BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

332 related articles for article (PubMed ID: 15279809)

  • 1. Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks.
    Digweed M; Sperling K
    DNA Repair (Amst); 2004; 3(8-9):1207-17. PubMed ID: 15279809
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly.
    Seeman P; Gebertová K; Paderová K; Sperling K; Seemanová E
    Pediatr Neurol; 2004 Mar; 30(3):195-200. PubMed ID: 15033202
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability.
    Demuth I; Frappart PO; Hildebrand G; Melchers A; Lobitz S; Stöckl L; Varon R; Herceg Z; Sperling K; Wang ZQ; Digweed M
    Hum Mol Genet; 2004 Oct; 13(20):2385-97. PubMed ID: 15333589
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome.
    Demuth I; Digweed M
    Oncogene; 2007 Dec; 26(56):7792-8. PubMed ID: 18066092
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Nijmegen breakage syndrome: consequences of defective DNA double strand break repair.
    Digweed M; Reis A; Sperling K
    Bioessays; 1999 Aug; 21(8):649-56. PubMed ID: 10440861
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Positional cloning of the gene for Nijmegen breakage syndrome.
    Matsuura S; Tauchi H; Nakamura A; Kondo N; Sakamoto S; Endo S; Smeets D; Solder B; Belohradsky BH; Der Kaloustian VM; Oshimura M; Isomura M; Nakamura Y; Komatsu K
    Nat Genet; 1998 Jun; 19(2):179-81. PubMed ID: 9620777
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.
    Krüger L; Demuth I; Neitzel H; Varon R; Sperling K; Chrzanowska KH; Seemanova E; Digweed M
    Carcinogenesis; 2007 Jan; 28(1):107-11. PubMed ID: 16840438
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site.
    Meyer S; Kingston H; Taylor AM; Byrd PJ; Last JI; Brennan BM; Trueman S; Kelsey A; Taylor GM; Eden OB
    Cancer Genet Cytogenet; 2004 Oct; 154(2):169-74. PubMed ID: 15474156
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.
    Berardinelli F; di Masi A; Salvatore M; Banerjee S; Myung K; De Villartay JP; Revy P; Plebani A; Soresina A; Taruscio D; Tanzarella C; Antoccia A
    Eur J Med Genet; 2007; 50(3):176-87. PubMed ID: 17395558
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations.
    Watanabe T; Nobusawa S; Lu S; Huang J; Mittelbronn M; Ohgaki H
    J Neuropathol Exp Neurol; 2009 Feb; 68(2):210-5. PubMed ID: 19151620
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome.
    Lins S; Kim R; Krüger L; Chrzanowska KH; Seemanova E; Digweed M
    Gene; 2009 Nov; 447(1):12-7. PubMed ID: 19635536
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.
    Seemanová E; Sperling K; Neitzel H; Varon R; Hadac J; Butova O; Schröck E; Seeman P; Digweed M
    J Med Genet; 2006 Mar; 43(3):218-24. PubMed ID: 16033915
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Nijmegen breakage syndrome associated with porokeratosis.
    Wolf EK; Shwayder TA
    Pediatr Dermatol; 2009; 26(1):106-8. PubMed ID: 19250427
    [TBL] [Abstract][Full Text] [Related]  

  • 14. MRI evidence of white matter damage in a mouse model of Nijmegen breakage syndrome.
    Assaf Y; Galron R; Shapira I; Nitzan A; Blumenfeld-Katzir T; Solomon AS; Holdengreber V; Wang ZQ; Shiloh Y; Barzilai A
    Exp Neurol; 2008 Jan; 209(1):181-91. PubMed ID: 17976584
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in the Nijmegen breakage syndrome gene in medulloblastomas.
    Huang J; Grotzer MA; Watanabe T; Hewer E; Pietsch T; Rutkowski S; Ohgaki H
    Clin Cancer Res; 2008 Jul; 14(13):4053-8. PubMed ID: 18593981
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Nijmegen breakage syndrome: case report and review of literature.
    Hasbaoui BE; Elyajouri A; Abilkassem R; Agadr A
    Pan Afr Med J; 2020; 35():85. PubMed ID: 32537088
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.
    Chrzanowska KH; Kleijer WJ; Krajewska-Walasek M; Białecka M; Gutkowska A; Goryluk-Kozakiewicz B; Michałkiewicz J; Stachowski J; Gregorek H; Lysón-Wojciechowska G
    Am J Med Genet; 1995 Jul; 57(3):462-71. PubMed ID: 7545870
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Nijmegen breakage syndrome.
    Kondratenko I; Paschenko O; Polyakov A; Bologov A
    Adv Exp Med Biol; 2007; 601():61-7. PubMed ID: 17712992
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients.
    Thierfelder N; Demuth I; Burghardt N; Schmelz K; Sperling K; Chrzanowska KH; Seemanova E; Digweed M
    Eur J Cell Biol; 2008 Feb; 87(2):111-21. PubMed ID: 17977616
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mild Nijmegen breakage syndrome phenotype due to alternative splicing.
    Varon R; Dutrannoy V; Weikert G; Tanzarella C; Antoccia A; Stöckl L; Spadoni E; Krüger LA; di Masi A; Sperling K; Digweed M; Maraschio P
    Hum Mol Genet; 2006 Mar; 15(5):679-89. PubMed ID: 16415040
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.