130 related articles for article (PubMed ID: 37390248)
1. Familial hemophagocytic phohistiocytosis induced by PRF1 mutation with neurologic manifestations as the initial clinical presentations: A case report.
You Y; Wu W; Li B
Medicine (Baltimore); 2023 Jun; 102(26):e34198. PubMed ID: 37390248
[TBL] [Abstract][Full Text] [Related]
2. Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis-the initial phenotype of PRF1 gene mutation.
Hu LY; Wan L; Wang QH; Shi XY; Meng Y; Yang XF; Yang G; Zou LP
Front Immunol; 2023; 14():1306338. PubMed ID: 38149249
[TBL] [Abstract][Full Text] [Related]
3. Type 2 familial hemophagocytic lymphohistiocytosis in half brothers: A case report.
Liu C; Li M; Wu X; Yao X; Zhao L
Medicine (Baltimore); 2018 Jul; 97(30):e11577. PubMed ID: 30045285
[TBL] [Abstract][Full Text] [Related]
4. Neurologic Manifestations as Initial Clinical Presentation of Familial Hemophagocytic Lymphohistiocytosis Type2 Due to
Feng WX; Yang XY; Li JW; Gong S; Wu Y; Zhang WH; Han TL; Zhuo XW; Ding CH; Fang F
Front Genet; 2020; 11():126. PubMed ID: 32194620
[TBL] [Abstract][Full Text] [Related]
5. Predominant Neurologic Manifestations Seen in a Patient With a Biallelic Perforin1 Mutation (PRF1; p.R225W).
Madkaikar M; Gupta M; Dixit A; Patil V
J Pediatr Hematol Oncol; 2017 Mar; 39(2):143-146. PubMed ID: 27271812
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis.
Bordbar MR; Modarresi F; Farazi Fard MA; Dastsooz H; Shakib Azad N; Faghihi MA
BMC Med Genet; 2017 May; 18(1):49. PubMed ID: 28468610
[TBL] [Abstract][Full Text] [Related]
8. [Analysis of clinical phenotype and genetic mutations of a pedigree of familial hemophagocytic lymphohistiocytosis].
Sun S; Guo X; Zhu Y; Yang X; Li Q; Gao J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct; 31(5):570-3. PubMed ID: 25297583
[TBL] [Abstract][Full Text] [Related]
9. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) patients in India.
Mhatre S; Madkaikar M; Desai M; Ghosh K
Blood Cells Mol Dis; 2015 Mar; 54(3):250-7. PubMed ID: 25577959
[TBL] [Abstract][Full Text] [Related]
10. Hematopoietic stem cell transplantation of an adolescent with neurological manifestations of homozygous missense PRF1 mutation.
Hussein AA; Hamadah T; Qandeel M; Sughayer M; Amarin R; Mansour A; Chiang SC; Al-Zaben A; Meeths M; Bryceson YT
Pediatr Blood Cancer; 2014 Dec; 61(12):2313-5. PubMed ID: 25110876
[TBL] [Abstract][Full Text] [Related]
11. RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Shi Y; Qiao Z; Bi X; Zhang C; Fu J; Jia Y; Yang G
Pharmgenomics Pers Med; 2021; 14():1637-1645. PubMed ID: 34938098
[TBL] [Abstract][Full Text] [Related]
12. Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.
Tesi B; Chiang SC; El-Ghoneimy D; Hussein AA; Langenskiöld C; Wali R; Fadoo Z; Silva JP; Lecumberri R; Unal S; Nordenskjöld M; Bryceson YT; Henter JI; Meeths M
Pediatr Blood Cancer; 2015 Dec; 62(12):2094-100. PubMed ID: 26184781
[TBL] [Abstract][Full Text] [Related]
13. Adult onset type 2 familial hemophagocytic lymphohistiocytosis with
Liu XY; Nie YB; Chen XJ; Gao XH; Zhai LJ; Min FL
World J Clin Cases; 2021 Apr; 9(10):2289-2295. PubMed ID: 33869605
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study.
Almalky MA; Saleh SHA; Baz EG; Fakhr AE
Pan Afr Med J; 2020; 36():354. PubMed ID: 33224420
[TBL] [Abstract][Full Text] [Related]
17. The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.
Shabrish S; Kelkar M; Yadav RM; Bargir UA; Gupta M; Dalvi A; Aluri J; Kulkarni M; Shinde S; Sawant-Desai S; Kambli P; Hule G; Setia P; Jodhawat N; Gaikwad P; Dhawale A; Nambiar N; Gowri V; Pandrowala A; Taur P; Raj R; Uppuluri R; Sharma R; Kini P; Sivasankaran M; Munirathnam D; Vedam R; Vignesh P; Banday A; Rawat A; Aggarwal A; Poddar U; Girish M; Chaudhary A; Sampagar A; Jayaraman D; Chaudhary N; Shah N; Jijina F; Chandrakla S; Kanakia S; Arora B; Sen S; Lokeshwar M; Desai M; Madkaikar M
Front Immunol; 2021; 12():612583. PubMed ID: 33746956
[TBL] [Abstract][Full Text] [Related]
18. [The significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis].
Zhang J; Wang YN; Wang JS; Wu L; Wei N; Fu L; Gao Z; Chen JH; Pei RJ; Wang Z
Zhonghua Xue Ye Xue Za Zhi; 2016 Jul; 37(7):565-70. PubMed ID: 27535855
[TBL] [Abstract][Full Text] [Related]
19. UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis.
Yoon HS; Kim HJ; Yoo KH; Sung KW; Koo HH; Kang HJ; Shin HY; Ahn HS; Kim JY; Lim YT; Bae KW; Lee KO; Shin JS; Lee ST; Chung HS; Kim SH; Park CJ; Chi HS; Im HJ; Seo JJ
Haematologica; 2010 Apr; 95(4):622-6. PubMed ID: 20015888
[TBL] [Abstract][Full Text] [Related]
20. First case of very late-onset FHL2 in Spain with two variants in the PRF1 gene.
Sienes Bailo P; Goñi Ros N; Menéndez Jándula B; Álvarez Alegret R; González Gómez E; González Tarancón R; Izquierdo Álvarez S
Ann Clin Biochem; 2023 Sep; 60(5):356-364. PubMed ID: 37365821
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
