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Original Article

Nijmegen Breakage Syndrome: A Progress Report

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Pages S185-S188 | Received 25 May 1994, Accepted 30 Jun 1994, Published online: 03 Jul 2009

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Read on this site (4)

Rachel M Blundred & Grant S Stewart. (2011) DNA double-strand break repair, immunodeficiency and the RIDDLE syndrome. Expert Review of Clinical Immunology 7:2, pages 169-185.
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Amal Saidi, Tangliang Li, Falk Weih, Patrick Concannon & Zhao-Qi Wang. (2010) Dual Functions of Nbs1 in the Repair of DNA Breaks and Proliferation Ensure Proper V(D)J Recombination and T-Cell Development. Molecular and Cellular Biology 30:23, pages 5572-5581.
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Wim Jongmans, Michèle Vuillaume, Krystyna Chrzanowska, Dominique Smeets, Karl Sperling & Janet Hall. (1997) Nijmegen Breakage Syndrome Cells Fail To Induce the p53-Mediated DNA Damage Response following Exposure to Ionizing Radiation. Molecular and Cellular Biology 17:9, pages 5016-5022.
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R.A. Gatti, E. Lange, G. Rotman, X. Chen, N. Uhrhammer, T. Liang, S. Chiplunkar, L. Yang, N. Udar, S. Dandekar, S. Sheikhavandi, Z. Wang, H.-M. Yang, J. Polikow, M. Elashoff, M. Teletar, O. Sanal, L. Chessa, C. McConville, M. Taylor, Y. Shiloh, O. Porras, A.-L. Borresen, R.-D. Wegner, C. Curry, S. Gerken, K. Lange & P. Concannon. (1994) Genetic Haplotyping of Ataxia-telangiectasia Families Localizes the Major Gene to an ∼ 850 kb Region on Chromosome 11q23.1. International Journal of Radiation Biology 66:sup6, pages S57-S62.
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Barbara Piatosa, Beata Wolska-Kuśnierz, Katarzyna Tkaczyk, Edyta Heropolitanska-Pliszka, Urszula Grycuk, Anna Wakulinska & Hanna Gregorek. (2020) T Lymphocytes in Patients With Nijmegen Breakage Syndrome Demonstrate Features of Exhaustion and Senescence in Flow Cytometric Evaluation of Maturation Pathway. Frontiers in Immunology 11.
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Oscar Porras. 2014. Stiehm's Immune Deficiencies. Stiehm's Immune Deficiencies 199 219 .
C. G. Woods & A. Parker. (2013) Investigating microcephaly. Archives of Disease in Childhood 98:9, pages 707-713.
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Filippo Conti & Eric Ghigo. (2013) PC3 (BTG2/TIS21) possible role in chromosome instability syndromes. Medical Hypotheses 81:1, pages 82-85.
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Yuji Masuda & Kenji Kamiya. (2012) Molecular nature of radiation injury and DNA repair disorders associated with radiosensitivity. International Journal of Hematology 95:3, pages 239-245.
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Hiromi Yanagihara, Junya Kobayashi, Satoshi Tateishi, Akihiro Kato, Shinya Matsuura, Hiroshi Tauchi, Kouichi Yamada, Jun Takezawa, Kaoru Sugasawa, Chikahide Masutani, Fumio Hanaoka, Corry M. Weemaes, Toshio Mori, Lee Zou & Kenshi Komatsu. (2011) NBS1 Recruits RAD18 via a RAD6-like Domain and Regulates Pol η-Dependent Translesion DNA Synthesis. Molecular Cell 43:5, pages 788-797.
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Melinda Erdös, Beáta Tóth, Imre Veres, Mária Kiss, Éva Remenyik & László Maródi. (2011) NIJMEGEN BREAKAGE SYNDROME COMPLICATED WITH PRIMARY CUTANEOUS TUBERCULOSIS. Pediatric Infectious Disease Journal 30:4, pages 359-360.
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Megan S. Lim & Kojo S.J. Elenitoba-Johnson. 2011. Hematopathology. Hematopathology 839 853 .
Melinda Erdős, Beáta Tóth, Pálma Juhász, Mohamed Mahdi & László Maródi. (2010) Nijmegen Breakage syndrome. Orvosi Hetilap 151:16, pages 665-673.
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Frederick G. Behm. 2010. Molecular Pathology of Hematolymphoid Diseases. Molecular Pathology of Hematolymphoid Diseases 21 64 .
M Gładkowska-Dura, K Dzierżanowska-Fangrat, WT Dura, JHJM van Krieken, KH Chrzanowska, JJM van Dongen & AW Langerak. (2008) Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation. The Journal of Pathology 216:3, pages 337-344.
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Nadja Thierfelder, Ilja Demuth, Nadine Burghardt, Karin Schmelz, Karl Sperling, Krystyna H. Chrzanowska, Eva Seemanova & Martin Digweed. (2008) Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients. European Journal of Cell Biology 87:2, pages 111-121.
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Miroslav Dumic, Ivo Radman, Nevena Krnic, Marin Nola, Rajko Kusec, Davor Begovic, Boris Labar & Marko Rados. (2007) Successful Treatment of Diffuse Large B-Cell Non-Hodgkin Lymphoma with Modified CHOP (Cyclophosphamide/Doxorubicin/Vincristine/ Prednisone) Chemotherapy and Rituximab in a Patient with Nijmegen Syndrome. Clinical Lymphoma and Myeloma 7:9, pages 590-593.
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Ying Zhang, Junqing Zhou & Chang UK Lim. (2006) The role of NBS1 in DNA double strand break repair, telomere stability, and cell cycle checkpoint control. Cell Research 16:1, pages 45-54.
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Ying Zhang, Chang U.K. Lim, Eli S. Williams, Junqing Zhou, Qinming Zhang, Michael H. Fox, Susan M. Bailey & Howard L. Liber. (2005) NBS1 Knockdown by Small Interfering RNA Increases Ionizing Radiation Mutagenesis and Telomere Association in Human Cells . Cancer Research 65:13, pages 5544-5553.
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Martin Digweed & Karl Sperling. (2004) Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. DNA Repair 3:8-9, pages 1207-1217.
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George Martin, Fuki Hisama & Sherman WeissmanMartin Digweed & Eberhard Fritz. 2003. Chromosomal Instability and Aging. Chromosomal Instability and Aging.
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John B. Little, Hatsumi Nagasawa, William K. Dahlberg, Malgorzata Z. Zdzienicka, Sandeep Burma & David J. Chen. (2002) Differing Responses of Nijmegen Breakage Syndrome and Ataxia Telangiectasia Cells to Ionizing Radiation. Radiation Research 158:3, pages 319-326.
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Hiroshi Watanabe, Dong Yu, Takehito Sasaki, Hitoshi Shibuya, Yoshio Hosoi, Minoru Asada, Kenshi Komatsu & Masahiko Miura. (2002) Insulin-like growth factor I receptor is expressed at normal levels in Nijmegen breakage syndrome cells. Biochemical and Biophysical Research Communications 296:1, pages 62-66.
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