422 related articles for article (PubMed ID: 19058215)
1. Fatal hemophagocytic lymphohistiocytosis in X-linked chronic granulomatous disease associated with a perforin gene variant.
van Montfrans JM; Rudd E; van de Corput L; Henter JI; Nikkels P; Wulffraat N; Boelens JJ
Pediatr Blood Cancer; 2009 Apr; 52(4):527-9. PubMed ID: 19058215
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. PubMed ID: 17652853
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 17993578
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects.
Zhang K; Johnson JA; Biroschak J; Villanueva J; Lee SM; Bleesing JJ; Risma KA; Wenstrup RJ; Filipovich AH
Int J Immunogenet; 2007 Aug; 34(4):231-3. PubMed ID: 17627755
[No Abstract] [Full Text] [Related]
7. 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]
8. 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]
9. Chronic granulomatous disease in Latin American patients: clinical spectrum and molecular genetics.
Agudelo-Flórez P; Prando-Andrade CC; López JA; Costa-Carvalho BT; Quezada A; Espinosa FJ; de Souza Paiva MA; Roxo P; Grumach A; Jacob CA; Carneiro-Sampaio MM; Newburger PE; Condino-Neto A
Pediatr Blood Cancer; 2006 Feb; 46(2):243-52. PubMed ID: 16123991
[TBL] [Abstract][Full Text] [Related]
10. X-linked chronic granulomatous disease: first report of mutations in patients of Argentina.
Barese C; Copelli S; Zandomeni R; Oleastro M; Zelazko M; Rivas EM
J Pediatr Hematol Oncol; 2004 Oct; 26(10):656-60. PubMed ID: 15454837
[TBL] [Abstract][Full Text] [Related]
11. Characterization of 17 new cases of X-linked chronic granulomatous disease with seven novel mutations in the CYBB gene.
von Goessel H; Hossle JP; Seger R; Gungor T
Exp Hematol; 2006 Apr; 34(4):528-35. PubMed ID: 16569599
[TBL] [Abstract][Full Text] [Related]
12. Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.
Zhizhuo H; Junmei X; Yuelin S; Qiang Q; Chunyan L; Zhengde X; Kunling S
Pediatr Blood Cancer; 2012 Mar; 58(3):410-4. PubMed ID: 21674762
[TBL] [Abstract][Full Text] [Related]
13. Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis.
Nagafuji K; Nonami A; Kumano T; Kikushige Y; Yoshimoto G; Takenaka K; Shimoda K; Ohga S; Yasukawa M; Horiuchi H; Ishii E; Harada M
Haematologica; 2007 Jul; 92(7):978-81. PubMed ID: 17606450
[TBL] [Abstract][Full Text] [Related]
14. The search for a genetic defect in Polish patients with chronic granulomatous disease.
Jurkowska M; Kurenko-Deptuch M; Bal J; Roos D
Arch Immunol Ther Exp (Warsz); 2004; 52(6):441-6. PubMed ID: 15577746
[TBL] [Abstract][Full Text] [Related]
15. Prenatal diagnosis of chronic granulomatous disease in a male fetus.
Yavuz Köker M; Metin A; Ozgür TT; de Boer M; Roos D
Iran J Allergy Asthma Immunol; 2009 Mar; 8(1):57-61. PubMed ID: 19279361
[TBL] [Abstract][Full Text] [Related]
16. Fatal Epstein-Barr virus infection in a case of familial hemophagocytic lymphohistiocytosis with syntaxin-11 mutation.
Albayrak M; Kaya Z; Yilmaz-Keskin E; Stadt UZ; Koçak U; Gürsel T
Turk J Pediatr; 2009; 51(4):371-4. PubMed ID: 19950846
[TBL] [Abstract][Full Text] [Related]
17. Molecular characterization of a novel splice site mutation within the CYBB gene leading to X-linked chronic granulomatous disease.
Barese CN; Copelli SB; De Matteo E; Zandomeni R; Salgueiro F; Di Giovanni D; Heyworth P; Rivas EM
Pediatr Blood Cancer; 2005 Apr; 44(4):420-2. PubMed ID: 15468310
[TBL] [Abstract][Full Text] [Related]
18. Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis.
Vermeulen MJ; de Haas V; Mulder MF; Flohil C; Fetter WP; van de Kamp JM
Eur J Med Genet; 2009; 52(6):417-20. PubMed ID: 19595804
[TBL] [Abstract][Full Text] [Related]
19. Remission and relapse of hemophagocytic lymphohistiocytosis in a patient harboring a PRF1 homozygous mutation: a case report.
Huang Z; Wang Y; Xie Z; Shen K
J Pediatr Hematol Oncol; 2014 Jan; 36(1):e5-8. PubMed ID: 23073044
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 16278825
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]