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Relevant bibliographies by topics / Chromosomal aberrations

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Academic literature on the topic 'Chromosomal aberrations'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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Journal articles on the topic "Chromosomal aberrations"

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Negoto, Tetsuya, Hidenobu Yoshitake, Aya Hashimoto, et al. "10049-GGE-3 CHARACTERISTICS OF CHROMOSOMAL ABERRATIONS IN GLIOMAS AND THEIR IMPACT ON RECURRENCE." Neuro-Oncology Advances 5, Supplement_5 (2023): v7. http://dx.doi.org/10.1093/noajnl/vdad141.025.

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Abstract INTRODUCTION Chromosome instability is the inability to evenly distribute sister chromatids during mitosis, which leads to chromosomal numerical/structural abnormalities and increases the genetic heterogeneity of the tumor. In this study, we investigated the association between chromosome aberration characteristics and recurrence in clinical specimens of gliomas using the Spectral Karyotyping. METHODS Chromosome karyotypes were analyzed for a total of 121 cells from 26 gliomas (Glioblastoma 14, PXA 3, Astrocytoma 5, Oligodendroglioma 3, Ependymoma 1, 18 primary cases and 8 recurrent c

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Fang, Min, Zahra Shamsi, Drew Bryant, et al. "Karyotype AI for Precision Oncology." Blood 144, Supplement 1 (2024): 1544. https://doi.org/10.1182/blood-2024-211644.

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Chromosome analysis is vital for diagnosing genetic disorders and cancer. For hematologic malignancies, identification of somatic clonal aberrations by karyotyping remains the first-line testing and drives therapeutic decisions. Clinically, karyotyping plays a unique role in diagnosing global genomic aberrations on a single-cell basis. However, it is time-consuming because of the largely manual process requiring special expertise. Efforts to automate karyotype analysis to date have fallen short in chromosome aberration detection. A key challenge in applying machine learning to karyotype analys

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Battaglia, Agatino, and Renzo Guerrini. "Chromosomal disorders associated with epilepsy." Epileptic Disorders 7, no. 3 (2005): 181–92. http://dx.doi.org/10.1684/j.1950-6945.2005.tb00120.x.

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Epilepsy is among the most common findings associated with chromosome aberrations, particularly those involving autosomal chromosome imbalances. Most chromosome aberrations can be associated with different seizure types, but there are a few aberrations featuring specific seizure and electroencephalographic (EEG) patterns. The analysis of electro‐clinical patterns associated with chromosomal aberrations is a major tool in the identification of epilepsy susceptibility genes. Advances in molecular cytogenetic techniques will certainly increase the diagnostic yield, and an increasing number of ind

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Ito, S., H. Sumitomo, and Y. Matsuoka. "Detection of Activity-Induced Chromosomal Aberrations Using Image Analysis." Water Science and Technology 25, no. 11 (1992): 227–34. http://dx.doi.org/10.2166/wst.1992.0296.

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Image analysis was applied to chromosomal aberration tests carried out on Chinese hamster lung cell (CHL). First, chromosomes on pictures which had been judged to be normals or aberrations by experts were analyzed by the authors' image analyzer. 802 chromosomes including 83 aberrations were distinguished by an algorithm which was developed with shape parameters. Consequently, 91.1% of exchanged-type aberrations, 47.4% of broken-type aberrations, and 97.9% of normals were correctly distinguished. And it was concluded that this algorithm could be put into practical detections of exchanged-type a

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Heng, Henry H. Q., Guo Liu, Steven Bremer, Karen J. Ye, Joshua Stevens, and Christine J. Ye. "Clonal and non-clonal chromosome aberrations and genome variation and aberration." Genome 49, no. 3 (2006): 195–204. http://dx.doi.org/10.1139/g06-023.

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The theoretical view that genome aberrations rather than gene mutations cause a majority of cancers has gained increasing support from recent experimental data. Genetic aberration at the chromosome level is a key aspect of genome aberration and the systematic definition of chromosomal aberrations with their impact on genome variation and cancer genome evolution is of great importance. However, traditionally, efforts have focused on recurrent clonal chromosome aberrations (CCAs). The significance of stochastic non-clonal chromosome aberrations (NCCAs) is discussed in this paper with emphasis on

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Kozoviy, Ruslan. "Frequency and Spectrum of Chromosomal Aberrations, Acrocentric Chromosome Associations Among Long Livers with Arterial Hypertension and Osteoarthritis Residing in the Carpathian Region." Galician Medical Journal 24, no. 1 (2017): 2017111. http://dx.doi.org/10.21802/gmj.2017.1.11.

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The frequency and spectrum of chromosomal aberrations, acrocentric chromosome associations among 264 long livers with arterial hypertension and osteoarthritis residing in the Carpathian region were analyzed. The obtained results were compared between patients with arterial hypertension and osteoarthritis, patients with arterial hypertension only, patients with osteoarthritis only and healthy individuals. The indices of the average frequency of chromosomal aberrations in all long livers was as follows: (2.82±0.27) in long livers with arterial hypertension and osteoarthritis and (2.17±0.47) in h

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Li, Jianyong, Bing Xiao, Lijuan Chen, Yu Zhu, Wei Xu, and Hairong Qiu. "Whole Chromosome Painting and Multiplex Fluorescence In Situ Hybridization in Detecting Complex Chromosomal Aberrations in Myelodysplastic Syndromes." Blood 108, no. 11 (2006): 4853. http://dx.doi.org/10.1182/blood.v108.11.4853.4853.

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Abstract Objective To explore the value of the technique of whole chromosome painting (WCP) and multiplex fluorescence in situ hybridization (M-FISH) in the detection of complex chromosomal aberrations (CCAs) of myelodysplastic syndromes (MDS). Methods M-FISH was used in seven MDS patients with CCAs detected by R-banding technique to refine CCAs, and to identify cryptic translocations and characterization of marker chromosomes. Dual-color WCP procedures were further performed in 7 cases to confirm some rearrangements detected by M-FISH. Results In all cases, M-FISH confirmed all results of R-b

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Noel Calir, Martina, Daniela Marisol Ferré, Valeria Ledda, and Nora Bibiana Maria Gorla. "Chromosomal aberrations induced by Mitomycin C in canine lymphocytes." Veterinarski arhiv 93, no. 3 (2023): 341–50. http://dx.doi.org/10.24099/vet.arhiv.1698.

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Chromosomal aberrations comprise an abnormal number of chromosomes as well as changes in the structure of the chromosomes. Aberrations in the structure of chromosomes, such as gaps and breaks in chromatids and chromosomes, acentric fragments, telomeric associations, deletions, early chromatid-separation and large scale effects, such as pulverized metaphases, and sticky metaphases. In this study, the effect of Mitomycin C, a recognized clastogen on human lymphocytes, was assayed in cultures of canine lymphocytes, an animal species that is flourishing in comparative medicine. Blood cultures were

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Eidelman, Yuri, Ilya Salnikov, Svetlana Slanina, and Sergey Andreev. "Chromosome Folding Promotes Intrachromosomal Aberrations under Radiation- and Nuclease-Induced DNA Breakage." International Journal of Molecular Sciences 22, no. 22 (2021): 12186. http://dx.doi.org/10.3390/ijms222212186.

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The long-standing question in radiation and cancer biology is how principles of chromosome organization impact the formation of chromosomal aberrations (CAs). To address this issue, we developed a physical modeling approach and analyzed high-throughput genomic data from chromosome conformation capture (Hi-C) and translocation sequencing (HTGTS) methods. Combining modeling of chromosome structure and of chromosomal aberrations induced by ionizing radiation (IR) and nuclease we made predictions which quantitatively correlated with key experimental findings in mouse chromosomes: chromosome contac

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Zemanova, Zuzana, Kyra Michalova, Libuse Babicka, et al. "Clinical Relevance of Complex Chromosomal Aberrations in Bone Marrow Cells of 107 Children with ETV6/RUNX1 Positive Acute Lymphoblastic Leukemia (ALL)." Blood 108, no. 11 (2006): 2278. http://dx.doi.org/10.1182/blood.v108.11.2278.2278.

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Abstract Cryptic translocation t(12;21)(p13;q22) which give origin to the ETV6/RUNX1 hybrid gene can be found by I-FISH in approximately 20–25% of children with B precursor ALL as the most frequent specific aberration. This translocation is generally associated with good outcome. Despite of its favorable prognostic value, late relapses may occur within this group of patients. One of the reasons could be the high instability of the genome of leukemic cells, which is manifested at the chromosomal level by additional aberrations and/or complex chromosomal rearrangements. The aim of the study was

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Dissertations / Theses on the topic "Chromosomal aberrations"

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Lee, Ann Siew Gek. "Chromosomal aberrations in breast cancer." Thesis, University of Oxford, 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.276849.

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Koen, Liezl. "Chromosomal aberrations in the Xhosa schizophrenia population." Thesis, Stellenbosch : Stellenbosch University, 2008. http://hdl.handle.net/10019.1/1189.

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Thesis (PhD (Psychiatry))--Stellenbosch University, 2008.<br>BACKGROUND: Schizophrenia is a heterogeneous illness resulting from complex gene-environment interplay. The majority of molecular genetic work done has involved Caucasian populations, with studies in these and Asian populations showing 2-32% of sufferers to have chromosomal aberrations. So far the discovery of a specific susceptibility mechanism or gene still eludes us, but the use of endophenotypes is advocated as a useful tool in this search. No cytogenetic studies of this nature have been reported in any African schizophrenia popu

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Veltman, Joris André. "Chromosomal aberrations during head and neck carcinogenesis." Maastricht : Maastricht : Universitaire Pers Maastricht ; University Library, Maastricht University [Host], 1999. http://arno.unimaas.nl/show.cgi?fid=6943.

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Nordgren, Ann. "Characterisation of chromosomal aberrations in childhood leukaemia /." Stockholm, 2001. http://diss.kib.ki.se/2001/91-628-4792-9/.

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Koen, Liezl. "Chromosomal aberrations in the Xhosa shizophrenia population /." Link to the online version, 2008. http://hdl.handle.net/10019/1697.

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Cuceu, Corina. "Telomere Dysfunction And Chromosomal Instability In Hodgkin Lymphoma." Thesis, Université Paris-Saclay (ComUE), 2015. http://www.theses.fr/2015SACLS210/document.

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Le lymphome de Hodgkin est caractérisé, d’un point de vue histologique, par la présence de rares cellules tumorales nommées cellules de Reed et Sternberg, au sein d’un infiltrat cellulaire polymorphe, inflammatoire et réactionnel. Cette dernière résulte de la transformation tumorale de cellules lymphocytaires B qui acquièrent des propriétés d’échappement au système immun, de prolifération, de résistance à l’apoptose et une instabilité chromosomique. Néanmoins, la rareté des cellules tumorales, impliquant des problèmes techniques mais aussi de caractérisation des évènements primaires dans l’ini

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Harvey, Alison Nichola. "The induction and production of chromosomal aberrations by restriction endonucleases." Thesis, Open University, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.388300.

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Southern, Shirley Anne. "Karyotypic analysis of cervical neoplasia : chromosomal aberrations and human papillomavirus infection." Thesis, University of Liverpool, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.367063.

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El-Mehidi, N. S. "Bayesian network models of interdependent chromosomal aberrations in unstable cancer genomes." Thesis, University College London (University of London), 2009. http://discovery.ucl.ac.uk/17425/.

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Cancer results from the sequential accumulation of heterogeneous mutations and epigenetic changes, leading to “onco-selection” of cells with survival/growth advantages in specific microenvironments. Chemotherapy and radiotherapy act by damaging DNA; uncoupling DNA damage from cell death can cause treatment resistance. Deregulation of the DNA damage response (DDR) can result from aberrant expression of DDR-related genes, due to chromosomal aberrations. Solid tumours often have multiple, recurrent chromosomal aberrations, suggesting coordinated somatic evolution of cancer genomes via co-selectio

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Sjöling, Åsa. "Molecular genetic analysis of chromosomal aberrations in DMBA-induced rat fibrosarcomas /." Göteborg : Göteborg university, 2002. http://catalogue.bnf.fr/ark:/12148/cb39929313x.

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Books on the topic "Chromosomal aberrations"

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Obe, Günter, and A. T. Natarajan, eds. Chromosomal Aberrations. Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5.

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G, Obe, and Natarajan A. T, eds. Chromosomal aberrations: Basic and applied aspects. Springer-Verlag, 1990.

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R, Kirsch Ilan, ed. The Causes and consequences of chromosomal aberrations. CRC Press, 1993.

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Motoi, Ishidate, ed. Data book of chromosomal aberration test in vitro. Elsevier, 1988.

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H, Nicolaides K., ed. Ultrasound markers for fetal chromosomal defects. Parthenon Pub. Group, 1996.

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Bhat, Tariq Ahmad, and Aijaz Ahmad Wani, eds. Chromosome Structure and Aberrations. Springer India, 2017. http://dx.doi.org/10.1007/978-81-322-3673-3.

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A, Sandberg Avery, ed. The Y chromosome. A.R. Liss, 1985.

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K, Vig Baldev, and NATO Advanced Research Workshop on Chromosome Segregation and Aneuploidy (1992 : Aghia Pelagia, Greece), eds. Chromosome segregation and aneuploidy. Springer-Verlag, 1993.

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1963-, Johansson Bertil, and Mertens Fredrik, eds. Catalog of chromosome aberrations in cancer. 5th ed. Wiley-Liss, 1994.

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Felix, Mitelman, ed. Catalog of chromosome aberrations in cancer. 2nd ed. Liss, 1985.

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Book chapters on the topic "Chromosomal aberrations"

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Drets, M. E., G. A. Folle, and F. J. Monteverde. "Quantitative Detection of Chromosome Structures by Computerized Microphotometric Scanning." In Chromosomal Aberrations. Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_1.

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Mitelman, F. "Patterns of Chromosome Variation in Neoplasia." In Chromosomal Aberrations. Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_10.

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Hittelman, W. N., N. Cheong, H. Y. Sohn, J. S. Lee, J. D. Tigaud, and S. Vadhan-Raj. "Tumorigenesis and Tumor Response: View from the (Prematurely Condensed) Chromosome." In Chromosomal Aberrations. Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_11.

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Sanford, K. K., and R. Parshad. "Detection of Cancer-Prone Individuals Using Cytogenetic Response to X-Rays." In Chromosomal Aberrations. Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_12.

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Schroeder-Kurth, T. M., U. Cramer-Giraud, and U. Mannsperger. "Human Disorders with Increased Spontaneous and Induced Chromosomal Instability." In Chromosomal Aberrations. Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_13.

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Olivieri, G., and A. Bosi. "Possible Causes of Variability of the Adaptive Response in Human Lymphocytes." In Chromosomal Aberrations. Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_14.

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Wolff, S., G. Olivieri, and V. Afzal. "Adaptation of Human Lymphocytes to Radiation or Chemical Mutagens: Differences in Cytogenetic Repair." In Chromosomal Aberrations. Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_15.

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Ikushima, T. "Radio-Adaptive Response: A Novel Chromosomal Response in Chinese Hamster Cells in Vitro." In Chromosomal Aberrations. Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_16.

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Rieger, R., A. Michaelis, and S. Takehisa. "On Adaptive Responses of Plant Meristem Cells in Vivo - Protection Against Induction of Chromatid Aberrations." In Chromosomal Aberrations. Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_17.

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Awa, A. A. "Chromosome Aberrations in A-Bomb Survivors, Hiroshima and Nagasaki." In Chromosomal Aberrations. Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_18.

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Conference papers on the topic "Chromosomal aberrations"

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Vinh, Le Sy. "Efficient Methods to Generate NIPT Male Samples with Aberrations on Sex Chromosomes for Benchmarking NIPT Algorithms." In 2024 12th International Conference on Bioinformatics and Computational Biology (ICBCB). IEEE, 2024. https://doi.org/10.1109/icbcb61507.2024.11012068.

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Tallon, Quentin, Juan Martinez, Eric Gregoire, et al. "Diffusion model uniform manifold filtering for classification of small datasets with underrepresented classes: application to chromosomal aberration microscopy detection." In Seventeenth International Conference on Machine Vision (ICMV 2024), edited by Wolfgang Osten. SPIE, 2025. https://doi.org/10.1117/12.3055038.

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Timofeeva, A. A., O. A. Soboleva, and E. A. Astaf'eva. "THE LEVEL OF CHROMOSOMAL ABERRATIONS AND THE DOSE OF ACTIVE RIBOSOMAL GENES IN COAL MINE WORKERS." In I International Congress “The Latest Achievements of Medicine, Healthcare, and Health-Saving Technologies”. Kemerovo State University, 2023. http://dx.doi.org/10.21603/-i-ic-132.

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Purpose: to study the relationship between the dose of active ribosomal genes and the level of chromosomal aberrations in coal mine workers. Chromosomal aberrations were studied in 357 miners and 736 men who do not work at industry. The dose of active ribosomal assessed in 154 miners and 91 people from the comparison group. Identified increase in the frequency of occurrence of single fragments in workers with an average dose of active ribosomal genes.

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Elena, Bonciu. "CHROMOSOMAL ABERRATIONS INDUCED BY PENTIMETHALIN IN ALLIUM SATIVUM ROOT MERISTEMS." In 14th SGEM GeoConference on NANO, BIO AND GREEN � TECHNOLOGIES FOR A SUSTAINABLE FUTURE. Stef92 Technology, 2014. http://dx.doi.org/10.5593/sgem2014/b61/s25.042.

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Xia, Hong, Yuanning Liu, Minghui Wang, Huanqing Feng, and Ao Li. "A novel HMM for analyzing chromosomal aberrations in heterogeneous tumor samples." In 2013 7th International Conference on Systems Biology (ISB). IEEE, 2013. http://dx.doi.org/10.1109/isb.2013.6623800.

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Tokunaga, E., N. Yamashita, K. Tanaka, et al. "Abstract P2-08-04: Subtype specific chromosomal aberrations in breast cancer." In Abstracts: Thirty-Sixth Annual CTRC-AACR San Antonio Breast Cancer Symposium - Dec 10-14, 2013; San Antonio, TX. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/0008-5472.sabcs13-p2-08-04.

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Bradley, Amanda, Kerstin Heselmeyer-Haddad, Timo Gaiser, et al. "Abstract 2107: Clonal patterns of chromosomal aberrations in cervical cancers and precursor lesions." In Proceedings: AACR 103rd Annual Meeting 2012‐‐ Mar 31‐Apr 4, 2012; Chicago, IL. American Association for Cancer Research, 2012. http://dx.doi.org/10.1158/1538-7445.am2012-2107.

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Goh, Xin Yi C., Jonathan RE Rees, Suet-Feung Chin, et al. "Abstract 1189: Chromosomal aberrations reveal novel genes with prognostic significance in esophageal adenocarcinoma." In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-1189.

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Burghel, George J., Wei-Yu Lin, Dave Hammond, Jonathan Bury, Simon S. Cross, and Angela Cox. "Abstract 3055: Identification of potential colorectal cancer driver genes in focal chromosomal aberrations." In Proceedings: AACR 102nd Annual Meeting 2011‐‐ Apr 2‐6, 2011; Orlando, FL. American Association for Cancer Research, 2011. http://dx.doi.org/10.1158/1538-7445.am2011-3055.

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Orjuela, Manuela A., Xinhua Liu, Rachel Miller, et al. "Abstract LB-402: Chromosomal aberrations in 5-year olds and urinary PAH metabolites." In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-lb-402.

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Reports on the topic "Chromosomal aberrations"

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Brenner, David J. MFISH Measurements of Chromosomal Aberrations Individuals Exposed in Utero to Gamma-ray Doses from 5 to 20 cGy. Office of Scientific and Technical Information (OSTI), 2009. http://dx.doi.org/10.2172/967363.

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Naylor, Susan L. Y Chromosome Aberrations in Prostate Cancer. Defense Technical Information Center, 2001. http://dx.doi.org/10.21236/ada404706.

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Naylor, Susan L. Y Chromosome Aberrations in Prostate Cancer. Defense Technical Information Center, 2004. http://dx.doi.org/10.21236/ada431579.

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Song, Jian. Test for Chemical Induction of Chromosome Aberrations in Cultured Chinese Hamster Ovary (CHO) Cells with and without Metabolic Activation, Test Article: 3-Nitro-1,2,4-Triazol-5-one (NTO). Defense Technical Information Center, 2008. http://dx.doi.org/10.21236/ada518834.

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Song, Jian. Test for Chemical Induction of Chromosome Aberration in Cultured Chinese Hamster Ovary (CHO) Cells With and Without Metabolic Activation. Test Article: N,N,N',N'-tetramethyl Ethanediamine (TMEDA). Defense Technical Information Center, 2008. http://dx.doi.org/10.21236/ada519474.

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Oxidative DNA damage leading to chromosomal aberrations and mutations. Organisation for Economic Co-Operation and Development (OECD), 2023. http://dx.doi.org/10.1787/399d2c34-en.

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