BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

361 related articles for article (PubMed ID: 31914974)

  • 1. Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency.
    Deng J; Li D; Mei H; Tang L; Wang HF; Hu Y
    BMC Med Genet; 2020 Jan; 21(1):9. PubMed ID: 31914974
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations.
    Katona É; Muszbek L; Devreese K; Kovács KB; Bereczky Z; Jonkers M; Shemirani AH; Mondelaers V; Ermens AA
    Haemophilia; 2014 Jan; 20(1):114-20. PubMed ID: 24118344
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA.
    Mikkola H; Muszbek L; Laiho E; Syrjälä M; Hämäläinen E; Haramura G; Salmi T; Peltonen L; Palotie A
    Blood; 1997 Feb; 89(4):1279-87. PubMed ID: 9028951
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations.
    Borhany M; Handrkova H; Cairo A; Schroeder V; Fatima N; Naz A; Amanat S; Shamsi T; Peyvandi F; Kohler HP
    Haemophilia; 2014 Jul; 20(4):568-74. PubMed ID: 24329762
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Identification of genetic defects in a Chinese pedigree with factor XIII deficiency: case report and literature review].
    Xu G; Liang Q; Zhang L; Shen Y; Ding Q; Wang X; Wang H
    Zhonghua Xue Ye Xue Za Zhi; 2015 Oct; 36(10):844-8. PubMed ID: 26477763
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency.
    Jang MA; Park YS; Lee KO; Kim HJ
    Blood Coagul Fibrinolysis; 2015 Jan; 26(1):46-9. PubMed ID: 25004025
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A
    Ivaškevičius V; Biswas A; Garly ML; Oldenburg J
    Haemophilia; 2017 May; 23(3):e194-e203. PubMed ID: 28520207
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular modeling predicts structural changes in the A subunit of factor XIII caused by two novel mutations identified in a neonate with severe congenital factor XIII deficiency.
    Souri M; Yee VC; Fujii N; Ichinose A
    Thromb Res; 2012 Sep; 130(3):506-10. PubMed ID: 22633530
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel Cys328-terminator mutant implicated in severe coagulation factor XIII deficiency: a case report.
    Cai R; Li Y; Wang W; Feng Q
    BMC Med Genet; 2020 Sep; 21(1):175. PubMed ID: 32883222
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement.
    Ma S; Chen C; Liang Q; Wu X; Wang X; Wu W; Liu Y; Ding Q
    Orphanet J Rare Dis; 2019 Jul; 14(1):182. PubMed ID: 31340840
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations.
    Shanbhag S; Ghosh K; Shetty S
    Blood Cells Mol Dis; 2016 Mar; 57():81-4. PubMed ID: 26852661
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Homozygous intronic mutation leading to inefficient transcription combined with a novel frameshift mutation in F13A1 gene causes FXIII deficiency.
    Wang W; Huang L; Ma Q; Xiao D; Chen X; Yang Z; Wang X; Zhou K; Li G; Xiao M; Du G; Hao X; Cai W
    J Hum Genet; 2011 Jun; 56(6):460-3. PubMed ID: 21512576
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A common F13A1 intron 1 variant IVS1+12(A) is associated with mild FXIII deficiency in Caucasian population.
    Ivaskevicius V; Biswas A; Thomas A; Lyonga S; Rott H; Halimeh S; Kappert G; Klammroth R; Scholz U; Eberl W; Harbrecht U; Gnida C; Hertfelder HJ; Marquardt N; Oldenburg J
    Ann Hematol; 2013 Jul; 92(7):975-9. PubMed ID: 23508224
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Factor XIII deficiency in two Spanish families with a novel variant in gene F13A1 detected by next-generation sequencing; symptoms and clinical management.
    Moret A; Zúñiga Á; Ayala JM; Liquori A; Cid AR; Haya S; Ferrando F; Blanquer A; Cervera J; Bonanad S
    J Thromb Thrombolysis; 2020 Oct; 50(3):686-688. PubMed ID: 32060721
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Identification of a novel mutation of F (13) A gene in a pedigree with factor XIII deficiency].
    Jiao WY; Wu JS; Ding QL; Wang XF; Xu XC; Ding KY; Liu X
    Zhonghua Xue Ye Xue Za Zhi; 2007 Sep; 28(9):598-601. PubMed ID: 18246815
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Segmental uniparental disomy as a rare cause of congenital severe factor XIII deficiency in a girl with only one heterozygous carrier parent.
    Shen MC; Chen M; Chang SP; Lin PT; Hsieh HN; Lin KH
    Pediatr Hematol Oncol; 2018; 35(7-8):442-446. PubMed ID: 30702381
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit.
    Mikkola H; Yee VC; Syrjälä M; Seitz R; Egbring R; Petrini P; Ljung R; Ingerslev J; Teller DC; Peltonen L; Palotie A
    Blood; 1996 Jan; 87(1):141-51. PubMed ID: 8547636
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of a novel mutation in the factor XIII A subunit in a patient with inherited factor XIII deficiency.
    Yan L; Wang T; Qiu J; Zhang X; Peng J; Fang Y; Sheng Z
    Int J Hematol; 2023 Jul; 118(1):26-35. PubMed ID: 37059930
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Severe congenital factor XIII deficiency caused by novel W187X and G273V mutations in the F13A gene; diagnosis and classification according to the ISTH/SSC guidelines.
    Souri M; Biswas A; Misawa M; Omura H; Ichinose A
    Haemophilia; 2014 Mar; 20(2):255-62. PubMed ID: 24286209
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Factor XIII deficiency enhances thrombin generation due to impaired fibrin polymerization - An effect corrected by Factor XIII replacement.
    Pitkänen HH; Jouppila A; Lemponen M; Ilmakunnas M; Ahonen J; Lassila R
    Thromb Res; 2017 Jan; 149():56-61. PubMed ID: 27902939
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.