e14-24. doi: 10.1182/blood-2012-05-425769. Epub 2012 Dec 20.

PMID:
23264592
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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 30;5(11):e14173. doi: 10.1371/journal.pone.0014173.

PMID:
21152410
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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]
4.

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]
5.

Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis.

Sumegi J, Barnes MG, Nestheide SV, Molleran-Lee S, Villanueva J, Zhang K, Risma KA, Grom AA, Filipovich AH.

Blood. 2011 Apr 14;117(15):e151-60. doi: 10.1182/blood-2010-08-300046. Epub 2011 Feb 16.

PMID:
21325597
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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]
Free PMC Article
7.

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]
8.

Down-regulation of CD5 expression on activated CD8+ T cells in familial hemophagocytic lymphohistiocytosis with perforin gene mutations.

Wada T, Sakakibara Y, Nishimura R, Toma T, Ueno Y, Horita S, Tanaka T, Nishi M, Kato K, Yasumi T, Ohara O, Yachie A.

Hum Immunol. 2013 Dec;74(12):1579-85. doi: 10.1016/j.humimm.2013.09.001. Epub 2013 Sep 16.

PMID:
24051121
[PubMed - indexed for MEDLINE]
9.

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]
10.

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.

PMID:
17356398
[PubMed - indexed for MEDLINE]
11.

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. doi: 10.1097/MPH.0000000000000102.

PMID:
24390453
[PubMed - indexed for MEDLINE]
12.

Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis.

Zhang K, Chandrakasan S, Chapman H, Valencia CA, Husami A, Kissell D, Johnson JA, Filipovich AH.

Blood. 2014 Aug 21;124(8):1331-4. doi: 10.1182/blood-2014-05-573105. Epub 2014 Jun 10.

PMID:
24916509
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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 Oct;143(1):75-83. doi: 10.1111/j.1365-2141.2008.07315.x. Epub 2008 Aug 15.

PMID:
18710388
[PubMed - indexed for MEDLINE]
14.

Analyses of the PRF1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in Colombian unrelated families associated with late onset disease.

Sánchez IP, Leal-Esteban LC, Álvarez-Álvarez JA, Pérez-Romero CA, Orrego JC, Serna ML, Coll Y, Caicedo Y, Pardo-Díaz E, Zimmer J, Bleesing JJ, Franco JL, Trujillo-Vargas CM.

J Clin Immunol. 2012 Aug;32(4):670-80. doi: 10.1007/s10875-012-9680-5. Epub 2012 Mar 22.

PMID:
22437823
[PubMed - indexed for MEDLINE]
15.

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]
Free Article
16.

Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.

Rohr J, Beutel K, Maul-Pavicic A, Vraetz T, Thiel J, Warnatz K, Bondzio I, Gross-Wieltsch U, Schündeln M, Schütz B, Woessmann W, Groll AH, Strahm B, Pagel J, Speckmann C, Janka G, Griffiths G, Schwarz K, zur Stadt U, Ehl S.

Haematologica. 2010 Dec;95(12):2080-7. doi: 10.3324/haematol.2010.029389. Epub 2010 Sep 7.

PMID:
20823128
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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]
18.

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.

Cetica V, Santoro A, Gilmour KC, Sieni E, Beutel K, Pende D, Marcenaro S, Koch F, Grieve S, Wheeler R, Zhao F, zur Stadt U, Griffiths GM, Aricò M.

J Med Genet. 2010 Sep;47(9):595-600. doi: 10.1136/jmg.2009.075341.

PMID:
20798128
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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.

PMID:
16358309
[PubMed - indexed for MEDLINE]
20.

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. doi: 10.3324/haematol.2009.016949. Epub 2009 Dec 16.

PMID:
20015888
[PubMed - indexed for MEDLINE]
Free PMC Article
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