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Journal Abstract Search

226 related items for PubMed ID: 21227757

  • 1. Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.
    Matsumoto Y, Miyamoto T, Sakamoto H, Izumi H, Nakazawa Y, Ogi T, Tahara H, Oku S, Hiramoto A, Shiiki T, Fujisawa Y, Ohashi H, Sakemi Y, Matsuura S.
    DNA Repair (Amst); 2011 Mar 07; 10(3):314-21. PubMed ID: 21227757
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  • 2. Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
    Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dörk T.
    Am J Hum Genet; 2009 May 07; 84(5):605-16. PubMed ID: 19409520
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  • 4. Human RAD50 deficiency: Confirmation of a distinctive phenotype.
    Ragamin A, Yigit G, Bousset K, Beleggia F, Verheijen FW, de Wit MY, Strom TM, Dörk T, Wollnik B, Mancini GMS.
    Am J Med Genet A; 2020 Jun 07; 182(6):1378-1386. PubMed ID: 32212377
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  • 7. Cleavage of the BRCT tandem domains of nibrin by the 657del5 mutation affects the DNA damage response less than the Arg215Trp mutation.
    Mendez G, Cilli D, Berardinelli F, Viganotti M, Ascenzi P, Tanzarella C, Antoccia A, di Masi A.
    IUBMB Life; 2012 Oct 07; 64(10):853-61. PubMed ID: 22941933
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  • 9. A murine model of Nijmegen breakage syndrome.
    Williams BR, Mirzoeva OK, Morgan WF, Lin J, Dunnick W, Petrini JH.
    Curr Biol; 2002 Apr 16; 12(8):648-53. PubMed ID: 11967151
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  • 13. 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 16; 43(8):2136-2145. PubMed ID: 37794136
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  • 14. 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 Nov 16; 50(3):176-87. PubMed ID: 17395558
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  • 15. Ophthalmic features of ataxia telangiectasia-like disorder.
    Khan AO, Oystreck DT, Koenig M, Salih MA.
    J AAPOS; 2008 Apr 16; 12(2):186-9. PubMed ID: 18083591
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  • 16. Chromosomal Instability and Molecular Defects in Induced Pluripotent Stem Cells from Nijmegen Breakage Syndrome Patients.
    Halevy T, Akov S, Bohndorf M, Mlody B, Adjaye J, Benvenisty N, Goldberg M.
    Cell Rep; 2016 Aug 30; 16(9):2499-511. PubMed ID: 27545893
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  • 17. Ataxia-telangiectasia, an evolving phenotype.
    Chun HH, Gatti RA.
    DNA Repair (Amst); 2004 Aug 30; 3(8-9):1187-96. PubMed ID: 15279807
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  • 18. Ataxia-telangiectasia and related diseases.
    Frappart PO, McKinnon PJ.
    Neuromolecular Med; 2006 Aug 30; 8(4):495-511. PubMed ID: 17028372
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  • 19. A distinct response to endogenous DNA damage in the development of Nbs1-deficient cortical neurons.
    Li R, Yang YG, Gao Y, Wang ZQ, Tong WM.
    Cell Res; 2012 May 30; 22(5):859-72. PubMed ID: 22212482
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  • 20. Growth of persistent foci of DNA damage checkpoint factors is essential for amplification of G1 checkpoint signaling.
    Yamauchi M, Oka Y, Yamamoto M, Niimura K, Uchida M, Kodama S, Watanabe M, Sekine I, Yamashita S, Suzuki K.
    DNA Repair (Amst); 2008 Mar 01; 7(3):405-17. PubMed ID: 18248856
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