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Journal articles on the topic 'Nijmegen Breakage Syndrome'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 April 2022

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1

Kagan, M. Y., N. S. Shulakova, R. A. Gumirova, E. A. Zlodeeva, and N. V. Resnick. "NIJMEGEN BREAKAGE SYNDROME." Pediatric pharmacology 9, no. 3 (June 15, 2012): 102. http://dx.doi.org/10.15690/pf.v9i3.331.

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2

Erdős, Melinda, Beáta Tóth, Pálma Juhász, Mohamed Mahdi, and László Maródi. "Nijmegen Breakage syndrome." Orvosi Hetilap 151, no. 16 (April 1, 2010): 665–73. http://dx.doi.org/10.1556/oh.2010.28851.

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A Nijmegen–Breakage-szindróma ritka, autoszomális recesszív öröklődésű kórkép, amelyre súlyos kombinált immundeficientia, visszatérő sinopulmonalis fertőzések, a kromoszómainstabilitás és az ionizáló sugárzással szembeni hiperszenzitivitás miatt a malignus betegségek gyakoribb előfordulása, fejlődési rendellenességek, madárarc, progresszív microcephalia, valamint növekedési és mentális retardáció jellemző. A betegség hátterében a DNS-repair-mechanizmusokban fontos szerepet játszó nibrin nevű protein kódolásáért felelős NBS1 gén mutációja áll. A közleményben a szerzők két esetismertetés kapcsán bemutatják a betegség klinikumát, a jellemző laboratóriumi leleteket, és összefoglalják a kórkép molekuláris patomechanizmusával kapcsolatos ismereteket, valamint a kezelés lehetőségeit.

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3

The International Nijmegen Breakage Syndrome Study Group. "Nijmegen breakage syndrome." Archives of Disease in Childhood 82, no. 5 (May 1, 2000): 400–406. http://dx.doi.org/10.1136/adc.82.5.400.

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4

van der Burgt, I., K. H. Chrzanowska, D. Smeets, and C. Weemaes. "Nijmegen breakage syndrome." Journal of Medical Genetics 33, no. 2 (February 1, 1996): 153–56. http://dx.doi.org/10.1136/jmg.33.2.153.

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5

Chrzanowska, Krystyna H., Hanna Gregorek, Bożenna Dembowska-Bagińska, Maria A. Kalina, and Martin Digweed. "Nijmegen breakage syndrome (NBS)." Orphanet Journal of Rare Diseases 7, no. 1 (2012): 13. http://dx.doi.org/10.1186/1750-1172-7-13.

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6

Barth, Elsa, Eliana Demori, Vanna Pecile, Giulio Andrea Zanazzo, Cristiana Malorgio, and Paolo Tamaro. "Anthracyclines in Nijmegen breakage syndrome." Medical and Pediatric Oncology 40, no. 2 (November 29, 2002): 122–24. http://dx.doi.org/10.1002/mpo.10079.

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7

Weemaes, C. M. R., D. F. C. M. Smeets, and C. J. A. M. van der Burgt. "Nijmegen Breakage Syndrome: A Progress Report." International Journal of Radiation Biology 66, sup6 (January 1994): S185—S188. http://dx.doi.org/10.1080/09553009414552021.

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8

Pasic, Srdjan. "Aplastic anemia in Nijmegen breakage syndrome." Journal of Pediatrics 141, no. 5 (November 2002): 0742. http://dx.doi.org/10.1067/mpd.2002.128749.

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9

Pasic, Srdjan, Maja Cupic, Tanja Jovanovic, Slobodanka Djukic, Maja Kavaric, and Ivana Lazarevic. "Nijmegen breakage syndrome and chronic polyarthritis." Italian Journal of Pediatrics 39, no. 1 (2013): 59. http://dx.doi.org/10.1186/1824-7288-39-59.

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10

Albert, M. H., A. R. Gennery, J. Greil, C. M. Cale, K. Kalwak, I. Kondratenko, W. Mlynarski, et al. "Successful SCT for Nijmegen breakage syndrome." Bone Marrow Transplantation 45, no. 4 (August 17, 2009): 622–26. http://dx.doi.org/10.1038/bmt.2009.207.

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11

Lammens, M., J. A. P. Hiel, F. J. M. Gabreels, C. M. R. Weemaes, and A. Chakrabarty. "Nijmegen breakage syndrome: a neuropathological study." Neuropathology and Applied Neurobiology 28, no. 2 (March 2002): 163–64. http://dx.doi.org/10.1046/j.1365-2990.2002.39286_42.x.

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12

WOLF, ELIZABETH K., and TOR A. SHWAYDER. "Nijmegen Breakage Syndrome Associated with Porokeratosis." Pediatric Dermatology 26, no. 1 (January 2009): 106–8. http://dx.doi.org/10.1111/j.1525-1470.2008.00839.x.

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13

Weemaes, C. M. R., D. F. C. M. Smeets, and C. J. A. M. van der Burgt. "Nijmegen Breakage Syndrome: a progress report." International Journal of Radiation Biology 66, sup5 (January 1994): S185—S188. http://dx.doi.org/10.1080/09553002.1994.11772028.

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14

DÜZENLİ KAR, Yeter, Zeynep Canan ÖZDEMİR, and Özcan BÖR. "Follicular Lymphoma and Nijmegen Breakage Syndrome: Case Report." Turkiye Klinikleri Journal of Medical Sciences 37, no. 3 (2017): 136–39. http://dx.doi.org/10.5336/medsci.2017-55272.

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15

Kaa, Christina A. Van de, Corry M. R. Weemaes, Pieter Wesseling, H. Ewout Schaafsma, Asgeir Haraldsson, and Roel A. De Weger. "Postmortem Findings in the Nijmegen Breakage Syndrome." Pediatric Pathology 14, no. 5 (January 1994): 787–96. http://dx.doi.org/10.3109/15513819409037676.

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16

Williams, Bret R., Olga K. Mirzoeva, William F. Morgan, Junyu Lin, Wesley Dunnick, and John H. J. Petrini. "A Murine Model of Nijmegen Breakage Syndrome." Current Biology 12, no. 8 (April 2002): 648–53. http://dx.doi.org/10.1016/s0960-9822(02)00763-7.

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17

Hibner, E. lżabieta, Janusz Wendorff, Grażyna Ircha, Malgorzata Piotrowicz, and Krzysztof Zeman. "Cavernous sinus thrombophlebitis in Nijmegen breakage syndrome." Pediatric Neurology 27, no. 1 (July 2002): 62–64. http://dx.doi.org/10.1016/s0887-8994(02)00385-5.

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18

Featherstone, Carol, and Stephen P. Jackson. "DNA repair: The Nijmegen breakage syndrome protein." Current Biology 8, no. 17 (August 1998): R622—R625. http://dx.doi.org/10.1016/s0960-9822(98)70392-6.

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19

Der Kaloustian, Vazken M., Wim Kleijer, Ann Booth, Arleen D. Auerbach, Bruce Mazer, Alison M. Elliott, Sharon Abish, et al. "Possible new variant of Nijmegen breakage syndrome." American Journal of Medical Genetics 65, no. 1 (October 2, 1996): 21–26. http://dx.doi.org/10.1002/(sici)1096-8628(19961002)65:1<21::aid-ajmg3>3.0.co;2-0.

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20

New, Helen V., C. M. Cale, M. Tischkowitz, A. Jones, P. Telfer, P. Veys, A. D'Andrea, C. G. Mathew, and I. Hann. "Nijmegen breakage syndrome diagnosed as Fanconi anaemia." Pediatric Blood & Cancer 44, no. 5 (May 2005): 494–99. http://dx.doi.org/10.1002/pbc.20271.

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21

Taalman, Rob D. F. M., Theo W. J. Hustinx, Corry M. R. Weemaes, Eva Seemanová, Angela Schmidt, Eberhard Passarge, and Jacques M. J. C. Scheres. "Further delineation of the Nijmegen breakage syndrome." American Journal of Medical Genetics 32, no. 3 (March 1989): 425–31. http://dx.doi.org/10.1002/ajmg.1320320332.

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22

Albert, M. H., A. R. Gennery, J. Greil, C. M. Cale, K. Kalwak, I. Kondratenko, W. Mlynarski, et al. "Stem Cell Transplantation For Nijmegen Breakage Syndrome." Biology of Blood and Marrow Transplantation 16, no. 2 (February 2010): S240. http://dx.doi.org/10.1016/j.bbmt.2009.12.261.

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23

Bekiesi?ska-Figatowska, M., K. H. Chrzanowska, J. Sikorska, J. Walecki, M. Krajewska-Walasek, S. J�?wiak, and W. J. Kleijer. "Cranial MRI in the Nijmegen breakage syndrome." Neuroradiology 42, no. 1 (January 10, 2000): 43–47. http://dx.doi.org/10.1007/s002340050011.

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24

Marczak, Honorata, Edyta Heropolitańska-Pliszka, Renata Langfort, Danuta Roik, and Katarzyna Grzela. "Nijmegen Breakage Syndrome Complicated With Primary Pulmonary Granulomas." Pediatrics 142, no. 4 (September 12, 2018): e20180122. http://dx.doi.org/10.1542/peds.2018-0122.

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25

Sharp, David. "Nijmegen breakage syndrome linked to DNA-damage recognition." Lancet 351, no. 9114 (May 1998): 1494. http://dx.doi.org/10.1016/s0140-6736(05)78879-6.

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26

Kraakman-van der Zwet, Maria, Wilhelmina J. I. Overkamp, Anna A. Friedl, Binie Klein, Gerald W. C. T. Verhaegh, Nicolaas G. J. Jaspers, Alina T. Midro, Friederike Eckardt-Schupp, Paul H. M. Lohman, and Małgorzata Z. Zdzienicka. "Immortalization and characterization of Nijmegen Breakage Syndrome fibroblasts." Mutation Research/DNA Repair 434, no. 1 (May 1999): 17–27. http://dx.doi.org/10.1016/s0921-8777(99)00009-9.

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27

Yeo, Tiong Chia, Dong Xia, Samar Hassouneh, Xuexian O. Yang, Daniel E. Sabath, Karl Sperling, Richard A. Gatti, Patrick Concannon, and Dennis M. Willerford. "V(D)J rearrangement in Nijmegen breakage syndrome." Molecular Immunology 37, no. 18 (December 2000): 1131–39. http://dx.doi.org/10.1016/s0161-5890(01)00026-8.

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28

Maraschio, P., E. Spadoni, C. Tanzarella, A. Antoccia, A. Di Masi, M. Maghnie, R. Varon, I. Demuth, L. Tiepolo, and C. Danesino. "Genetic heterogeneity for a Nijmegen breakage-like syndrome." Clinical Genetics 63, no. 4 (April 2003): 283–90. http://dx.doi.org/10.1034/j.1399-0004.2003.00054.x.

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29

Erdös, Melinda, Beáta Tóth, Imre Veres, Mária Kiss, Éva Remenyik, and László Maródi. "NIJMEGEN BREAKAGE SYNDROME COMPLICATED WITH PRIMARY CUTANEOUS TUBERCULOSIS." Pediatric Infectious Disease Journal 30, no. 4 (April 2011): 359–60. http://dx.doi.org/10.1097/inf.0b013e3181faa941.

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30

Borte, Stephan, Ulrika von Döbeln, Anders Fasth, Ning Wang, Magdalena Janzi, Jacek Winiarski, Ulrich Sack, Qiang Pan-Hammarström, Michael Borte, and Lennart Hammarström. "Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR." Blood 119, no. 11 (March 15, 2012): 2552–55. http://dx.doi.org/10.1182/blood-2011-08-371021.

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Abstract Severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) are inborn errors of immune function that require prompt diagnosis and treatment to prevent life-threatening infections. The lack of functional T or B lymphocytes in these diseases serves as a diagnostic criterion and can be applied to neonatal screening. A robust triplex PCR method for quantitation of T-cell receptor excision circles (TRECs) and κ-deleting recombination excision circles (KRECs), using a single Guthrie card punch, was developed and validated in a cohort of 2560 anonymized newborn screening cards and in 49 original stored Guthrie cards from patients diagnosed with SCID, XLA, ataxia-telangiectasia, Nijmegen-breakage-syndrome, common variable immunodeficiency, immunoglobulin A deficiency, or X-linked hyper-IgMsyndrome. Simultaneous measurement of TREC and KREC copy numbers in Guthrie card samples readily identified patients with SCID, XLA, ataxia-telangiectasia and Nijmegen-breakage-syndrome and thus facilitates effective newborn screening for severe immunodeficiency syndromes characterized by the absence of T or B cells.

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31

Zarubina, K. I., E. N. Parovnikova, A. V. Kokhno, O. A. Gavrilina, V. V. Troitskaya, T. N. Obukhova, A. M. Kovrigina, G. A. Klyasova, E. V. Raikina, and M. A. Maschan. "Diagnosis and treatment of acute lymphoblastic leukemia in a patient with niimegen syndrome ﬁrst diagnosed in adulthood." Russian journal of hematology and transfusiology 65, no. 1 (March 11, 2020): 39–51. http://dx.doi.org/10.35754/0234-5730-2020-65-1-39-51.

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Background. Nijmegen breakage syndrome is a rare hereditary autosomal recessive disorder characterized by microcephaly, combined primary immunodeﬁciency, sensitivity to radioactive radiation and liability to tumours of various nature (in particular, those developing in the lymphatic tissue). This syndrome is part of a group of diseases characterized by chromosomal instability. This disease develops as a result of mutations in the NBS1 gene, which is responsible for repairing DNA double-stranded breaks.Aim. To describe a clinical case of the diagnosis and treatment of T-cell acute lymphoblastic leukemia in a patient with Nijmegen syndrome, which was ﬁrst diagnosed in adulthood.General ﬁndings. A clinical case of the diagnosis and treatment of Nijmegen syndrome in a young man with de novo T-cell acute lymphoblastic leukemia is presented. The difﬁculty of early diagnosis of hereditary genetic syndromes is demonstrated. The genetic character of such conditions is revealed over time, when children and young adults begin to develop long-term complications, in particular tumours of various origins. Early detection of hereditary genetic syndromes in children is of great importance.

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32

van der Lelij, Petra, Anneke B. Oostra, Martin A. Rooimans, Hans Joenje, and Johan P. de Winter. "Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome." Anemia 2010 (2010): 1–7. http://dx.doi.org/10.1155/2010/565268.

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Fanconi anemia (FA) is a recessively inherited disease characterized by multiple symptoms including growth retardation, skeletal abnormalities, and bone marrow failure. The FA diagnosis is complicated due to the fact that the clinical manifestations are both diverse and variable. A chromosomal breakage test using a DNA cross-linking agent, in which cells from an FA patient typically exhibit an extraordinarily sensitive response, has been considered the gold standard for the ultimate diagnosis of FA. In the majority of FA patients the test results are unambiguous, although in some cases the presence of hematopoietic mosaicism may complicate interpretation of the data. However, some diagnostic overlap with other syndromes has previously been noted in cases with Nijmegen breakage syndrome. Here we present results showing that misdiagnosis may also occur with patients suffering from two of the three currently known cohesinopathies, that is, Roberts syndrome (RBS) and Warsaw breakage syndrome (WABS). This complication may be avoided by scoring metaphase chromosomes—in addition to chromosomal breakage—for spontaneously occurring premature centromere division, which is characteristic for RBS and WABS, but not for FA.

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33

Bogdanova, Natalia, Sergei Feshchenko, Peter Schürmann, Regina Waltes, Britta Wieland, Peter Hillemanns, Yuri I. Rogov, et al. "Nijmegen Breakage Syndrome mutations and risk of breast cancer." International Journal of Cancer 122, no. 4 (2007): 802–6. http://dx.doi.org/10.1002/ijc.23168.

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34

Huang, Jian, Michael A. Grotzer, Takuya Watanabe, Ekkehard Hewer, Torsten Pietsch, Stefan Rutkowski, and Hiroko Ohgaki. "Mutations in the Nijmegen Breakage Syndrome Gene in Medulloblastomas." Clinical Cancer Research 14, no. 13 (July 1, 2008): 4053–58. http://dx.doi.org/10.1158/1078-0432.ccr-08-0098.

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35

Jovanovic, Ankica, Predrag Minic, Marija Scekic-Guc, Slavisa Djuricic, Sanja Cirkovic, Corry Weemaes, and Srdjan Pasic. "Successful Treatment of Hodgkin Lymphoma in Nijmegen Breakage Syndrome." Journal of Pediatric Hematology/Oncology 31, no. 1 (January 2009): 49–52. http://dx.doi.org/10.1097/mph.0b013e318190d72c.

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36

Varon, Raymonda, Véronique Dutrannoy, Georg Weikert, Caterina Tanzarella, Antonio Antoccia, Lars Stöckl, Emanuela Spadoni, et al. "Mild Nijmegen breakage syndrome phenotype due to alternative splicing." Human Molecular Genetics 15, no. 5 (January 13, 2006): 679–89. http://dx.doi.org/10.1093/hmg/ddi482.

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37

Matsuura, Shinya, Hiroshi Tauchi, Asako Nakamura, Noriko Kondo, Shuichi Sakamoto, Satoru Endo, Dominique Smeets, et al. "Positional cloning of the gene for Nijmegen breakage syndrome." Nature Genetics 19, no. 2 (June 1998): 179–81. http://dx.doi.org/10.1038/549.

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38

Gupta, Dipti, and Anu Nagarkar. "Speech impairment in Nijmegen breakage syndrome: A rare anomaly." International Journal of Pediatric Otorhinolaryngology 73, no. 6 (June 2009): 873–75. http://dx.doi.org/10.1016/j.ijporl.2009.01.003.

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39

MARASCHIO, P. "A novel mutation and novel features in Nijmegen breakage syndrome." Journal of Medical Genetics 38, no. 2 (February 1, 2001): 113–17. http://dx.doi.org/10.1136/jmg.38.2.113.

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40

Mlody, Barbara, and James Adjaye. "Generation of iPSC lines from a Nijmegen Breakage Syndrome patient." Stem Cell Research 15, no. 3 (November 2015): 629–32. http://dx.doi.org/10.1016/j.scr.2015.10.013.

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41

Yuan, Zhigang, Xiaohong Zhang, Nilanjan Sengupta, William S. Lane, and Edward Seto. "SIRT1 Regulates the Function of the Nijmegen Breakage Syndrome Protein." Molecular Cell 27, no. 1 (July 2007): 149–62. http://dx.doi.org/10.1016/j.molcel.2007.05.029.

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42

Muschke, Petra, Hannswerner Gola, Raymonda Varon, Albrecht Röpke, Walter Zumkeller, Peter Wieacker, and Markus Stumm. "Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome." Prenatal Diagnosis 24, no. 2 (February 2004): 111–13. http://dx.doi.org/10.1002/pd.803.

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43

Gallego, Marta S., C. Z. Barreiro, S. Danielian, and S. D. Rosenweig. "Positive diepoxybutane test in a patient with Nijmegen Breakage Syndrome." Pediatric Blood & Cancer 49, no. 1 (2007): 110. http://dx.doi.org/10.1002/pbc.20941.

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44

Green, A. J., J. R. Yates, A. M. Taylor, P. Biggs, G. M. McGuire, C. M. McConville, C. J. Billing, and N. D. Barnes. "Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome." Archives of Disease in Childhood 73, no. 5 (November 1, 1995): 431–34. http://dx.doi.org/10.1136/adc.73.5.431.

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45

Waltes, Regina, Reinhard Kalb, Magtouf Gatei, Amanda W. Kijas, Markus Stumm, Alexandra Sobeck, Britta Wieland, et al. "Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder." American Journal of Human Genetics 84, no. 5 (May 2009): 605–16. http://dx.doi.org/10.1016/j.ajhg.2009.04.010.

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46

Sullivan, Kathleen E., Ekaterina Veksler, Howard Lederman, and Susan P. Lees-Miller. "Cell Cycle Checkpoints and DNA Repair in Nijmegen Breakage Syndrome." Clinical Immunology and Immunopathology 82, no. 1 (January 1997): 43–48. http://dx.doi.org/10.1006/clin.1996.4275.

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47

Shackelford, Rodney E., Maisoun Q. Abdelbaqi, Amal Anga, and James Cotelignam. "Nijmegen breakage syndrome 1 protein hyperacetylation as a molecular mechanism underlying metabolic syndrome." Bioscience Hypotheses 1, no. 6 (January 2008): 295–300. http://dx.doi.org/10.1016/j.bihy.2008.06.013.

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48

CHEN, MENG, WEN-SHIN CHANG, TE-CHUN SHEN, CHI-LI GONG, MENG-LIANG LIN, ZHI-HONG WANG, YUN-CHI WANG, et al. "Association of Nijmegen Breakage Syndrome 1 Genotypes With Bladder Cancer Risk." Anticancer Research 40, no. 4 (March 31, 2020): 2011–17. http://dx.doi.org/10.21873/anticanres.14157.

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49

Gregorek, Hanna, Dorota Olczak-Kowalczyk, Bozenna Dembowska-Bagińska, Barbara Pietrucha, Anna Wakulińska, Dariusz Gozdowski, and Krystyna H. Chrzanowska. "Oral findings in patients with Nijmegen breakage syndrome: A preliminary study." Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology 108, no. 5 (November 2009): e39-e45. http://dx.doi.org/10.1016/j.tripleo.2009.06.032.

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50

Chrzanowska, K. H. "Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome." Journal of Medical Genetics 39, no. 5 (May 1, 2002): 25e—25. http://dx.doi.org/10.1136/jmg.39.5.e25.

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