Relevant bibliographies by topics / Nijmegen Breakage Syndrome

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  2. Dissertations / Theses
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Academic literature on the topic 'Nijmegen Breakage Syndrome'

Author: Grafiati
Published: 4 June 2021
Last updated: 25 April 2022

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Journal articles on the topic "Nijmegen Breakage Syndrome"

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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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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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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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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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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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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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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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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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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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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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Dissertations / Theses on the topic "Nijmegen Breakage Syndrome"

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Mlody, Barbara [Verfasser]. "IPSC-based Modelling of Nijmegen Breakage Syndrome / Barbara Mlody." Berlin : Freie Universität Berlin, 2016. http://d-nb.info/111634470X/34.

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Blischke, Daniel [Verfasser], and Luitpold [Akademischer Betreuer] Distel. "Bruchpunktlokalisation beim Nijmegen Breakage Syndrome / Daniel Blischke. Betreuer: Luitpold Distel." Erlangen : Universitätsbibliothek der Universität Erlangen-Nürnberg, 2011. http://d-nb.info/1015782884/34.

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Yeo, Tiong Chia. "Nijmegen breakage syndrome : role of nibrin in antigen receptor gene rearrangement and cellular responses to ionizing radiation /." Thesis, Connect to this title online; UW restricted, 2000. http://hdl.handle.net/1773/8340.

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Shimada, Mikio. "Inactivation of the Nijmegen breakage syndrome gene NBS1 leads to excess centrosome duplication via the ATR/BRCA1 pathway." Kyoto University, 2009. http://hdl.handle.net/2433/123948.

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Kyoto University (京都大学)
0048
新制・課程博士
博士(人間・環境学)
甲第14733号
人博第469号
新制||人||115(附属図書館)
20||人博||469(吉田南総合図書館)
UT51-2009-D445
京都大学大学院人間・環境学研究科相関環境学専攻
(主査)教授 小松 賢志, 教授 五十嵐 樹彦, 准教授 三浦 智行
学位規則第4条第1項該当
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Habib, Raneem [Verfasser]. "Analysis of telomere length in patients with chromosomal instability syndromes, particularly Nijmegen Breakage Syndrome (NBS) and its mouse model by complementary technologies / Raneem Habib." Berlin : Freie Universität Berlin, 2012. http://d-nb.info/1027816428/34.

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Frappart, Pierre-Olivier. "Fonction biologique de la réponse aux lésions de l'ADN : étude génétique et moléculaire du gène responsable du Nijmegen Breakage Syndrome : NBS1." Montpellier, ENSA, 2005. http://www.theses.fr/2005ENSA0001.

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"Le Nijmegen Breakage Syndrome (NBS) constitue un syndrome héréditaire lié à des mutations du gène NBS1. Afin d'étudier les fonctions de ce gène et son rôle dans la pathologie tumorale et le développement du système nerveux central, nous avons généré des modèles murins " knock-out " conventionnels ou conditionnels dans lesquels le gène est invalidé. L'analyse des embryons NBS1 nullizygotes a révélé une létalité précoce entre E3. 5 et E7. 5 associée à des défauts de prolifération cellulaire et à une augmentation de l'apoptose. Les souris hétérozygotes développent un large spectre de tumeurs épithéliales (foie, poumons), ainsi que des lymphomes. Elles présentent également une susceptibilité accrue aux radiations ionisantes. L'invalidation du gène NBS1 de manière spécifique dans les cellules progénitrices neurales conduit à des anomalies du système nerveux central et en particulier du cervelet se traduisant par une microcéphalie et une ataxie précoce. Ces anomalies sont liées à un défaut de prolifération cellulaire des cellules neuroprogénitrices et à une mort cellulaire des neurones en différenciation post-mitotiques associé à une activation de la voie de réponse aux lésions de l'ADN Atm/p53. En conclusion, ces modèles et les cellules dérivées, obtenus durant ma thèse, constituent des outils puissants pour l'étude des fonctions du gène NBS1 et des conséquences de son inactivation. "
The Nijmegen Breakage Syndrome (NBS) is an autosomal recessive disorder caused by mutations of the NBS 1 gene. Ln order to study the biological functions of the gene and its role in the tumorigenesis and in the central nervous system development, we generated NBS] mutant mouse models using conventional and conditional knock-out approaches. Homozygous disruption of the NBS] gene results in early embryonic letality associated with severe proliferation defects and increase apoptosis. Heterozygous NBS] mutant mice develop a large spectrum of epithelial tumours (liver, lung) in addition to lymphomas and exhibit a high susceptibility to ionising radiation. The inactivation of NBS] in neural stemlprogenitor cells leads to severe developmental defects of the central nervous system and particularly the cerebellum, including microcephaly, early postnatal ataxia. These anomalies are associated with impaired cellular proliferation of neuroprogenitor cells and increased cell death of post-mitotic differentiating neurones due to activation of the Atm/p53 DNA damage response pathway. Ln conclusion, these mouse models, as weIl as cells derived from mutant mice, which have been developed during my thesis represent powerful tools to study the function of the NBS 1 gene and the consequences of its inactivation
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JOHNSON, BRIAN REAVES. "THE ROLE OF ATAXIA TELANGIECTASIA-MUTATED AND NIJMEGEN BREAKAGE SYNDROME PROTEIN-1 IN THE ACCUMULATION OF UVC-INDUCED DNA REPLICATION-DEPENDENT DOUBLE STAND BREAKS." University of Cincinnati / OhioLINK, 2002. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1022158038.

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Geier, Katja. "Durchflusszytometrische Diagnostik bei Verdacht auf Nijmegen Breakage Syndrom." Doctoral thesis, kostenfrei, 2008. http://nbn-resolving.de/urn/resolver.pl?urn=nbn:de:bvb:20-opus-27695.

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Degerman, Sofie. "The immortalization process of T cells with focus on the regulation of telomere length and telomerase activity /." Doctoral thesis, Umeå : Umeå University, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-33466.

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Kieslich, Moritz Kaspar [Verfasser]. "Funktionelle Charakterisierung hypomorpher Proteinvarianten beim Nijmegen Breakage Syndrom / Moritz Kaspar Kieslich." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2013. http://d-nb.info/1043197524/34.

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Books on the topic "Nijmegen Breakage Syndrome"

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McKinlay Gardner, R. J., and David J. Amor. Chromosome Instability Syndromes. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0016.

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A defect of DNA repair is the factor underlying the chromosome instability syndromes, also known as chromosome breakage syndromes. The “instability” refers to the predisposition of the chromosomes to undergo rearrangement or to display other abnormal cytogenetic behavior. The classic chromosome instability syndromes are individually rare: Fanconi syndrome, ataxia-telangiectasia, and Bloom syndrome. Smaller-print conditions are yet more rare, including Roberts syndrome; the immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome; and Nijmegen breakage syndrome. The role of cytogenetics in diagnosis is less central than formerly, but the interest in these conditions remains, and this chapter provides a full listing. Autosomal recessive inheritance is typical, albeit not universal.
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Book chapters on the topic "Nijmegen Breakage Syndrome"

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Digweed, Martin. "Nijmegen Breakage Syndrome." In Encyclopedia of Cancer, 2520–22. Berlin, Heidelberg: Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-16483-5_4086.

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Kondratenko, Irina, Olga Paschenko, Alexandr Polyakov, and Andrey Bologov. "Nijmegen Breakage Syndrome." In Advances in Experimental Medicine and Biology, 61–67. New York, NY: Springer New York, 2007. http://dx.doi.org/10.1007/978-0-387-72005-0_6.

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Froehlich, Stephan J., Carlo A. Lackerbauer, Guenter Rudolph, Jan Rémi, Soheyl Noachtar, Werner J. Heppt, Annette Cryer, et al. "Nijmegen Breakage Syndrome." In Encyclopedia of Molecular Mechanisms of Disease, 1482–83. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_1288.

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Weemaes, Corry, and Luciana Chessa. "Nijmegen Breakage Syndrome." In Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes, 759–69. Vienna: Springer Vienna, 2008. http://dx.doi.org/10.1007/978-3-211-69500-5_50.

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Digweed, Martin. "Nijmegen Breakage Syndrome." In Encyclopedia of Cancer, 1–3. Berlin, Heidelberg: Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/978-3-642-27841-9_4086-2.

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Digweed, Martin. "Nijmegen Breakage Syndrome." In Encyclopedia of Cancer, 3099–101. Berlin, Heidelberg: Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/978-3-662-46875-3_4086.

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Sharapova, Svetlana O., and Larysa V. Kostyuchenko. "Nijmegen Breakage Syndrome (NBS1)." In Encyclopedia of Medical Immunology, 1–6. New York, NY: Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4614-9209-2_161-1.

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Sharapova, Svetlana O., and Larysa V. Kostyuchenko. "Nijmegen Breakage Syndrome (NBS1)." In Encyclopedia of Medical Immunology, 506–11. New York, NY: Springer New York, 2020. http://dx.doi.org/10.1007/978-1-4614-8678-7_161.

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Kobayashi, Junya. "Ataxia-Telangiectasia and Nijmegen Breakage Syndrome." In DNA Repair Disorders, 191–201. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-10-6722-8_13.

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Antoccia, A., J. Kobayashi, H. Tauchi, S. Matsuura, and K. Komatsu. "Nijmegen Breakage Syndrome and Functions of the Responsible Protein,NBS1." In Genome and Disease, 191–205. Basel: KARGER, 2006. http://dx.doi.org/10.1159/000092508.

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Conference papers on the topic "Nijmegen Breakage Syndrome"

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Dmenska, Hanna, and Beata Wolska-Kusnierz. "Pulmonary manifestations of Nijmegen breakage syndrome [NBS]." In ERS International Congress 2016 abstracts. European Respiratory Society, 2016. http://dx.doi.org/10.1183/13993003.congress-2016.pa1285.

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Beyer, J., C. Voigt, R. Fröber, I. Schreyer, A. Weise, E. Schleußner, and U. Schneider. "Postnatale Diagnose eines familiären Nijmegen-Breakage-Syndrom – pränatale Mikrozephalie/Ventrikulomegalie als Ausdruck einer syndromalen Erkrankung mit schwieriger Beratungssituation." In Interdisziplinärer Kongress | Ultraschall 2018 – 42. Dreiländertreffen SGUM | DEGUM | ÖGUM. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1670394.

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Journal articles Dissertations / Theses
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