61 related articles for article (PubMed ID: 17395558)
1. Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome.
Cakmak Genc G; Yilmaz B; Karakas Celik S; Aydemir C; Eroz R; Dursun A
Birth Defects Res; 2024 May; 116(5):e2346. PubMed ID: 38761025
[TBL] [Abstract][Full Text] [Related]
2. Nijmegen Breakage Syndrome fibroblasts and iPSCs: cellular models for uncovering disease-associated signaling pathways and establishing a screening platform for anti-oxidants.
Mlody B; Wruck W; Martins S; Sperling K; Adjaye J
Sci Rep; 2017 Aug; 7(1):7516. PubMed ID: 28790359
[TBL] [Abstract][Full Text] [Related]
3. Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants.
Takagi M; Hoshino A; Bousset K; Röddecke J; Martin HL; Folcut I; Tomomasa D; Yang X; Kobayashi J; Sakata N; Yoshida K; Miyano S; Ogawa S; Kojima S; Morio T; Dörk T; Kanegane H
J Clin Immunol; 2023 Nov; 43(8):2136-2145. PubMed ID: 37794136
[TBL] [Abstract][Full Text] [Related]
4. Chromosome instability syndromes.
Taylor AMR; Rothblum-Oviatt C; Ellis NA; Hickson ID; Meyer S; Crawford TO; Smogorzewska A; Pietrucha B; Weemaes C; Stewart GS
Nat Rev Dis Primers; 2019 Sep; 5(1):64. PubMed ID: 31537806
[TBL] [Abstract][Full Text] [Related]
5. Comparison of Selected Parameters of Redox Homeostasis in Patients with Ataxia-Telangiectasia and Nijmegen Breakage Syndrome.
Pietrucha B; Heropolitanska-Pliszka E; Maciejczyk M; Car H; Sawicka-Powierza J; Motkowski R; Karpinska J; Hryniewicka M; Zalewska A; Pac M; Wolska-Kusnierz B; Bernatowska E; Mikoluc B
Oxid Med Cell Longev; 2017; 2017():6745840. PubMed ID: 29456787
[TBL] [Abstract][Full Text] [Related]
6. Clinical radiation sensitivity with DNA repair disorders: an overview.
Pollard JM; Gatti RA
Int J Radiat Oncol Biol Phys; 2009 Aug; 74(5):1323-31. PubMed ID: 19616740
[TBL] [Abstract][Full Text] [Related]
7. Positive diepoxybutane test in a patient with Nijmegen breakage syndrome.
Gallego MS; Barreiro CZ; Danielian S; Rosenweig SD
Pediatr Blood Cancer; 2007 Jul; 49(1):110; author reply 111. PubMed ID: 16862537
[No Abstract] [Full Text] [Related]
8. Genes causing congenital hydrocephalus: Their chromosomal characteristics of telomere proximity and DNA compositions.
McKnight I; Hart C; Park IH; Shim JW
Exp Neurol; 2021 Jan; 335():113523. PubMed ID: 33157092
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Telomere instability in a human tumor cell line expressing NBS1 with mutations at sites phosphorylated by ATM.
Bai Y; Murnane JP
Mol Cancer Res; 2003 Dec; 1(14):1058-69. PubMed ID: 14707289
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
16.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
17.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
18.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]