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]