These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 36440336)

  • 1. Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis.
    Park JE; Lee T; Ha K; Cho EH; Ki CS
    Front Pediatr; 2022; 10():975665. PubMed ID: 36440336
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.
    Park JE; Lee T; Ha K; Ki CS
    Orphanet J Rare Dis; 2021 Apr; 16(1):166. PubMed ID: 33836803
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis.
    Cho EH; Park JE; Lee T; Ha K; Ki CS
    Orphanet J Rare Dis; 2022 Nov; 17(1):409. PubMed ID: 36352427
    [TBL] [Abstract][Full Text] [Related]  

  • 4. FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.
    Viñas-Giménez L; Padilla N; Batlle-Masó L; Casals F; Rivière JG; Martínez-Gallo M; de la Cruz X; Colobran R
    Front Immunol; 2020; 11():107. PubMed ID: 32076423
    [No Abstract]   [Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 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. Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis.
    Steen EA; Hermiston ML; Nichols KE; Meyer LK
    Front Immunol; 2021; 12():777851. PubMed ID: 34868048
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Impairment of Immune Function in Children with Familial Hemophagocytic Lymphohistiocytosis.
    Popko K; Jasińska J; Górska E; Demkow U; Balwierz W; Maciejka-Kembłowska L; Badowska W; Wachowiak J; Drabko K; Malinowska I
    Adv Exp Med Biol; 2016; 912():21-31. PubMed ID: 26987330
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis.
    Hannah WB; Seifert BA; Truty R; Zariwala MA; Ameel K; Zhao Y; Nykamp K; Gaston B
    Lancet Respir Med; 2022 May; 10(5):459-468. PubMed ID: 35051411
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Research advances in molecular genetics and treatment of familial hemophagocytic lymphohistiocytosis].
    Lv XQ; Hu J
    Zhongguo Dang Dai Er Ke Za Zhi; 2013 Nov; 15(11):965-9. PubMed ID: 24229589
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2.
    Seo JY; Lee KO; Yoo KH; Sung KW; Koo HH; Kim SH; Kang HJ; Park KD; Shin HY; Baek HJ; Kook H; Lyu CJ; Song JS; Lee MJ; Kim JY; Lim YT; Koh KN; Im HJ; Seo JJ; Kim HJ;
    Clin Genet; 2016 Feb; 89(2):222-7. PubMed ID: 26451869
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Chinese Infant with PRF1 Homozygous Mutation: a Case Report.
    Ji Q; Wang G; Xu W
    Clin Lab; 2020 Jul; 66(7):. PubMed ID: 32658436
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.
    Chinn IK; Eckstein OS; Peckham-Gregory EC; Goldberg BR; Forbes LR; Nicholas SK; Mace EM; Vogel TP; Abhyankar HA; Diaz MI; Heslop HE; Krance RA; Martinez CA; Nguyen TC; Bashir DA; Goldman JR; Stray-Pedersen A; Pedroza LA; Poli MC; Aldave-Becerra JC; McGhee SA; Al-Herz W; Chamdin A; Coban-Akdemir ZH; Jhangiani SN; Muzny DM; Cao TN; Hong DN; Gibbs RA; Lupski JR; Orange JS; McClain KL; Allen CE
    Blood; 2018 Jul; 132(1):89-100. PubMed ID: 29632024
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database.
    Schmitz MJ; Aarabi M; Bashar A; Rajkovic A; Gregg AR; Yatsenko SA
    Clin Genet; 2022 Aug; 102(2):87-97. PubMed ID: 35532184
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.