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26. ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. Curry CJ; O'Lague P; Tsai J; Hutchison HT; Jaspers NG; Wara D; Gatti RA Am J Hum Genet; 1989 Aug; 45(2):270-5. PubMed ID: 2491181 [TBL] [Abstract][Full Text] [Related]
27. Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation. Martin-Rodriguez S; Calvo-Ferrer A; Ortega-Unanue N; Samaniego-Jimenez L; Sanz-Izquierdo MP; Bernardo-Gonzalez I Ann Hum Genet; 2019 Jul; 83(4):266-273. PubMed ID: 30888062 [TBL] [Abstract][Full Text] [Related]
28. Chromosomal sensitivity to clastogenic agents and cell cycle perturbations in Nijmegen breakage syndrome lymphoblastoid cell lines. Antoccia A; Ricordy R; Maraschio P; Prudente S; Tanzarella C Int J Radiat Biol; 1997 Jan; 71(1):41-9. PubMed ID: 9020962 [TBL] [Abstract][Full Text] [Related]
29. Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome. Green AJ; Yates JR; Taylor AM; Biggs P; McGuire GM; McConville CM; Billing CJ; Barnes ND Arch Dis Child; 1995 Nov; 73(5):431-4. PubMed ID: 8554361 [TBL] [Abstract][Full Text] [Related]
30. Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay. Huo YK; Wang Z; Hong JH; Chessa L; McBride WH; Perlman SL; Gatti RA Cancer Res; 1994 May; 54(10):2544-7. PubMed ID: 8168076 [TBL] [Abstract][Full Text] [Related]
32. Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome. Ziv Y; Frydman M; Lange E; Zelnik N; Rotman G; Julier C; Jaspers NG; Dagan Y; Abeliovicz D; Dar H; Borochowitz Z; Lathrop M; Gatti RA; Shiloh Y Hum Genet; 1992 Mar; 88(6):619-26. PubMed ID: 1551665 [TBL] [Abstract][Full Text] [Related]
33. Radiation induction of p53 in cells from Nijmegen breakage syndrome is defective but not similar to ataxia-telangiectasia. Matsuura K; Balmukhanov T; Tauchi H; Weemaes C; Smeets D; Chrzanowska K; Endou S; Matsuura S; Komatsu K Biochem Biophys Res Commun; 1998 Jan; 242(3):602-7. PubMed ID: 9464263 [TBL] [Abstract][Full Text] [Related]
34. The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11. Komatsu K; Matsuura S; Tauchi H; Endo S; Kodama S; Smeets D; Weemaes C; Oshimura M Am J Hum Genet; 1996 Apr; 58(4):885-8. PubMed ID: 8644753 [No Abstract] [Full Text] [Related]
35. [Clinical, cytogenetic and molecular characterization of a new case of Nijmegen breakage syndrome in Chile]. Marcelain K; Aracena M; Be C; Navarrete CL; Moreno R; Santos M; Pincheira J Rev Med Chil; 2004 Feb; 132(2):211-8. PubMed ID: 15449558 [TBL] [Abstract][Full Text] [Related]
36. Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products. Zhao S; Weng YC; Yuan SS; Lin YT; Hsu HC; Lin SC; Gerbino E; Song MH; Zdzienicka MZ; Gatti RA; Shay JW; Ziv Y; Shiloh Y; Lee EY Nature; 2000 May; 405(6785):473-7. PubMed ID: 10839544 [TBL] [Abstract][Full Text] [Related]
38. 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]
39. Antioxidant Defense, Redox Homeostasis, and Oxidative Damage in Children With Ataxia Telangiectasia and Nijmegen Breakage Syndrome. Maciejczyk M; Heropolitanska-Pliszka E; Pietrucha B; Sawicka-Powierza J; Bernatowska E; Wolska-Kusnierz B; Pac M; Car H; Zalewska A; Mikoluc B Front Immunol; 2019; 10():2322. PubMed ID: 31611883 [TBL] [Abstract][Full Text] [Related]
40. ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. Wu X; Ranganathan V; Weisman DS; Heine WF; Ciccone DN; O'Neill TB; Crick KE; Pierce KA; Lane WS; Rathbun G; Livingston DM; Weaver DT Nature; 2000 May; 405(6785):477-82. PubMed ID: 10839545 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]