228 related articles for article (PubMed ID: 18190960)
1. Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations.
Okur H; Balta G; Akarsu N; Oner A; Patiroglu T; Bay A; Sayli T; Unal S; Gurgey A
Leuk Res; 2008 Jun; 32(6):972-5. PubMed ID: 18190960
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 17993578
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 17266056
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 16365863
[TBL] [Abstract][Full Text] [Related]
5. 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;
J Med Genet; 2008 Jan; 45(1):15-21. PubMed ID: 17873118
[TBL] [Abstract][Full Text] [Related]
6. Novel spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis in ethnic Omani patients.
Muralitharan S; Wali YA; Dennison D; Lamki ZA; Zachariah M; Nagwa el B; Pathare A; Krishnamoorthy R
Am J Hematol; 2007 Dec; 82(12):1099-102. PubMed ID: 17674359
[TBL] [Abstract][Full Text] [Related]
7. Central nervous system involvement in a case of familial hemophagocytic lymphohistiocytosis with perforin mutation.
Akbayram S; Akgun C; Dogan M; Caksen H; Okur H; Oner AF
Genet Couns; 2011; 22(3):281-5. PubMed ID: 22029169
[TBL] [Abstract][Full Text] [Related]
8. 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
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 16956828
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 17652853
[TBL] [Abstract][Full Text] [Related]
11. Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation.
Balta G; Okur H; Unal S; Yarali N; Gunes AM; Unal S; Turker M; Guler E; Ertem M; Albayrak M; Patiroglu T; Gurgey A
Leuk Res; 2010 Aug; 34(8):1012-7. PubMed ID: 20197201
[TBL] [Abstract][Full Text] [Related]
12. Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis.
Lu G; Xie ZD; Shen KL; Ye LJ; Wu RH; Liu CY; Jin YK; Yang S
Chin Med J (Engl); 2009 Dec; 122(23):2851-5. PubMed ID: 20092789
[TBL] [Abstract][Full Text] [Related]
13. 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; 14(6):827-34. PubMed ID: 15703195
[TBL] [Abstract][Full Text] [Related]
14. A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia?
Santoro A; Cannella S; Trizzino A; Lo Nigro L; Corsello G; Aricò M
Haematologica; 2005 May; 90(5):697-8. PubMed ID: 15921391
[TBL] [Abstract][Full Text] [Related]
15. Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations.
Köker MY; Sanal O; van Leeuwen K; de Boer M; Metin A; Patiroğlu T; Ozgür TT; Tezcan I; Roos D
Eur J Clin Invest; 2009 Oct; 39(10):942-51. PubMed ID: 19624736
[TBL] [Abstract][Full Text] [Related]
16. [Familial haemophagocytic lymphohistiocytosis caused by perforin deficit can be successfully treated by haematopoietic stem cell transplantation--the first diagnosed case in the Czech Republic].
Spísek R; Mejstríková E; Formánková R; Zizková H; Vávra V; Hrusák O; Sedivá A; Sedlácek P; Starý J
Cas Lek Cesk; 2006; 145(1):50-4. PubMed ID: 16468242
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 18710388
[TBL] [Abstract][Full Text] [Related]
18. Primary hemophagocytic lymphohistiocytosis in Turkish children.
Gürgey A; Göğüş S; Ozyürek E; Aslan D; Gümrük F; Cetin M; Yüce A; Ceyhan M; Seçmeer G; Yetgin S; Hiçsönmez G
Pediatr Hematol Oncol; 2003; 20(5):367-71. PubMed ID: 12775534
[TBL] [Abstract][Full Text] [Related]
19. Pathology of the liver in familial hemophagocytic lymphohistiocytosis.
Chen JH; Fleming MD; Pinkus GS; Pinkus JL; Nichols KE; Mo JQ; Perez-Atayde AR
Am J Surg Pathol; 2010 Jun; 34(6):852-67. PubMed ID: 20442642
[TBL] [Abstract][Full Text] [Related]
20. Neonatal primary hemophagocytic lymphohistiocytosis in Turkish children.
Gurgey A; Unal S; Okur H; Orhan D; Yurdakok M
J Pediatr Hematol Oncol; 2008 Dec; 30(12):871-6. PubMed ID: 19131769
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
