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Dissertations / Theses on the topic 'Chromosomal aneuploidies'

Author: Grafiati

Published: 4 June 2021

Last updated: 5 February 2022

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1

Zheng, Yun-Ling. "Rapid prenatal diagnosis of common fetal aneuploidies by fluorescence in situ hybridisation." Thesis, University of Cambridge, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.318418.

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2

Mohaddes, Ardebili Seyed Mojtaba. "Optimisation of interphase fluorescence in situ hybridisation for detection of common aneuploidies." Thesis, Connect to e-thesis, 1996. http://theses.gla.ac.uk/692/.

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Thesis (Ph.D.) - University of Glasgow, 1996.<br>Ph.D. thesis submitted to the Faculty of Medicine, Department of Division of Developmental Medicine, University of Glasgow, 1996. Includes bibliographical references: p. 118-132. Print version also available.

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3

Rutledge, Samuel Drew. "Investigating aneuploidy's role in cancer cell fitness under various conditions of stress." Thesis, Virginia Tech, 2015. http://hdl.handle.net/10919/56481.

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The gain or loss of whole chromosomes, known as aneuploidy, is a distinguishing feature of cancer cells. The rapid gain or loss of hundreds of genes dramatically alters a cell's genomic landscape and is typically detrimental to cell survival under normal conditions. However, cancer cells display enhanced proliferation and overcome multiple conditions of stress, suggesting aneuploidy may increase cellular fitness. Furthermore, distinct patterns of aneuploidy are found in cancers from different anatomical sites. Despite these observations, scant research has sought to examine the role of aneuplo

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4

Dummontier-Da, Silva Corinne. "Diagnostic rapide des principales aneuploi͏̈dies chromosomiques par hybridation in situ sur amniocytes non cultivés." Montpellier 1, 1998. http://www.theses.fr/1998MON11094.

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5

Baumgart, Mario [Verfasser]. "Zytogenetische Untersuchungen zur Bestimmung der chromosomalen Aneuploidie in der Karzinogenese sowie für die Frühdiagnostik des Pankreaskarzinoms / Mario Baumgart." Kassel : Universitätsbibliothek Kassel, 2009. http://d-nb.info/1007325283/34.

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6

Kahlke, Nikolas Sebastian [Verfasser], and Karsten [Akademischer Betreuer] Held. "Alterskorrelationen und EntstehungsmechanismenX-chromosomaler Aneuploidien in Lymphozytenkulturen von 42 Patientinnen mit habituellen Aborten / Nikolas Sebastian Kahlke ; Betreuer: Karsten Held." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2018. http://d-nb.info/1156462339/34.

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7

Kahlke, Nikolas Sebastian Verfasser], and Karsten [Akademischer Betreuer] [Held. "Alterskorrelationen und EntstehungsmechanismenX-chromosomaler Aneuploidien in Lymphozytenkulturen von 42 Patientinnen mit habituellen Aborten / Nikolas Sebastian Kahlke ; Betreuer: Karsten Held." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2018. http://d-nb.info/1156462339/34.

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8

Moraes, Renata Wendel de. "Validação de teste de reação em cadeia da polimerase fluorescente quantitativa (QF-PCR) para detecção de aneuploidias fetais." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/5/5139/tde-07032017-143706/.

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A reação em cadeia da polimerase fluorescente quantitativa (QF-PCR) é um método molecular de diagnóstico que se baseia na amplificação de pequenas sequências repetitivas do genoma (Short Tandem Repeats - STRs). Este método pode ser empregado para a detecção de aneuploidias durante a triagem pré-natal, porém, no Brasil, ainda não é utilizado nas instituições públicas. O objetivo do presente estudo foi avaliar a eficácia da QF-PCR em comparação com a citogenética na detecção de aneuploidias. Foram avaliadas 162 amostras de líquido amniótico de gestantes com risco fetal de aneuploidia aumentado.

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9

Bouftas, Nora. "Control of meiotic divisions in oocytes : a novel role for cyclin B3." Thesis, Sorbonne université, 2019. http://www.theses.fr/2019SORUS176.

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La méiose est un processus très réglementé composé de deux divisions successives, la méiose I et II, qui doivent être complétées dans l’ordre pour obtenir des gamètes haploïdes avec le nombre correct de chromosomes. La méiose chez les femelles est un processus sujet aux erreurs, où les erreurs de ségrégation créent des gamètes aneuploïdes. De plus, l'incidence d'aneuploïdie augmente avec l'âge. Comprendre la régulation de la méiose chez les femelles mammifères est donc essentiel. Les divisions méiotiques sont régulées par les cyclines associées à leurs partenaires catalytiques, les Cdks. J'ai

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10

Chevret, Edith. "Ségrégations méiotiques des chromosomes sexuels chez les sujets 46,XY et chez les sujets porteurs d'anomalies numériques de ces chromosomes : analyse par hybridation in situ fluorescente (FISH) sur les noyaux de spermatozoides humains." Université Joseph Fourier (Grenoble ; 1971-2015), 1995. http://www.theses.fr/1995GRE10072.

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Les segregations meiotiques des chromosomes 2, 7, 14 et 22 sont etudies par fish deux-couleurs sur les noyaux spermatiques interphasiques de sujets a caryotype somatique normal et de sujets porteurs d'une anomalie numerique constitutionnelle. Ces profils de segregation etant similaires chez les sujets 46,xy et chez les sujets 46,xy/47,xxy et 47,xyy, nous suggerons que la presence du gonosome surnumeraire n'a pas d'influence sur la segregation des autosomes. Les segregations meiotiques des chromosomes x et y sont etudiees par fish trois-couleurs. La cohybridation des deux sondes gonosomales et

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11

BISPO, Adriana Valéria Sales. "Investigação de mosaicismo críptico e potenciais fatores de riscos para a não disjunção cromossômica na Síndrome de Turner." Universidade Federal de Pernambuco, 2015. https://repositorio.ufpe.br/handle/123456789/16176.

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Submitted by Fabio Sobreira Campos da Costa (fabio.sobreira@ufpe.br) on 2016-03-30T13:52:07Z No. of bitstreams: 2 license_rdf: 1232 bytes, checksum: 66e71c371cc565284e70f40736c94386 (MD5) Tese_Adriana_Bispo_final_ficha catalografica.pdf: 4400523 bytes, checksum: b3e9eb79c58483144a4659be5ab2d45c (MD5)<br>Made available in DSpace on 2016-03-30T13:52:07Z (GMT). No. of bitstreams: 2 license_rdf: 1232 bytes, checksum: 66e71c371cc565284e70f40736c94386 (MD5) Tese_Adriana_Bispo_final_ficha catalografica.pdf: 4400523 bytes, checksum: b3e9eb79c58483144a4659be5ab2d45c (MD5) Previous issue date: 2

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12

Pellestor, Franck. "Recherche sur les chromosomes des gamètes de l'espèce humaine." Grenoble 1, 1988. http://www.theses.fr/1988GRE10009.

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13

Craciunescu-Dascalescu, Cristina-Mihaela. "L'hybridation in situ fluorescente : outil de diagnostic, de suivi et d'étude de la progression tumorale dans les proliférations malignes diffuses plasmocytaires et lymphoïdes B de bas grade." Université Joseph Fourier (Grenoble), 1998. http://www.theses.fr/1998GRE10141.

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L'etude des anomalies chromosomiques recurrentes permet d'identifier de nouvelles entites cytogenetiques, d'affiner la classification et d'ameliorer la comprehension de la pathogenie des divers syndromes lymphoproliferatifs chroniques. La technique d'hybridation in situ fluorescente (fish) sur noyau interphasique assure la detection d'anomalies structurales et numeriques, meme en absence de mitoses. La mise au point d'une technique fish double couleur nous a permis de detecter la translocation t(11 ; 14) dans des lymphomes a cellules du manteau et leucemies lymphoides chroniques ; cette transl

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14

Gonçalves, Renata de Castro. "A ativação da NADPH oxidase mediada pela superexpressão da Dissulfeto Isomerase proteica em células musculares lisas vasculares." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/5/5165/tde-09032017-121951/.

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A reação em cadeia da polimerase fluorescente quantitativa (QF-PCR) é um método molecular de diagnóstico que se baseia na amplificação de pequenas sequências repetitivas do genoma (Short Tandem Repeats - STRs). Este método pode ser empregado para a detecção de aneuploidias durante a triagem pré-natal, porém, no Brasil, ainda não é utilizado nas instituições públicas. O objetivo do presente estudo foi avaliar a eficácia da QF-PCR em comparação com a citogenética na detecção de aneuploidias. Foram avaliadas 162 amostras de líquido amniótico de gestantes com risco fetal de aneuploidia aumentado.

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15

Gao, Haijun. "Fish analysis of chromosomal aneuploidies in spermatozoa from severely infertile men undergoing intracytoplasmic sperm injection (ICSI)." Thesis, 2004. http://hdl.handle.net/2429/16195.

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BACKGROUND: The association between subsets of male infertility, oligoasthenoteratozoospermia (OAT), obstructive azoospermic (OA), non-obstructive azoospermia (NOA), and increased risk of having chromosomal abnormalities in the sperm has not been investigated. Chromosomal aneuploidy in sperm will be systematically investigated by standard methods with large sample sizes required to present significance. METHODS: Triple colour FISH analysis of chromosomes 18, X and Y and dual colour FISH analysis of chromosomes 13 and 21 were performed on spermatozoa retrieved from OAT patients, OA patie

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16

Δάβανος, Νικόλαος. "Συμβολή στη μοριακή προγεννητική διάγνωση ανευπλοειδιών και φύλου με χρήση μεθόδων αλυσιδωτής αντίδρασης πολυμεράσης". Thesis, 2008. http://nemertes.lis.upatras.gr/jspui/handle/10889/978.

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Η αναζήτηση και επινόηση νέων προσεγγίσεων για την προγεννητική διάγνωση χρωμοσωμικών συνδρόμων, που να συνδυάζουν ταχύτητα, αξιοπιστία και ασφάλεια για την μητέρα και το έμβρυο, είναι πάντοτε επίκαιρη και επιτακτική, ιδιαίτερα στην εποχή μας, όπου η πρόοδος της μοριακής βιολογίας και η αποκρυπτογράφηση του ανθρώπινου γονιδιώματος, προσφέρουν νέα γνώση και εργαλεία για την προσπάθεια αυτή. Στην παρούσα εργασία τυποποιήθηκε η μεθοδολογία της ποσοτικής φθορίζουσας αλυσιδωτής αντίδρασης της πολυμεράσης (Quantitative Fluorescence Polymerase Chain Reaction, QF-PCR) σε συνδυασμό με τη συμβατική PCR

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17

Alowaysi, Maryam. "An iPS-Based Approach to Study the Transcriptional and Epigenetic Consequences of X-Chromosome Aneuploidies." Diss., 2021. http://hdl.handle.net/10754/670867.

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Klinefelter Syndrome (KS) is a multisystemic disorder associated with a plethora of phenotypic features including mental retardation, cardiac abnormalities, osteoporosis, infertility, gynecomastia, type two diabetes and increased cancer risk. KS is the most common aneuploidy in humans (with a prevalence of 1:500 to 1:1000 born males) and is characterized by one or more supernumerary X-chromosomes (47-XXY, 48-XXXY, and 49-XXXXY karyotypes). While X-chromosome inactivation (XCI) represses extra Xs, few genes called “escape genes” elude the XCI mechanism and are actively transcribed f

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18

Fett, Susanne. "Expression der mitotischen Regulatorproteine Pds5A, Pds5B, Mad2A und Mad2B in astrozytären Tumoren im Kontext der chromosomalen Instabilität, Tumorprogression und Patientenprognose." Doctoral thesis, 2020. https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-205416.

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Die zunehmende Bedeutung der Molekularbiologie zeigt sich in der neuen WHO-Klassifikation von 2016 für ZNS-Tumoren und insbesondere astrozytäre Tumoren. Dabei gehört das Glioblastoma multiforme (GBM) mit einer äußerst ungünstigen Prognose zu den hoch-malignen Astrozytomen (WHO °IV) und ist durch eine ausgeprägte chromosomale Instabilität (CIN) gekennzeichnet. Der mitotische Spindelkontrollpunkt (SAC) und die zeitlich korrekte Auflösung der Schwesterchromatidkohäsion sorgen normalerweise für den fehlerfreien Ablauf der Mitose. Um der Ursache der CIN nachzugehen, wurden die Regulatorproteine des

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19

Hudosová, Lenka. "Karyotypy Giardia intestinalis." Master's thesis, 2012. http://www.nusl.cz/ntk/nusl-306707.

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Giardia intestinalis is a parasitic protist that causes one of the most common diarrheal disease of parasite origin. The cell of Giardia contains two nuclei with unknown number of chromosomes until recently. Karyotype was determined five years ago using conventional cytogenetic method by Tůmová and collaborators. In my work, I assessed karyotype of four isolates, six lines and three clonal lines by the same method. It was confirmed, that two nuclei within one cell could differ in chromosome number, the differences found were 1, 2 or 6 chromosomes. Aneuploid number of chromosomes was found too.

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20

Chirumamille, Nagesh. "Development of aneuploids of Pennisetum glauhum (L)R.Br as a base for high density chromosome mapping." Thesis, 1994. http://hdl.handle.net/2009/697.

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21

Sousa, Joana Odete Valério Paixão Teixeira de. "Estudo da potencial relação da aneuploidia com a condição fisiológica e o crescimento na amêijoa-boa ruditapes decussatus." Master's thesis, 2010. http://hdl.handle.net/10437/6914.

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Orientação : Gonçalo Calado ; co-orientação: Alexandra Leitão ; Domitília Matias<br>Tendo em conta o elevado interesse da amêijoa–boa, Ruditapes decussatus em termos económicos, em Portugal, este trabalho foi importante para a compreensão de um dos principais problemas no cultivo desta espécie, o crescimento. Nos últimos anos, para além de se observar uma grande variabilidade na taxa de crescimento, o tamanho dos indivíduos capturados tem vindo a sofrer, uma acentuada diminuição. Frequentemente, numa mesma ‘cohort’, esta espécie apresenta dois tipos de indivíduos, os que crescem mais rapidamen

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22

Schwab, Katharina Margarete [Verfasser]. "Etablierung der sequentiellen Multilokus-Fluoreszenz-in-situ-Hybridisierung : eine Methode zur Darstellung koinzidenter Onkogen-Amplifikationen und numerischer chromosomaler Aneuploidien an Gewebeschnitten am Beispiel des Barrett-Karzinoms / vorgelegt von Katharina Margarete Schwab." 2006. http://d-nb.info/978097793/34.

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