328 related articles for article (PubMed ID: 19250427)
1. 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]
2. 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]
3. 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]
4. 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]
5. Nijmegen breakage syndrome complicated with primary cutaneous tuberculosis.
Erdös M; Tóth B; Veres I; Kiss M; Remenyik E; Maródi L
Pediatr Infect Dis J; 2011 Apr; 30(4):359-60. PubMed ID: 20924312
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. Nijmegen breakage syndrome (NBS).
Chrzanowska KH; Gregorek H; Dembowska-Bagińska B; Kalina MA; Digweed M
Orphanet J Rare Dis; 2012 Feb; 7():13. PubMed ID: 22373003
[TBL] [Abstract][Full Text] [Related]
10. [Heterozygous carriers of Slavic mutation 657del5 of NBN gene in patients with colorectal cancer].
Seemanová E; Hoch J; Seeman P
Cas Lek Cesk; 2011; 150(2):97-9. PubMed ID: 21560448
[TBL] [Abstract][Full Text] [Related]
11. 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]
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].
Erdos M; Tóth B; Juhász P; Mahdi M; Maródi L
Orv Hetil; 2010 Apr; 151(16):665-73. PubMed ID: 20353920
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Fertility defects revealing germline biallelic nonsense NBN mutations.
Warcoin M; Lespinasse J; Despouy G; Dubois d'Enghien C; Laugé A; Portnoï MF; Christin-Maitre S; Stoppa-Lyonnet D; Stern MH
Hum Mutat; 2009 Mar; 30(3):424-30. PubMed ID: 19105185
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. [Nijmegen breakage syndrome in Slovakia].
Seemanová E; Pohanka V; Seeman P; Misovicová N; Behunová J; Kvasnicová M; Dlholucký S; Valachová A; Cisarik F; Veghová E; Varon R; Sperling K
Cas Lek Cesk; 2004; 143(8):538-41; discussion 542. PubMed ID: 15446459
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
