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Items: 1 to 20 of 165

1.

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 3;286(5446):1957-9.

2.

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.

Göransdotter Ericson K, Fadeel B, Nilsson-Ardnor S, Söderhäll C, Samuelsson A, Janka G, Schneider M, Gürgey A, Yalman N, Révész T, Egeler R, Jahnukainen K, Storm-Mathiesen I, Haraldsson A, Poole J, de Saint Basile G, Nordenskjöld M, Henter J.

Am J Hum Genet. 2001 Mar;68(3):590-7. Epub 2001 Feb 6.

3.

Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.

Feldmann J, Le Deist F, Ouachée-Chardin M, Certain S, Alexander S, Quartier P, Haddad E, Wulffraat N, Casanova JL, Blanche S, Fischer A, de Saint Basile G.

Br J Haematol. 2002 Jun;117(4):965-72.

PMID:
12060139
4.

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.

5.

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. Epub 2002 Oct 11.

PMID:
12483306
6.

The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene.

Voskoboinik I, Thia MC, De Bono A, Browne K, Cretney E, Jackson JT, Darcy PK, Jane SM, Smyth MJ, Trapani JA.

J Exp Med. 2004 Sep 20;200(6):811-6. Epub 2004 Sep 14.

7.

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 1;105(7):2658-63. Epub 2004 Dec 14.

9.
10.

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. Review.

PMID:
15718147
11.

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.

PMID:
11841437
12.

Familial hemophagocytic lymphohistiocytosis: too little cell death can seriously damage your health.

Fadeel B, Orrenius S, Henter JI.

Leuk Lymphoma. 2001 Jun;42(1-2):13-20. Review.

PMID:
11699200
13.

Perforin and lymphohistiocytic proliferative disorders.

Katano H, Cohen JI.

Br J Haematol. 2005 Mar;128(6):739-50. Review.

PMID:
15755277
14.

An inframe perforin gene deletion in familial hemophagocytic lymphohistiocytosis is associated with perforin expression.

Muralitharan S, Al Lamki Z, Dennison D, Christie BS, Wali YA, Zachariah M, Romana M, Bayoumi R, Krishnamoorthy R.

Am J Hematol. 2005 Jan;78(1):59-63.

15.

Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members.

Kogawa K, Lee SM, Villanueva J, Marmer D, Sumegi J, Filipovich AH.

Blood. 2002 Jan 1;99(1):61-6.

17.

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.

18.

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.

zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI, Kabisch H, Schneppenheim R, Nürnberg P, Janka G, Hennies HC.

Hum Mol Genet. 2005 Mar 15;14(6):827-34. Epub 2005 Feb 9.

PMID:
15703195
19.

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
20.

[Familial hemophagocytic lymphohistiocytosis(FHL)].

Kawa K.

Ryoikibetsu Shokogun Shirizu. 2000;(32):553-6. Review. Japanese. No abstract available.

PMID:
11212803

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