BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 32542393)

  • 1. Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
    Gadoury-Levesque V; Dong L; Su R; Chen J; Zhang K; Risma KA; Marsh RA; Sun M
    Blood Adv; 2020 Jun; 4(12):2578-2594. PubMed ID: 32542393
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis.
    Xinh PT; Chuong HQ; Diem TPH; Nguyen TM; Van ND; Mai Anh NH; Nghia H; Vu HA
    Int J Lab Hematol; 2021 Dec; 43(6):1524-1530. PubMed ID: 34339548
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis.
    Mukda E; Trachoo O; Pasomsub E; Tiyasirichokchai R; Iemwimangsa N; Sosothikul D; Chantratita W; Pakakasama S
    Int J Hematol; 2017 Aug; 106(2):282-290. PubMed ID: 28353193
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.
    Chen X; Wang F; Zhang Y; Teng W; Wang M; Nie D; Zhou X; Wang D; Zhao H; Zhu P; Liu H
    Clin Genet; 2018 Aug; 94(2):200-212. PubMed ID: 29665027
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH.
    Liu D; Hu X; Jiang X; Gao B; Wan C; Chen C
    BMC Med Genet; 2017 Nov; 18(1):135. PubMed ID: 29157204
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients.
    Bąbol-Pokora K; Wołowiec M; Popko K; Jaworowska A; Bryceson YT; Tesi B; Henter JI; Młynarski W; Badowska W; Balwierz W; Drabko K; Kałwak K; Maciejka-Kembłowska L; Pieczonka A; Sobol-Milejska G; Kołtan S; Malinowska I;
    Arch Immunol Ther Exp (Warsz); 2021 Oct; 69(1):31. PubMed ID: 34677667
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Familial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases.
    Sadeghi P; Esslami GG; Rokni-Zadeh H; Changi-Ashtiani M; Mohsenipour R
    BMC Pediatr; 2022 Nov; 22(1):667. PubMed ID: 36401200
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pathogenic Gene Mutations or Variants Identified by Targeted Gene Sequencing in Adults With Hemophagocytic Lymphohistiocytosis.
    Miao Y; Zhu HY; Qiao C; Xia Y; Kong Y; Zou YX; Miao YQ; Chen X; Cao L; Wu W; Liang JH; Wu JZ; Wang L; Fan L; Xu W; Li JY
    Front Immunol; 2019; 10():395. PubMed ID: 30899265
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pediatric hemophagocytic lymphohistiocytosis.
    Canna SW; Marsh RA
    Blood; 2020 Apr; 135(16):1332-1343. PubMed ID: 32107531
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12.
    Benavides N; Spessott WA; Sanmillan ML; Vargas M; Livingston MS; Erickson N; Pozos TC; McCormick ME; Scharrig E; Messinger YH; Giraudo CG
    Front Immunol; 2020; 11():545414. PubMed ID: 33162974
    [TBL] [Abstract][Full Text] [Related]  

  • 13. SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis.
    Yang X; Miyawaki T; Kanegane H
    Pediatr Int; 2012 Aug; 54(4):447-54. PubMed ID: 22672194
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [The study of gene mutations in unknown refractory viral infection and primary hemophagocytic lymphohistiocytosis].
    Tong CR; Liu HX; Xie JJ; Wang F; Cai P; Wang H; Zhu J; Teng W; Zhang X; Yang JF; Zhang YL; Fei XH; Zhao J; Yin YM; Wu T; Wang JB; Sun Y; Liu R; Shi XD; Lu DP
    Zhonghua Nei Ke Za Zhi; 2011 Apr; 50(4):280-3. PubMed ID: 21600143
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report.
    Hu X; Liu D; Jiang X; Gao B; Chen C
    BMC Med Genet; 2018 May; 19(1):82. PubMed ID: 29783935
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China.
    Jin Z; Wang Y; Wang J; Zhang J; Wu L; Gao Z; Lai W; Wang Z
    Orphanet J Rare Dis; 2018 Jan; 13(1):17. PubMed ID: 29357941
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [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]  

  • 18. 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]  

  • 19. 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]  

  • 20. Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a review.
    Sheth J; Patel A; Shah R; Bhavsar R; Trivedi S; Sheth F
    BMC Pediatr; 2019 Mar; 19(1):73. PubMed ID: 30849948
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.