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 *

196 related articles for article (PubMed ID: 12154809)

  • 1. First molecular characterization of an unequal homologous alu-mediated recombination event responsible for hemophilia.
    Vidal F; Farssac E; Tusell J; Puig L; Gallardo D
    Thromb Haemost; 2002 Jul; 88(1):12-6. PubMed ID: 12154809
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Homeologous recombination between AluSx-sequences as a cause of hemophilia.
    Rossetti LC; Goodeve A; Larripa IB; De Brasi CD
    Hum Mutat; 2004 Nov; 24(5):440. PubMed ID: 15459970
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene: a novel source of genomic instability.
    Suminaga R; Takeshima Y; Yasuda K; Shiga N; Nakamura H; Matsuo M
    J Hum Genet; 2000; 45(6):331-6. PubMed ID: 11185740
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Alu repeats and human disease.
    Deininger PL; Batzer MA
    Mol Genet Metab; 1999 Jul; 67(3):183-93. PubMed ID: 10381326
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Is Alu-mediated recombination an important cause of hemophilia?
    Sommer SS; Scaringe WA; Hill KA
    Thromb Haemost; 2002 Jul; 88(1):3-4. PubMed ID: 12152672
    [No Abstract]   [Full Text] [Related]  

  • 6. Identification of Alu-mediated, large deletion-spanning exons 2-4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency.
    Zhang G; Fukao T; Sakurai S; Yamada K; Michael Gibson K; Kondo N
    Mol Genet Metab; 2006 Nov; 89(3):222-6. PubMed ID: 16935016
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Severe hemophilia A due to a 1.3 kb factor VIII gene deletion including exon 24: homologous recombination between 41 bp within an Alu repeat sequence in introns 23 and 24.
    Nakaya SM; Hsu TC; Geraghty SJ; Manco-Johnson MJ; Thompson AR
    J Thromb Haemost; 2004 Nov; 2(11):1941-5. PubMed ID: 15550025
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel Alu-mediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regions.
    Xie F; Wang X; Cooper DN; Chuzhanova N; Fang Y; Cai X; Wang Z; Wang H
    Blood Cells Mol Dis; 2006; 36(3):385-91. PubMed ID: 16690331
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency).
    Fukao T; Zhang G; Aoki Y; Arai T; Teramoto T; Kaneko H; Sugie H; Kondo N
    Mol Genet Metab; 2007; 92(1-2):179-82. PubMed ID: 17581768
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Analysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A.
    Andrikovics H; Klein I; Bors A; Nemes L; Marosi A; Váradi A; Tordai A
    Haematologica; 2003 Jul; 88(7):778-84. PubMed ID: 12857556
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterisation of two novel large F8 deletions in patients with severe haemophilia A and factor VIII inhibitors.
    Roth L; Marschalek R; Oldenburg J; Oyen F; Schneppenheim R
    Thromb Haemost; 2011 Feb; 105(2):279-84. PubMed ID: 21103668
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome.
    Mizunuma M; Fujimori S; Ogino H; Ueno T; Inoue H; Kamatani N
    Hum Mutat; 2001 Nov; 18(5):435-43. PubMed ID: 11668636
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination?
    Hiltunen M; Helisalmi S; Mannermaa A; Alafuzoff I; Koivisto AM; Lehtovirta M; Pirskanen M; Sulkava R; Verkkoniemi A; Soininen H
    Eur J Hum Genet; 2000 Apr; 8(4):259-66. PubMed ID: 10854108
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease.
    Burwinkel B; Kilimann MW
    J Mol Biol; 1998 Apr; 277(3):513-7. PubMed ID: 9533876
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X-chromosomal rearrangements causing hemophilia A.
    Mühle C; Zenker M; Chuzhanova N; Schneider H
    Hum Mutat; 2007 Oct; 28(10):1045. PubMed ID: 17823971
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A 20.7 kb deletion within the factor VIII gene associated with LINE-1 element insertion.
    Van de Water N; Williams R; Ockelford P; Browett P
    Thromb Haemost; 1998 May; 79(5):938-42. PubMed ID: 9609225
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Analysis of the AluI polymorphism in intron 1 of the human coagulation factor VIII gene: a new marker for the hemophilia A carrier detection].
    Surin VL; Luk'ianenko AV; Luchinina IuA
    Genetika; 2007 Apr; 43(4):560-6. PubMed ID: 17555134
    [TBL] [Abstract][Full Text] [Related]  

  • 18. High-frequency Alu-mediated genomic recombination/deletion within the caspase-activated DNase gene in human hepatoma.
    Hsieh SY; Chen WY; Yeh TS; Sheen IS; Huang SF
    Oncogene; 2005 Sep; 24(43):6584-9. PubMed ID: 16007181
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.
    Jourdy Y; Janin A; Fretigny M; Lienhart A; Négrier C; Bozon D; Vinciguerra C
    Am J Hum Genet; 2018 Feb; 102(2):199-206. PubMed ID: 29357978
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Nonhomologous recombination in the human genome: deletions in the human factor VIII gene.
    Woods-Samuels P; Kazazian HH; Antonarakis SE
    Genomics; 1991 May; 10(1):94-101. PubMed ID: 1904396
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.