19487666 17266056 17873118 27896523 15632205 26199792[uid] - Search Results

Year	Number of Results
2005	1
2007	2
2008	1
2009	1
2015	1
2016	1
2017	1
2024	0

1

Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer.

Chia J, Yeo KP, Whisstock JC, Dunstone MA, Trapani JA, Voskoboinik I. Chia J, et al. Proc Natl Acad Sci U S A. 2009 Jun 16;106(24):9809-14. doi: 10.1073/pnas.0903815106. Epub 2009 Jun 1. Proc Natl Acad Sci U S A. 2009. PMID: 19487666 Free PMC article.

2

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. Ueda I, et al. Am J Hematol. 2007 Jun;82(6):427-32. doi: 10.1002/ajh.20878. Am J Hematol. 2007. PMID: 17266056 Free article.

3

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.

Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter JI, Griffiths G, Santoro A, Filipovich A, Aricò M; Histiocyte Society HLH Study group. Trizzino A, et al. J Med Genet. 2008 Jan;45(1):15-21. doi: 10.1136/jmg.2007.052670. Epub 2007 Sep 14. J Med Genet. 2008. PMID: 17873118

4

A CD57⁺ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients.

Hori M, Yasumi T, Shimodera S, Shibata H, Hiejima E, Oda H, Izawa K, Kawai T, Ishimura M, Nakano N, Shirakawa R, Nishikomori R, Takada H, Morita S, Horiuchi H, Ohara O, Ishii E, Heike T. Hori M, et al. J Clin Immunol. 2017 Jan;37(1):92-99. doi: 10.1007/s10875-016-0357-3. Epub 2016 Nov 28. J Clin Immunol. 2017. PMID: 27896523

5

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. Ishii E, et al. Blood. 2005 May 1;105(9):3442-8. doi: 10.1182/blood-2004-08-3296. Epub 2005 Jan 4. Blood. 2005. PMID: 15632205 Free article.

6

Familial Hemophagocytic Lymphohistiocytosis Presenting as Hydrops Fetalis.

Iwatani S, Uemura K, Mizobuchi M, Yoshimoto S, Kawasaki K, Kosaka Y, Hori M, Yasumi T, Nakao H. Iwatani S, et al. AJP Rep. 2015 Apr;5(1):e22-4. doi: 10.1055/s-0034-1544110. Epub 2015 Mar 4. AJP Rep. 2015. PMID: 26199792 Free PMC article.

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