Academic literature on the topic 'Human chromosome abnormalities'
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Journal articles on the topic "Human chromosome abnormalities"
Tamang, Sonam. "Principles and Applications of Fetal Chromosome Number and Structure Analysis." Sriwijaya Journal of Obstetrics and Gynecology 1, no. 2 (December 20, 2023): 39–43. http://dx.doi.org/10.59345/sjog.v1i2.83.
Full textDang, Tien-Truong, Thi Mui Phung, Hoang Le, Thi-Bich-Van Nguyen, Thi Sim Nguyen, Thi Lien Huong Nguyen, Vu Thi Nga, Dinh Toi Chu, Van Luong Hoang, and Duy Bac Nguyen. "Preimplantation Genetic Testing of Aneuploidy by Next Generation Sequencing: Association of Maternal Age and Chromosomal Abnormalities of Blastocyst." Open Access Macedonian Journal of Medical Sciences 7, no. 24 (December 20, 2019): 4427–31. http://dx.doi.org/10.3889/oamjms.2019.875.
Full textGontar, Y. V., O. Y. Verlinsky, I. E. Ilyin, and O. M. Fedota. "Investigation of human aneuploidy and polyploidy in subcidiary reproductive technology programs." Visnik ukrains'kogo tovaristva genetikiv i selekcioneriv 14, no. 1 (June 20, 2016): 8–15. http://dx.doi.org/10.7124/visnyk.utgis.14.1.539.
Full textMunne, S. "Chromosome abnormalities in human embryos." Human Reproduction Update 4, no. 6 (November 1, 1998): 842–55. http://dx.doi.org/10.1093/humupd/4.6.842.
Full textMcFadden, Deborah E., and J. M. Friedman. "Chromosome abnormalities in human beings." Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 396, no. 1-2 (December 1997): 129–40. http://dx.doi.org/10.1016/s0027-5107(97)00179-6.
Full textDonate, Anna, Anna M. Estop, Jesús Giraldo, and Cristina Templado. "Paternal Age and Numerical Chromosome Abnormalities in Human Spermatozoa." Cytogenetic and Genome Research 148, no. 4 (2016): 241–48. http://dx.doi.org/10.1159/000446724.
Full textHall, Judith G. "How imprinting is relevant to human disease." Development 108, Supplement (April 1, 1990): 141–48. http://dx.doi.org/10.1242/dev.108.supplement.141.
Full textMorris, SW, MB Valentine, DN Shapiro, JE Sublett, LL Deaven, JT Foust, WM Roberts, DP Cerretti, and AT Look. "Reassignment of the human CSF1 gene to chromosome 1p13-p21." Blood 78, no. 8 (October 15, 1991): 2013–20. http://dx.doi.org/10.1182/blood.v78.8.2013.2013.
Full textMorris, SW, MB Valentine, DN Shapiro, JE Sublett, LL Deaven, JT Foust, WM Roberts, DP Cerretti, and AT Look. "Reassignment of the human CSF1 gene to chromosome 1p13-p21." Blood 78, no. 8 (October 15, 1991): 2013–20. http://dx.doi.org/10.1182/blood.v78.8.2013.bloodjournal7882013.
Full textWeier, Heinz-Ulli G., Jingly F. Weier, Maria Oter Renom, Xuezhong Zheng, Pere Colls, Aida Nureddin, Chau D. Pham, Lisa W. Chu, Catherine Racowsky, and Santiago Munné. "Fluorescence In Situ Hybridization and Spectral Imaging Analysis of Human Oocytes and First Polar Bodies." Journal of Histochemistry & Cytochemistry 53, no. 3 (March 2005): 269–72. http://dx.doi.org/10.1369/jhc.4b6391.2005.
Full textDissertations / Theses on the topic "Human chromosome abnormalities"
Downie, Sarah Elizabeth. "Detection of chromosomes and chromosomal abnormalities in human sperm." Title page, contents and overview only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phd751.pdf.
Full textLahn, Bruce T. 1968. "The human Y chromosome : gene content and chromosomal abnormalities." Thesis, Massachusetts Institute of Technology, 1998. http://hdl.handle.net/1721.1/49655.
Full textBen, Amor Hanene. "Chromosome abnormalities in preimplantation bovine embryos." Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111790.
Full textStudies suggest that chromosomal abnormalities notably mosaicism consisting of normal and abnormal cells is a common feature observed in mammalian preimplantation embryos. The data on chromosome abnormalities in bovine embryos however, are limited. The principal aim of this study was to investigate chromosome abnormalities and their effect on the development of bovine embryos produced in vitro. 193 embryos were evaluated for chromosomal abnormalities, using dual fluorescent in situ hybridization (FISH) with developed DNA probes for X and Y chromosomes. Our results demonstrate that uniformly abnormal embryos were found mostly at the early cleavage stages, and embryos with extensive chromosome abnormalities were usually arrested by the morula stage. Chromosomal mosaicism was observed at the 2- cell stage and increased steadily with subsequent stages of development. By the blastocyst stage, chromosomal mosaicism was the main abnormality observed and affected 95% of the blastocysts. Most of the mosaic blastocysts comprised of diploid and tetraploid cells. In the second part, a detailed analysis of 121 day 7 and days 9-10 blastocysts, demonstrated that the proportion of polyploid cells in most of the morphologically good quality embryos was less than 15%, which was significantly lower than in poor quality embryos. [...]
II a ete suggere que des anomalies chromosomiques particulierement le mosaicism sont frequemment rencontres chez les embryons des bovins produit in vitro, cependant les donnees disponibles sont tres limitees. Le but principal de cette etude est d'evaluer les anomalies chromosomiques particulierement le mosaicism au different stades de developpement embryonnaire par FISH en utilisant des probes 'ADN pour les chromosomes X et Y. Nos resultats demontrent que des embryons uniformement anormales ont ete surtout trouves aux premiers stades de cleavage, temoignant que les embryons avec une vaste anomalie affectant la totalite des embryons sont souvent arretes au stade du morula. Le mosaicism chromosomique a ete rencontre dans tous les stades de developpement et il a augmente emarquablement pendant le developpement embryonnaire. Ainsi, au stade du blastocyst, le mosaicism chromosomique etait l'anomalie principale observee avec 95 % de blastocysts analyses devenant mosaiques. [...]
Clouston, Hazel J. "An investigation of chromosome abnormalities in the human blastocyst." Thesis, University of Newcastle Upon Tyne, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.397361.
Full textJames, Rowena Sarah. "Genomic imprinting and the aetiology of human chromosome abnormalities." Thesis, University of Southampton, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.295874.
Full textNancarrow, Julie. "Studies of fragile sites on human chromosome 16 /." Title page, abstract and contents only, 1998. http://web4.library.adelaide.edu.au/theses/09PH/09phn1755.pdf.
Full textCopies of author's previously published articles inserted. Includes bibliographical references (leaves 194-222).
Glassberg, Andrea E. "Genetic testing for susceptibility to breast and ovarian cancer : a case study of clinical decision-making in medical genetics /." Thesis, Connect to this title online; UW restricted, 1997. http://hdl.handle.net/1773/10308.
Full textConn, Clare Maria. "Molecular cytogenetic analysis of chromosome abnormalities in early human embryos." Thesis, University College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.399168.
Full textDeng, Wen. "Dynamics of chromosome instability in human cells undergoing immortalization." Click to view the E-thesis via HKUTO, 2005. http://sunzi.lib.hku.hk/hkuto/record/B31375972.
Full textDeng, Wen, and 鄧文. "Dynamics of chromosome instability in human cells undergoing immortalization." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B31375972.
Full textBooks on the topic "Human chromosome abnormalities"
Frederick, Hecht, ed. Fragile sites on human chromosomes. New York: Oxford University Press, 1985.
Find full textB, Berch Daniel, Bender Bruce G, and American Association for the Advancement of Science. National Meeting, eds. Sex chromosome abnormalities and human behavior: Psychological studies. Boulder, Colo: Published by Westview Press for the American Association for the Advancement of Science, 1990.
Find full text1926-, Hirschhorn Kurt, Paul Natalie W, and March of Dimes Birth Defects Foundation., eds. A guide to human chromosome defects. 3rd ed. White Plains, N.Y. (1275 Mamaroneck Ave., White Plains 10605): March of Dimes Birth Defects Foundation, 1992.
Find full textPai, G. Shashidhar. Handbook of chromosomal syndromes. New York: J. Wiley, 2003.
Find full textG, Obe, and Natarajan A. T, eds. Chromosomal aberrations: Basic and applied aspects. Berlin: Springer-Verlag, 1990.
Find full textG, Obe, and Natarajan A. T, eds. Chromosomal alterations: Origin and significance. Berlin: Springer-Verlag, 1994.
Find full textS, Verma Ram, and Babu Arvind, eds. Human chromosomes: Principles and techniques. 2nd ed. New York: McGraw-Hill, 1995.
Find full textF, Carter Ronald, ed. Genetic testing: Care, consent and liability. Hoboken, N.J: Wiley-Liss, 2006.
Find full textuniversitet, Københavns, ed. Characterization of DNA polymorphisms on human chromosome 21 and their use in the study of unbalanced karyotypes, with special reference to nondisjunction in trisomy 21. Denmark]: Alma, 1996.
Find full textA, Sandberg Avery, ed. The Y chromosome. New York: A.R. Liss, 1985.
Find full textBook chapters on the topic "Human chromosome abnormalities"
Therman, Eeva. "Numerical Sex Chromosome Abnormalities." In Human Chromosomes, 176–81. New York, NY: Springer US, 1986. http://dx.doi.org/10.1007/978-1-4684-0269-8_19.
Full textMartin, Renée H. "Chromosome Abnormalities in Human Sperm." In Advances in Experimental Medicine and Biology, 181–88. Boston, MA: Springer US, 2003. http://dx.doi.org/10.1007/978-1-4419-9190-4_15.
Full textYe, Christine J., Sarah Regan, Guo Liu, Batoul Abdallah, Steve Horne, and Henry H. Heng. "Unclassified Chromosome Abnormalities and Genome Behavior in Interphase." In Human Interphase Chromosomes, 107–30. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-62532-0_6.
Full textHardy, Kathy, and Terry Hassold. "Chromosome Abnormalities in Human Pregnancy Loss." In Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 315–29. 2nd ed. Boca Raton: CRC Press, 2022. http://dx.doi.org/10.1201/9781003024941-28.
Full textJacobs, P. A., and T. J. Hassold. "Chromosome Abnormalities: Origin and Etiology in Abortions and Livebirths." In Human Genetics, 233–44. Berlin, Heidelberg: Springer Berlin Heidelberg, 1987. http://dx.doi.org/10.1007/978-3-642-71635-5_28.
Full textRowley, J. D. "Chromosome Abnormalities and Oncogenes in Human Leukemia and Lymphoma." In Human Genetics, 401–18. Berlin, Heidelberg: Springer Berlin Heidelberg, 1987. http://dx.doi.org/10.1007/978-3-642-71635-5_54.
Full textKalousek, Dagmar K., Naomi Fitch, and Barbara A. Paradice. "Chromosome Abnormalities and Phenotype in Previable Fetuses." In Pathology of the Human Embryo and Previable Fetus, 181–202. New York, NY: Springer New York, 1990. http://dx.doi.org/10.1007/978-1-4757-2111-9_9.
Full textStenman, G., J. Bullerdiek, S. Bartnitzke, P. Sahlin, E. Röijer, and J. Mark. "Specificity and Implications of Chromosome 12 Abnormalities in Pleomorphic Adenomas." In Chromosome 12 Aberrations in Human Solid Tumors, 3–15. Berlin, Heidelberg: Springer Berlin Heidelberg, 1994. http://dx.doi.org/10.1007/978-3-662-06255-5_1.
Full textDmitrovsky, E., E. Rodriguez, F. Samaniego, V. E. Reuter, W. H. Miller, N. L. Geller, G. J. Bosl, and R. S. K. Chaganti. "Analysis of Chromosome 12 Abnormalities in Male Germ Cell Cancers." In Pathobiology of Human Germ Cell Neoplasia, 119–23. Berlin, Heidelberg: Springer Berlin Heidelberg, 1991. http://dx.doi.org/10.1007/978-3-642-84485-0_13.
Full textBloomfield, C. D., D. C. Arthur, E. G. Levine, G. Frizzera, K. J. Gajl-Peczalska, T. W. LeBien, D. D. Hurd, and B. A. Peterson. "Chromosome Abnormalities in Malignant Lymphoma: Biologic and Clinical Correlations." In Modern Trends in Human Leukemia VI New Results in Clinical and Biological Research Including Pediatric Oncology, 145–49. Berlin, Heidelberg: Springer Berlin Heidelberg, 1985. http://dx.doi.org/10.1007/978-3-642-70385-0_32.
Full textConference papers on the topic "Human chromosome abnormalities"
Abbase, Saeid, Hassan Khotanlou, Mahlagha Afrasiabi, and Atefeh Asgari. "Automatic identification of chromosomal abnormalities in metaphase karyotype using paired images in human chromosomes." In 2015 2nd International Conference on Knowledge-Based Engineering and Innovation (KBEI). IEEE, 2015. http://dx.doi.org/10.1109/kbei.2015.7436140.
Full textMallakin, Ali, Kazushi Inoue, and Martin Guthold. "In-Situ Quantitative Analysis of Tumor Suppressor Protein (hDMP1) Using a Nanomechanical Cantilever Beam." In ASME 2005 International Design Engineering Technical Conferences and Computers and Information in Engineering Conference. ASMEDC, 2005. http://dx.doi.org/10.1115/detc2005-84503.
Full textAnu, A., R. Loganathan, and M. Umadevi. "An automated detection and morphological classification of numerical abnormalities in human chromosomes." In IET Chennai Fourth International Conference on Sustainable Energy and Intelligent Systems (SEISCON 2013). Institution of Engineering and Technology, 2013. http://dx.doi.org/10.1049/ic.2013.0337.
Full textBachor, Ruediger, Ella D. Reich, Klaus Kleinschmidt, and Richard E. Hautmann. "Detection of numerical chromosomal abnormalities (chr. 1 and 18) before and after photodynamic therapy of human bladder carcinoma cells in vitro." In BiOS Europe '97, edited by Kristian Berg, Benjamin Ehrenberg, Zvi Malik, Johan Moan, and Abraham Katzir. SPIE, 1997. http://dx.doi.org/10.1117/12.297814.
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