Academic literature on the topic 'Normal Karyotype'
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Journal articles on the topic "Normal Karyotype"
Steidl, Christian, Rainer Schabla, Ulrich Germing, et al. "Sequential Cytogenetic Analyses of 577 Patients with Myelodysplastic Syndromes: Correlations between Initial Karyotype, Cytogenetic Dynamics, and Clinical Course." Blood 106, no. 11 (2005): 2531. http://dx.doi.org/10.1182/blood.v106.11.2531.2531.
Full textPinar, Halit, Marshall Carpenter, Benjamin J. Martin, and Umadevi Tantravahi. "Utility of Fetal Karyotype in the Evaluation of Phenotypically Abnormal Stillbirths." Pediatric and Developmental Pathology 12, no. 3 (2009): 217–21. http://dx.doi.org/10.2350/07-07-0307.1.
Full textGöhring, Gudrun, Kathrin Thomay, Caroline Fedder, Winfried Hofmann, Hans Heinrich Kreipe, and Brigitte Schlegelberger. "Telomere Shortening, TP53 Mutations and Deletions in Chronic Lymphocytic Leukemia Result in Increased Chromosomal Instability and Breakpoint Clustering in Heterochromatic Regions." Blood 128, no. 22 (2016): 3220. http://dx.doi.org/10.1182/blood.v128.22.3220.3220.
Full textFeng, Qiutian, and Jian Huang. "Cytogenetic Abnormalities Lead to Poor Prognosis in Patients with Myelofibrosis, Especially Postessential Thrombocythemia Myelofibrosis and Postpolycythemia Vera Myelofibrosis: A Multicenter Retrospective Study." Blood 144, Supplement 1 (2024): 6638. https://doi.org/10.1182/blood-2024-205559.
Full textZeng, Xiangzong, Min Dai, Yu Zhang, Lingling Zhou, Ya Zhou, and Qifa Liu. "Somatic Mutations Predict Poor Prognosis in Myelodysplastic Syndrome Patients with Normal Karyotypes." Blood 136, Supplement 1 (2020): 44–45. http://dx.doi.org/10.1182/blood-2020-138368.
Full textXiao, Yajuan, Yuanlu Huang, Na Xu, et al. "Chromosomal Instability: A Probable Unfavorable Prognostic Factor For Patients Of Myeloidysplastic Syndromes." Blood 122, no. 21 (2013): 5243. http://dx.doi.org/10.1182/blood.v122.21.5243.5243.
Full textAlmefty, Kaith K., Svetlana Pravdenkova, Jeffrey R. Sawyer, and Ossama Al-Mefty. "Impact of cytogenetic abnormalities on the management of skull base chordomas." Journal of Neurosurgery 110, no. 4 (2009): 715–24. http://dx.doi.org/10.3171/2008.9.jns08285.
Full textHasanova A.T. and Jafarova G.A. "Relationship of human heterochromatin and congenital malformations." Journal of Theoretical, Clinical and Experimental Morphology 2, no. 3-4 (2020): 54–56. http://dx.doi.org/10.28942/jtcem.v2i3-4.121.
Full textGuha, Debasree, and Sayan Banerjee. "Cyclopia syndrome with normal karyotype." Indian Journal of Medical Research 152, no. 7 (2020): 57. http://dx.doi.org/10.4103/ijmr.ijmr_1893_19.
Full textBeck, Richard J., and Noemi Andor. "Abstract 2486: Decoding tumor evolution through fitness landscapes of aneuploid cells." Cancer Research 85, no. 8_Supplement_1 (2025): 2486. https://doi.org/10.1158/1538-7445.am2025-2486.
Full textDissertations / Theses on the topic "Normal Karyotype"
Smith, S. L. L. "Elucidating molecular mechanisms of leukaemogenesis in normal karyotype AML." Thesis, University College London (University of London), 2008. http://discovery.ucl.ac.uk/1445120/.
Full textTraikov, Sofia. "Loss of heterozygosity in acute myeloid leukaemia with normal karyotype." Doctoral thesis, Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2009. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-25082.
Full textRomagnoli, Simone. "Identification of Structural Variants in Acute Myeloid Leukemia with normal karyotype patients by using long-reads sequencing technology." Doctoral thesis, Università di Siena, 2021. http://hdl.handle.net/11365/1157520.
Full textGrummitt, Charles Gordon. "The discovery and characterisation of the C-terminal domain of nucleophosmin : implications for Acute Myeloid Leukaemia with normal karyotype." Thesis, University of Cambridge, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.612508.
Full textTraikov, Sofia [Verfasser], Gerold [Akademischer Betreuer] Barth, and Rolf [Akademischer Betreuer] Jessberger. "Loss of heterozygosity in acute myeloid leukaemia with normal karyotype / Sofia Traikov. Gutachter: Gerold Barth ; Rolf Jessberger. Betreuer: Gerold Barth." Dresden : Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2009. http://d-nb.info/1063279976/34.
Full textBorg, Isabella. "A clinical and molecular cytogenetic study of patients with mental retardation, developmental delay and dysmorphism associated with an apparently normal or balanced rearranged karyotype." Thesis, University of Cambridge, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.619597.
Full textMatejka, Michèle. "Etude cytogenetique du mouton (ovis aries l. ) : caryotype normal et variants chromosomiques." Paris 7, 1987. http://www.theses.fr/1987PA077055.
Full textKOH, THONG CHUAN EUGENE. "Down regulation of NLK by MIR-221/222 modulates chemosensitivity to glucocorticoids in pediatric normal karyotype b-cell precursor acute lymphoblastic leukemia. La downregolazione di nemo-like kinase indotta dai MIR-221/222 modula chemiosensibilità ai glucocorticoidi nella pediatrico b-cell precursor leucemia linfattica acuta." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2012. http://hdl.handle.net/10281/30498.
Full textKirály, Franz. "Vergleich verschiedener Postremissionsstrategien bei der akuten myeloischen Leukämie mit normalem Karyotyp." [S.l. : s.n.], 2008. http://nbn-resolving.de/urn:nbn:de:bsz:289-vts-64963.
Full textStirner, Christoph [Verfasser]. "Evaluation prognostischer Genexpressionsprofile bei der AML mit normalem Karyotyp / Christoph Stirner." Ulm : Universität Ulm. Medizinische Fakultät, 2011. http://d-nb.info/1018024670/34.
Full textBooks on the topic "Normal Karyotype"
Archer, Nick, and Nicky Manning. Nuchal translucency and the heart. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199230709.003.0019.
Full textBook chapters on the topic "Normal Karyotype"
Velagaleti, Gopalrao V. N., and Vijay S. Tonk. "Methods of Studying Human Chromosomes and Nomenclature. The Normal Human Karyotype." In Atlas of Human Chromosome Heteromorphisms. Springer Netherlands, 2004. http://dx.doi.org/10.1007/978-94-017-0433-5_2.
Full textLemež, P., J. Gáliková, and T. Haas. "Are there Two Main Categories of de Novo Acute Myeloid Leukemias with a Normal Karyotype?" In Haematology and Blood Transfusion / Hämatologie und Bluttransfusion. Springer Berlin Heidelberg, 2001. http://dx.doi.org/10.1007/978-3-642-18156-6_10.
Full textChudoba, I., S. Metzkel, K. Blumenstengel, et al. "FISH Analysis in Acute Leukemia with Initially Abnormal Karyotypes and Normal Karyotypes in Relapse." In Acute Leukemias VI. Springer Berlin Heidelberg, 1997. http://dx.doi.org/10.1007/978-3-642-60377-8_10.
Full textRushton, D. I. "The Nature and Causes of Spontaneous Abortions with Normal Karyotypes." In Issues and Reviews in Teratology. Springer US, 1985. http://dx.doi.org/10.1007/978-1-4613-2495-9_2.
Full textHasserjian, R. P. "Normal-Karyotype Acute Myeloid Leukemia." In Pathobiology of Human Disease. Elsevier, 2014. http://dx.doi.org/10.1016/b978-0-12-386456-7.04103-4.
Full textMeschede, Dieter, and Eberhard Nieschlag. "Klinefelter’s syndrome." In Oxford Textbook of Endocrinology and Diabetes. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199235292.003.9076.
Full textMeschede, Dieter, and Eberhard Nieschlag. "XYY male." In Oxford Textbook of Endocrinology and Diabetes. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199235292.003.9082.
Full textAhmed, S. Faisal, and Angela K. Lucas-Herald. "Normal and abnormal sexual differentiation." In Oxford Textbook of Medicine, edited by Mark Gurnell. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0257.
Full textButler, Gary. "Normal growth and its disorders." In Oxford Textbook of Medicine, edited by Mark Gurnell. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0255.
Full textButler, Gary, and Jeremy Kirk. "Differences of sex development (DSD)." In Paediatric Endocrinology and Diabetes. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198786337.003.0011.
Full textConference papers on the topic "Normal Karyotype"
Fyrberg, Anna, Kourosh Lofti, Esbjorn Paul, Christer Paul, Hareth Nahi, and Henrik Gréen. "Abstract 2757: NT5C2 single nucleotide polymorphisms affects survival and response inde novoAML patients with normal karyotype." 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.am10-2757.
Full textWolff, BM, YG Oliveira, VT Almeida, et al. "CYTOGENOMIC DELINEATION OF A RARE 15Q TRIPLICATION CASE." In Resumos do 54º Congresso Brasileiro de Patologia Clínica/Medicina Laboratorial. Zeppelini Editorial e Comunicação, 2022. http://dx.doi.org/10.5327/1516-3180.140s1.5930.
Full textSilva, Bruno Custódio, Guilherme Parmigiani Bobsin, Raquel dos Santos Ramos, et al. "Clinical and neurological findings of a patient with a complex chromosome 5 alteration." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.080.
Full textJakobsen Falk, Ingrid, Anna Fyrberg, Monica Hermanson, et al. "Abstract 1170: Correlation between cytidine deaminase single nucleotide polymorphisms andin vitrodrug sensitivity, DNA methylation and outcome in normal karyotype acute myelogenous leukemia." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-1170.
Full textYouk, Jeonghwan, Sunghoon Cho, Daeyoon Kim, et al. "Abstract 5225: CDK11B, PTPRN2 and WDPCP were frequently duplicated genes in refractory/relapsed normal karyotype AML patients: Identifying structural variations using whole genome sequencing." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-5225.
Full textSilva, Bruno Custódio, Thais Vanessa Salvador, Jéssica Karine Hartmann, et al. "Neurological findings in a patient with mosaic chromosome 8 trisomy." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.071.
Full textElias, Stefany, and Maria Luiza Benevides. "Verheij syndrome: a rare cause of intellectual disability." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.560.
Full textSilva, Bruno Custódio, Tainá Alano, Lennon Vidori, Paulo Ricardo Gazzola Zen, and Rafael Fabiano Machado Rosa. "Multiple contractures and their relationship with congenital amyoplasia." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.070.
Full textSilva, Bruno Custódio, Maria Isabelle Nakano Vieira, Gisele Delazeri, et al. "Neurological findings of a patient with Patau syndrome and a nonusual clinical presentation." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.073.
Full textOliveira, Jefferson Borges de, Caroline Berthier Zanin, Gustavo Carreira Henriques, et al. "Pallister-Hall Syndrome - case report." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.575.
Full textReports on the topic "Normal Karyotype"
Tse, Kai Yeung, Ilham Utama Surya, Rima Irwinda, et al. Diagnostic Yield of Exome Sequencing in Fetuses with Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2023. http://dx.doi.org/10.37766/inplasy2023.5.0048.
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