Similar articles for PMID: 11565555

Year	Number of Results
1994	1
1999	2
2000	7
2001	10
2002	10
2003	13
2004	10
2005	13
2006	12
2007	8
2008	5
2009	4
2010	2
2011	3
2012	2
2014	1
2015	2
2016	2
2017	1
2018	1
2019	1
2024	0

1

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. Clementi R, et al. J Med Genet. 2001 Sep;38(9):643-6. doi: 10.1136/jmg.38.9.643. J Med Genet. 2001. PMID: 11565555 Free PMC article. No abstract available.

2

Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.

Molleran Lee S, Villanueva J, Sumegi J, Zhang K, Kogawa K, Davis J, Filipovich AH. Molleran Lee S, et al. J Med Genet. 2004 Feb;41(2):137-44. doi: 10.1136/jmg.2003.011528. J Med Genet. 2004. PMID: 14757862 Free PMC article. No abstract available.

3

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.

4

Rapid LightCycler assay for identification of the perforin codon 374 Trp --> stop mutation in patients and families with hemophagocytic lymphohistiocytosis (HLH).

zur Stadt U, Kabisch H, Janka G, Schneider EM. zur Stadt U, et al. Med Pediatr Oncol. 2003 Jul;41(1):26-9. doi: 10.1002/mpo.10310. Med Pediatr Oncol. 2003. PMID: 12764739

5

Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.

Ueda I, Morimoto A, Inaba T, Yagi T, Hibi S, Sugimoto T, Sako M, Yanai F, Fukushima T, Nakayama M, Ishii E, Imashuku S. Ueda I, et al. Br J Haematol. 2003 May;121(3):503-10. doi: 10.1046/j.1365-2141.2003.04298.x. Br J Haematol. 2003. PMID: 12716377 Free article. Review.

6

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. Göransdotter Ericson K, et al. Am J Hum Genet. 2001 Mar;68(3):590-7. doi: 10.1086/318796. Epub 2001 Feb 6. Am J Hum Genet. 2001. PMID: 11179007 Free PMC article.

7

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. Feldmann J, et al. Br J Haematol. 2002 Jun;117(4):965-72. doi: 10.1046/j.1365-2141.2002.03534.x. Br J Haematol. 2002. PMID: 12060139 Free article.

8

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. Clementi R, et al. Blood. 2002 Sep 15;100(6):2266-7. doi: 10.1182/blood-2002-04-1030. Blood. 2002. PMID: 12229880 Free article. No abstract available.

9

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. Del Giudice E, et al. Acta Paediatr. 2003;92(3):398-401. Acta Paediatr. 2003. PMID: 12725560

10

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. Feldmann J, et al. Blood. 2005 Apr 1;105(7):2658-63. doi: 10.1182/blood-2004-09-3590. Epub 2004 Dec 14. Blood. 2005. PMID: 15598808 Free article.

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