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Dissertations / Theses on the topic 'Normal Karyotype'

Author: Grafiati

Published: 9 March 2023

Last updated: 31 July 2025

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1

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/.

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The aim of this thesis was to examine the role that gene specific mutations play in leukaemogenesis of normal karyotype (NK) acute myeloid leukaemias (AMLs), by studying the number of genes involved, types of mutations, order by which they arise and their function. AML is a stem cell disease in which the bulk of the disease is perpetuated by a rare population of leukaemic stem cells (LSCs), which arise due to an accumulation of genetic events within the target cell. Eight genes known to be mutated in AML were screened from a panel of 88 NK AML patients. One hundred and twenty-seven mutations w

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2

Traikov, 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.

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Loss of heterozygosity (LOH) is detectable in many forms of cancer including leukaemia. It contributes to tumorigenesis through the loss of one of the two alleles of one tumor suppressor gene at a given locus, caused by deletion or uniparental disomy (UPD). UPD can only be the result of homologous recombination. Little is known about the mechanisms of UPD and what connection this aberration has with the outcome of this disease. In this study, 146 patients with primary AML were analysed using a novel technique based on single nucleotide polymorphisms (SNPs). Leukaemic cells and healthy T-cell

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3

Romagnoli, 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.

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Acute Myeloid Leukemia (AML) accounts for approximately 25% of all leukemias in adults in the Western world, and therefore is the most frequent form of blood neoplasia. Leukemic stem cells show abnormal proliferation, activation of antiapoptotic pathways and the impairment normal cell differentiation resulting in the dysregulated production of not functional blood cells, known as blast. AML is an aggressive disease, with a relative survival rate for all ages 5 years after diagnosis of 29.5%, the clinical manifestations of AML reflect the accumulation of malignant, poorly differentiated myeloid

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4

Grummitt, 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.

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5

Traikov, 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.

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6

Borg, 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.

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7

Matejka, Michèle. "Etude cytogenetique du mouton (ovis aries l. ) : caryotype normal et variants chromosomiques." Paris 7, 1987. http://www.theses.fr/1987PA077055.

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8

KOH, 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.

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Normal karyotype pediatric B-cell precursor ALL patients are heterogeneous with respect to chemotherapy response, relapse rates and prognosis and the reason is unknown. These patients are treated with a standard protocol, and stratified using MRD methodology that shows they have variable responses and predicted outcomes. This study aims to determine the reasons behind such heterogeneity. This study shows that through miRNA profiling, miR-221/222 are differentially expressed in normal karyotype patients and are up regulated in Poor Responder patients. Through proliferation, apoptosis, viability

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9

Király, 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.

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10

Stirner, 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.

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11

Stolze, Ina Susanne. "CEBPA-Mutationen bei jüngeren Erwachsenen mit akuter myeloischer Leukämie und normalem Karyotyp." [S.l. : s.n.], 2006. http://nbn-resolving.de/urn:nbn:de:bsz:289-vts-56935.

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12

Hesse, Raffaela [Verfasser]. "Vergleichende Untersuchung der Telomerverlängerungsmechanismen in Zellen mit normalem und aberrantem Karyotyp / Raffaella Hesse." Ulm : Universität Ulm. Medizinische Fakultät, 2011. http://d-nb.info/1016716915/34.

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13

Kranz, Raphael [Verfasser]. "Molekulargenetische Klassifikation und Risikostratifizierung akuter myeloischer Leukämien des normalen Karyotyps basierend auf Genexpressionsanalysen / Raphael Kranz." Ulm : Universität Ulm. Medizinische Fakultät, 2012. http://d-nb.info/1019563389/34.

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14

Nuber, Verena [Verfasser]. "Quantitative Mutationsanalyse des FLT3-Gens bei der akuten myeloischen Leukämie mit normalem Karyotyp / Verena Nuber." Ulm : Universität Ulm. Medizinische Fakultät, 2012. http://d-nb.info/1024931269/34.

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15

Moschny, Simone [Verfasser]. "Die prognostische Bedeutung von Mutationen im WT1-Gen bei der akuten myeloischen Leukämie mit normalem Karyotyp / Simone Moschny." Ulm : Universität Ulm. Medizinische Fakultät, 2013. http://d-nb.info/1038005019/34.

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16

Zimmermann, Andreas [Verfasser]. "Inzidenz und prognostische Bedeutung von RUNX1 Mutationen bei Patienten mit akuter myeloischer Leukämie (AML) und normalem Karyotyp / Andreas Zimmermann." Ulm : Universität Ulm. Medizinische Fakultät, 2015. http://d-nb.info/1071629379/34.

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17

Mendla, Corinna [Verfasser]. "Inzidenz und prognostischen Bedeutung von C/EBPalpha-Mutationen bei der akuten myeloischen Leukämie des älteren Patienten (> 60 Jahre) mit normalem Karyotyp im Rahmen der AML-06-04-Studie / Corinna Mendla." Ulm : Universität Ulm. Medizinische Fakultät, 2013. http://d-nb.info/1038005353/34.

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18

"Characterizing the spectrum of chromosome copy number variants among fetuses with increased nuchal translucency and normal karyotype by chromosome microarray analysis." 2014. http://library.cuhk.edu.hk/record=b6115729.

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目前廣泛應用于胎兒醫學的唐氏綜合症篩查法，即結合早孕期胎兒頸項透明層的超聲檢查，及母體血清生化指標的綜合篩查法。頸項透明層是指在早孕期利用超聲檢測到的胎兒頸后的皮下積水，其作為預測胎兒異常的一項重要“軟指標，其臨床意義，尤其是與胎兒染色體異常及器官結構異常之間的關係，逐漸得到深入的認識，但其形成機制尚未明確。現在已知有一百餘種畸形及遺傳綜合征與胎兒頸項透明層增厚相關，但其染色體異常譜系，尤其是亞顯微的染色體異常仍有待明確。大部分頸項透明層增厚但核型正常的胎兒預後良好，但約3-10%的這部分胎兒會伴有畸形或出生后的神經智力發育缺陷。而傳統核型分析無法檢測到亞顯微的染色體異常，從而無法判斷這部分核型正常卻伴有缺陷的胎兒是否因為這類染色體異常而致病。<br>微陣列比較基因組雜交芯片作為檢測兒童發育遲緩者及器官結構異常原因的重要手段已廣泛應用于臨床。在染色體核型正常的胎兒中，若伴有器官結構異常的胎兒，5-12%被檢出與該畸形相關的微缺失及微重複；若僅伴有孕婦高齡或唐氏篩查高危，則微缺失及微重複檢出率約1%。<br>該課題旨在研究頸項透明層增厚但核型正常的胎兒中，染色體拷貝數變異發生的頻率及頻譜；評估微陣列比較基因組雜交芯片在協助臨床判斷胎兒預後中的作用。因此，我們開展該多中心隊列研究，通過納入449例頸項透明層厚度≧3.5 mm但正常核型胎兒的，檢測其染色體拷貝數變異，監測并記錄其圍產、產

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19

Király, Franz [Verfasser]. "Vergleich verschiedener Postremissionsstrategien bei der akuten myeloischen Leukämie mit normalem Karyotyp / von Franz Király." 2007. http://d-nb.info/997981806/34.

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20

Stolze, Ina Susanne [Verfasser]. "CEBPA-Mutationen bei jüngeren Erwachsenen mit akuter myeloischer Leukämie und normalem Karyotyp / vorgelegt von Ina Susanne Stolze." 2005. http://d-nb.info/995413312/34.

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21

Boenigk-Ulrich, Regina. "Inzidenz und prognostische Bedeutung partieller Tandemduplikationen des MLL- (mixed lineage leukemia) Gens bei der akuten myeloischen Leukämie des Erwachsenen (16-60 Jahre) mit normalem Karyotyp /." 2005. http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&doc_number=015452151&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA.

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22

Mwale, Emanuel. "Jesus Christ’s humanity in the contexts of the pre-fall and post-fall natures of humanity: a comparative and critical evaluative study of the views of Jack Sequeira, Millard J. Erickson and Norman R. Gulley." Thesis, 2019. http://hdl.handle.net/10500/27660.

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Bibliography: leaves 653-669<br>Before God created human beings, He devised a plan to save them in case they sinned. In this plan, the second Person of the Godhead would become human. Thus, the incarnation of the second Person of the Godhead was solely for the purpose of saving fallen, sinful human beings. There would have been no incarnation if human beings had not sinned. Thus, the nature of the mission that necessitated the incarnation determined what kind of human nature Jesus was to assume. It was sin that necessitated the incarnation – sin as a tendency and sin as an act of disobedience

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