196 related articles for article (PubMed ID: 16415040)
1. 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]
2. An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele.
Maser RS; Zinkel R; Petrini JH
Nat Genet; 2001 Apr; 27(4):417-21. PubMed ID: 11279524
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.
Pepe CM; Saraco NI; Baquedano MS; Guercio G; Vaiani E; Marino R; Pandey AV; Flück CE; Rivarola MA; Belgorosky A
Clin Endocrinol (Oxf); 2007 Nov; 67(5):698-705. PubMed ID: 17608756
[TBL] [Abstract][Full Text] [Related]
7. New mutations and protein variants of NBS1 are identified in cancer cell lines.
Tessitore A; Biordi L; Flati V; Toniato E; Marchetti P; Ricevuto E; Ficorella C; Scotto L; Giannini G; Frati L; Masciocchi C; Tombolini V; Gulino A; Martinotti S
Genes Chromosomes Cancer; 2003 Feb; 36(2):198-204. PubMed ID: 12508248
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. Cancer risk of heterozygotes with the NBN founder mutation.
Seemanová E; Jarolim P; Seeman P; Varon R; Digweed M; Swift M; Sperling K
J Natl Cancer Inst; 2007 Dec; 99(24):1875-80. PubMed ID: 18073374
[TBL] [Abstract][Full Text] [Related]
15. Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome.
Distel L; Neubauer S; Varon R; Holter W; Grabenbauer G
Med Pediatr Oncol; 2003 Jul; 41(1):44-8. PubMed ID: 12764742
[TBL] [Abstract][Full Text] [Related]
16. Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families.
Resnick IB; Kondratenko I; Togoev O; Vasserman N; Shagina I; Evgrafov O; Tverskaya S; Cerosaletti KM; Gatti RA; Concannon P
J Pediatr; 2002 Mar; 140(3):355-61. PubMed ID: 11953735
[TBL] [Abstract][Full Text] [Related]
17. Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis.
Dumon-Jones V; Frappart PO; Tong WM; Sajithlal G; Hulla W; Schmid G; Herceg Z; Digweed M; Wang ZQ
Cancer Res; 2003 Nov; 63(21):7263-9. PubMed ID: 14612522
[TBL] [Abstract][Full Text] [Related]
18. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Expression of full-length NBS1 protein restores normal radiation responses in cells from Nijmegen breakage syndrome patients.
Ito A; Tauchi H; Kobayashi J; Morishima K; Nakamura A; Hirokawa Y; Matsuura S; Ito K; Komatsu K
Biochem Biophys Res Commun; 1999 Nov; 265(3):716-21. PubMed ID: 10600486
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
