153 related articles for article (PubMed ID: 12702161)
1. Genetic heterogeneity for a Nijmegen breakage-like syndrome.
Maraschio P; Spadoni E; Tanzarella C; Antoccia A; Di Masi A; Maghnie M; Varon R; Demuth I; Tiepolo L; Danesino C
Clin Genet; 2003 Apr; 63(4):283-90. PubMed ID: 12702161
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Retroviral expression of the NBS1 gene in cultured Nijmegen breakage syndrome cells restores normal radiation sensitivity and nuclear focus formation.
Cerosaletti KM; Desai-Mehta A; Yeo TC; Kraakman-Van Der Zwet M; Zdzienicka MZ; Concannon P
Mutagenesis; 2000 May; 15(3):281-6. PubMed ID: 10792024
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts.
Kraakman-van der Zwet M; Overkamp WJ; Friedl AA; Klein B; Verhaegh GW; Jaspers NG; Midro AT; Eckardt-Schupp F; Lohman PH; Zdzienicka MZ
Mutat Res; 1999 May; 434(1):17-27. PubMed ID: 10377945
[TBL] [Abstract][Full Text] [Related]
6. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response.
Carney JP; Maser RS; Olivares H; Davis EM; Le Beau M; Yates JR; Hays L; Morgan WF; Petrini JH
Cell; 1998 May; 93(3):477-86. PubMed ID: 9590181
[TBL] [Abstract][Full Text] [Related]
7. Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.
The I
Arch Dis Child; 2000 May; 82(5):400-6. PubMed ID: 10799436
[TBL] [Abstract][Full Text] [Related]
8. Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.
Kleier S; Herrmann M; Wittwer B; Varon R; Reis A; Horst J
Clin Genet; 2000 May; 57(5):384-7. PubMed ID: 10852373
[TBL] [Abstract][Full Text] [Related]
9. V(D)J rearrangement in Nijmegen breakage syndrome.
Yeo TC; Xia D; Hassouneh S; Yang XO; Sabath DE; Sperling K; Gatti RA; Concannon P; Willerford DM
Mol Immunol; 2000 Dec; 37(18):1131-9. PubMed ID: 11451418
[TBL] [Abstract][Full Text] [Related]
10. The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia.
Gennery AR; Slatter MA; Bhattacharya A; Barge D; Haigh S; O'Driscoll M; Coleman R; Abinun M; Flood TJ; Cant AJ; Jeggo PA
Clin Immunol; 2004 Nov; 113(2):214-9. PubMed ID: 15451479
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Chromosome instability and nibrin protein variants in NBS heterozygotes.
Tanzanella C; Antoccia A; Spadoni E; di Masi A; Pecile V; Demori E; Varon R; Marseglia GL; Tiepolo L; Maraschio P
Eur J Hum Genet; 2003 Apr; 11(4):297-303. PubMed ID: 12708449
[TBL] [Abstract][Full Text] [Related]
13. ATM-dependent phosphorylation of nibrin in response to radiation exposure.
Gatei M; Young D; Cerosaletti KM; Desai-Mehta A; Spring K; Kozlov S; Lavin MF; Gatti RA; Concannon P; Khanna K
Nat Genet; 2000 May; 25(1):115-9. PubMed ID: 10802669
[TBL] [Abstract][Full Text] [Related]
14. Analysis of ataxia-telangiectasia mutated (ATM)- and Nijmegen breakage syndrome (NBS)-regulated gene expression patterns.
Jang ER; Lee JH; Lim DS; Lee JS
J Cancer Res Clin Oncol; 2004 Apr; 130(4):225-34. PubMed ID: 14745549
[TBL] [Abstract][Full Text] [Related]
15. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
Varon R; Vissinga C; Platzer M; Cerosaletti KM; Chrzanowska KH; Saar K; Beckmann G; Seemanová E; Cooper PR; Nowak NJ; Stumm M; Weemaes CM; Gatti RA; Wilson RK; Digweed M; Rosenthal A; Sperling K; Concannon P; Reis A
Cell; 1998 May; 93(3):467-76. PubMed ID: 9590180
[TBL] [Abstract][Full Text] [Related]
16. Positional cloning and functional analysis of the gene responsible for Nijmegen breakage syndrome, NBS1.
Tauchi H
J Radiat Res; 2000 Mar; 41(1):9-17. PubMed ID: 10838806
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers.
Di Masi A; Antoccia A; Spadoni E; Varon-Mateeva R; Maraschio P; Tanzarella C
Genet Test; 2006; 10(1):24-30. PubMed ID: 16544999
[TBL] [Abstract][Full Text] [Related]
19. Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation.
Gładkowska-Dura M; Dzierzanowska-Fangrat K; Dura WT; van Krieken JH; Chrzanowska KH; van Dongen JJ; Langerak AW
J Pathol; 2008 Nov; 216(3):337-44. PubMed ID: 18788073
[TBL] [Abstract][Full Text] [Related]
20. Determination of the frequency of the common 657Del5 Nijmegen breakage syndrome mutation in the German population: no association with risk of breast cancer.
Carlomagno F; Chang-Claude J; Dunning AM; Ponder BA
Genes Chromosomes Cancer; 1999 Aug; 25(4):393-5. PubMed ID: 10398434
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
