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Dissertations / Theses on the topic 'Aneuploidiya'

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Published: 7 June 2025

Last updated: 2 August 2025

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1

Cortez, Beatriz de Araujo. "Diferentes abordagens para o entendimento da aneuploidia: interferindo na mitose com o uso de crisotila e vincristina." Universidade de São Paulo, 2014. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-15122014-143541/.

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A aneuploidia é uma característica dos tumores sólidos. Ela pode ser resultado de diferentes erros durante a mitose, como a amplificação centrossômica, mitoses multipolares, e anormalidades durante a citocinese. Hoje se sabe que a aneuploidia pode estar relacionada à supressão ou progressão tumoral dependendo do grau da aneuploidia e do contexto genético das células, e assim esforços vem sendo feitos a fim de elucidar quais erros durante a mitose estão relacionados à formação de células aneuploides viáveis e inviáveis. Estudos prévios do nosso grupo mostraram que tratamentos de células em cult

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Cortez, Beatriz de Araujo. "Interação da crisotila com células de carcinoma de pulmão humano em cultura: interferência com a mitose utilizando genes repórteres e microscopia em tempo real e estudo do potencial genotóxico." Universidade de São Paulo, 2010. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-05042010-134617/.

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Asbesto é um nome geral dado a seis tipos de fibras minerais encontradas naturalmente na crosta terrestre. Estas fibras vêm sendo exploradas industrialmente desde 1970, porém diversos trabalhadores expostos às fibras apresentaram patologias no trato respiratório, como fibroses e carcinomas. Alguns tipos de fibra foram banidos do mercado, porém o tipo de asbesto crisotila ainda pode ser comercializado na maioria dos países. Estudos in vivo e in vitro tentam elucidar as alterações causadas pela exposição à asbesto nos tecidos e nas células que possam estar relacionadas ao aparecimento de doenças

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Santos-Silva, Alan Roger 1981. "Analise das caracteristicas clinico-patologicas e da ploidia do DNA em pacientes jovens com carcinoma espinocelular de lingua : um estudo colaborativo internacional." [s.n.], 2010. http://repositorio.unicamp.br/jspui/handle/REPOSIP/287850.

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Orientador: Marcio Ajudarte Lopes<br>Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba<br>Made available in DSpace on 2018-08-15T17:55:17Z (GMT). No. of bitstreams: 1 Santos-Silva_AlanRoger_D.pdf: 1071923 bytes, checksum: 996d56a5e4895653ebcd0b9e1636e7e2 (MD5) Previous issue date: 2010<br>Resumo: Predominantemente, o carcinoma espinocelular (CEC) de boca afeta pacientes idosos e com frequência se desenvolve em associação com o consumo de fumo e álcool. Todavia, evidências científicas têm sugerido o aumento da incidência desta malignidade em paciente

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Nakagawa, Elly Kayoko. "Estudo do significado biológico da multinucleação induzida por vincristina em células em cultura." Universidade de São Paulo, 2006. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-19092007-173841/.

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O estudo de agentes que interferem no funcionamento das proteínas relacionadas com o ciclo celular é importante para a compreensão dos processos de transformação e de morte celular. Alterações de ploidia, embora presentes na maioria dos tumores humanos, não têm ainda seu papel conhecido no processo de oncogênese. A alteração do número cromossômico é conseqüência primária de erros que envolvem o fuso mitótico e o cinetócoro. Dessa maneira, drogas que agem sobre os microtúbulos são consideradas aneugênicas potenciais. O presente trabalho enfocou o estudo do mecanismo pelo qual drogas que atuam s

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5

Romão, Daniela 1993. "Systemic effects of chromosomal instability induced tumorigenesis : A role of JAK/STAT and cytokine secretion in coupling inflammation to maturation defects in Drosophila." Doctoral thesis, TDX (Tesis Doctorals en Xarxa), 2021. http://hdl.handle.net/10803/672640.

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Alterations in developmental transitions are common among animals to compensate for growth disturbances. These variations are usually a consequence of altered steroidal hormone production resulting in puberty delays. Inflammation and high cytokine release seem to be behind these altercations, although in humans no concrete model has been put forward. Here we use a Drosophila epithelial model of Chromosomal Instability-driven malignant transformation to unravel a role of the Upd3 cytokine and JAK/STAT signaling in coupling the development of these tumors with a delay in metamorphosis. We pre

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6

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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7

Sheltzer, Jason (Jason Meyer). "Several consequences of aneuploidy." Thesis, Massachusetts Institute of Technology, 2015. http://hdl.handle.net/1721.1/101353.

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Thesis: Ph. D., Massachusetts Institute of Technology, Department of Biology, September 2015.<br>Cataloged from PDF version of thesis. "June 2015." Written on title page: "September 2015."<br>Includes bibliographical references.<br>Whole-chromosome aneuploidy, or a karyotype that is not a multiple of the haploid complement, is the most common cause of miscarriage and developmental delay in humans. Aneuploidy is also a hallmark of cancer: greater than 90% of tumors display chromosomal copy number alterations. Thus, understanding the consequences of aneuploidy has broad relevance for human healt

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8

Gouvêa, Adriele Ferreira. "Análise clinicopatológica, da expressão imunoistoquímica de KI-67, MCM 2 e geminina e da ploidia do DNA em leucoplasia verrucosa proliferativa." [s.n.], 2011. http://repositorio.unicamp.br/jspui/handle/REPOSIP/287849.

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Orientador: Marcio Ajudarte Lopes<br>Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba<br>Made available in DSpace on 2018-08-17T15:24:01Z (GMT). No. of bitstreams: 1 Gouvea_AdrieleFerreira_D.pdf: 1529519 bytes, checksum: 67d58c675522b5dd769d5fcad163d152 (MD5) Previous issue date: 2011<br>Resumo: Leucoplasia verrucosa proliferativa (LVP) tem como principais características acometer principalmente mulheres, com idades acima dos 60 anos, sem hábitos nocivos, com lesões multifocais, recorrentes após excisão e com altas taxas de malignização. Alguns est

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9

Morhan, Alina Raluca. "Aneuploidy in pancreatic intraepithelial neoplasia." Thesis, Swansea University, 2015. https://cronfa.swan.ac.uk/Record/cronfa42775.

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Pancreatic ductal adenocarcinoma has one of the most unfavourable prognoses and survival patterns. Pancreatic intraepithelial ductal neoplasias (PanINs) 1-3 are microscopic precursors which display genetic and epigenetic changes leading to adenocarcinoma. We investigated the chromosomal numeric changes for chromosomes 1, 6, 9 and 18 using fluorescence in situ hybridization in the progressing intraepithelial neoplasias and the corresponding tumours. We also assessed the protein levels for mitotic checkpoint proteins Mad2 and BubRl using immunohistochemistry and applied correlation models to der

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10

Hermine, T. "Radiation induced aneuploidy in somatic cells." Thesis, Swansea University, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.637267.

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This thesis describes the cytogenetic effects of X-irradiation on chromosome segregation. Metaphase analysis of G0 irradiated human lymphocytes showed that X-irradiation resulted mainly in structural aberrations but that non-disjunction (measured as chromosome gains) and polyploidy were also induced. The technology used involved fluorescence <I>in-situ</I> hybridisation with whole chromosome probes for chromosomes 2 & 8. Radiation induced micronuclei were measured in both human fibroblasts and Chinese hamster cell lines using the cytokinesis block micronucleus assay coupled with kinetochore la

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11

Mamas, T. "Investigation of aneuploidy in preimplantation embryos." Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/1387818/.

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Aneuploidy is common in human preimplantation embryos. This thesis examines aneuploidy detection using an array platform, aneuploidy in embryos from fertile couples and recombination in gametes through the detection of cross-over events in embryos. The first aim of this project was the optimisation of array comparative genomic hybridisation (aCGH) to examine all chromosomes in single blastomeres and trophectoderm samples from embryos, prior to clinical implementation. Accurate detection of errors was possible on single cells from epithelial cell lines of known chromosomal status. The same cell

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Curado, Roberta Machado de Oliveira Frota. "Infertilidade masculina: com oligozoospermia estudo citogenético em indivíduos ou azoospermia." Universidade Federal de Goiás, 2015. http://repositorio.bc.ufg.br/tede/handle/tede/4817.

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Submitted by Cássia Santos (cassia.bcufg@gmail.com) on 2015-10-28T13:15:45Z No. of bitstreams: 3 Dissertação - Roberta Machado de Oliveira Frota Curado - 2015.pdf: 1412350 bytes, checksum: 3488f3ea9d285b268adb991ca619df94 (MD5) anexos - dissertacao - roberta m de o f curado.pdf: 1349907 bytes, checksum: d9adb8c0cfdeca8fe004bc23cde29b9b (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5)<br>Approved for entry into archive by Luciana Ferreira (lucgeral@gmail.com) on 2015-10-28T14:56:17Z (GMT) No. of bitstreams: 3 Dissertação - Roberta Machado de Oliveira Frota Curado

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Moreira, Marta Fernandes. "Pesquisa rápida de aneuploidias em diagnóstico prénatal: recomendações." Master's thesis, Universidade de Aveiro, 2013. http://hdl.handle.net/10773/12630.

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Mestrado em Biologia Aplicada<br>O diagnóstico prénatal (DPN) tem demonstrado ser cada vez mais importante na deteção precoce de um vasto número de anomalias no feto. A grande maioria das anomalias cromossómicas detetadas em DPN devem-se a alterações numéricas dos cromossomas 13, 18, 21, X e Y. Para a pesquisa rápida das aneuploidias mais comuns, são utilizadas técnicas como a MLPA e a QF-PCR que permitem o diagnóstico rápido mas direcionado, possibilitando uma intervenção clínica mais atempada, reduzindo a ansiedade dos progenitores. Com este estudo pretendeu-se delinear a estratégia mais ad

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14

Mosley, Alycia. "Chromosomal aneuploidy in the developing mammalian cortex." Diss., [La Jolla] : University of California, San Diego, 2010. http://wwwlib.umi.com/cr/ucsd/fullcit?p3398262.

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Thesis (Ph. D.)--University of California, San Diego, 2010.<br>Title from first page of PDF file (viewed May 6, 2010). Available via ProQuest Digital Dissertations. Vita. Includes bibliographical references.

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15

Stingele, Silvia. "The consequences of aneuploidy in human cells." Diss., Ludwig-Maximilians-Universität München, 2013. http://nbn-resolving.de/urn:nbn:de:bvb:19-156691.

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Aneuploidy is a change in number or structure of one or more chromosomes that are not a multiple of the whole chromosome set. One of the best known pathological aneuploidies is trisomy 21 (Down syndrome), with chromosome 21 present in three instead of two copies. Patients with Down syndrome display severe mental retardation and growth defects. In fact, most abnormal aneuploid karyotypes lead to spontaneous abortions during embryogenesis, indicating that aneuploidy is not well tolerated in humans. Aneuploidy was also shown to be a common hallmark of cancer tissues; however, the debate is ongoin

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Bourner, R. D. P. "Investigations into chromosome-specific susceptibilities to aneuploidy." Thesis, Swansea University, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.636130.

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The study of chemically induced aneuploidy in mammalian cells is generally conducted by the selection of one or a few chromosomes to serve as an index for total aneuploidy within the test-system used. However, a large body of evidence exists to suggest that not all chromosomes undergo non-disjunction and/or chromosome loss at the same frequency. Hence the behaviour of one selected chromosome may not be adequately parallel total cell events, whether experimentally induced or spontaneously arising. A review of the evidence for chromosomal differences in susceptibility to aneuploidy was made, and

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Zhu, Jin. "The consequences of aneuploidy in budding yeast." Thesis, Open University, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.607484.

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Aneuploidy is defined as a state of having an abnormal number of chromosomes within a cell. In human, congenital aneuploidy is the leading cause of developmental abnormality and mental retardation. Somatically acquired aneuploidy has long been known as a hallmark of cancer genome. While multiple studies have focused on dissecting the molecular mechanisms leading to aneuploidy, little has been done to address its consequences. Using budding yeast Saccharomyces cerevisiae as model organism, we first asked whether and how aneuploidy could bring about phenotypic variation. We monitored the growth

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Prabhu, Vineet R. (Vineet Ranjan). "Preventing aneuploidy and the consequences of failure." Thesis, Massachusetts Institute of Technology, 2009. http://hdl.handle.net/1721.1/47882.

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Thesis (Ph. D.)--Massachusetts Institute of Technology, Dept. of Biology, 2009.<br>Includes bibliographical references.<br>The maintenance and transmission of genetic material is critical for the survival of cells and organisms. Sexually reproducing diploid organisms undergo meiosis to produce haploid gametes, so that the resulting progeny are diploid. During meiosis I homologous chromosomes segregate to opposite poles, whereas sister chromatids segregate in meiosis II. A failure to segregate chromosomes correctly in either division results in offspring having an incorrect chromosome number: a

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Oromendia, Ana Belen. "Aneuploidy causes proteotoxic stress in Saccharomyces cerevisiae." Thesis, Massachusetts Institute of Technology, 2014. http://hdl.handle.net/1721.1/91056.

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Thesis: Ph. D., Massachusetts Institute of Technology, Department of Biology, 2014.<br>Cataloged from PDF version of thesis. "June 2014."<br>Includes bibliographical references.<br>Gains or losses of entire chromosomes lead to aneuploidy, a condition tolerated poorly in all eukaryotes analyzed to date. How aneuploidy affects organismal and cellular physiology is only beginning to be understood. Aneuploidy also has a profound impact on human health; it is the leading cause of mental retardation and spontaneous abortions and a key characteristic of cancer, as more than 90% of all solid human tum

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O'Neill, Gerard Thomas. "Cytogenetic analysis of ethanol-induced meiotic aneuploidy." Thesis, University of Edinburgh, 1989. http://hdl.handle.net/1842/19206.

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Silberman, Rebecca Estelle. "Defining the role of aneuploidy throughout tumorigenesis." Thesis, Massachusetts Institute of Technology, 2021. https://hdl.handle.net/1721.1/130665.

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Thesis: Ph. D., Massachusetts Institute of Technology, Department of Biology, February, 2021<br>Cataloged from the official PDF of thesis.<br>Includes bibliographical references.<br>Aneuploidy is a state of genome imbalance which alters the copy number of whole chromosomes. While aneuploidy is rare in healthy tissues, it is one of the most common features of cancerous tumors. Studies of aneuploid yeast and aneuploid mammalian cells growing in culture revealed that aneuploidy induces cellular stress and slows proliferation. So it is surprising that aneuploidy is a hallmark of cancer, a disease

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Kucharavy, Andrei. "Molecular mechanisms of aneuploidy-mediated stress-resistance." Electronic Thesis or Diss., Paris 6, 2017. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2017PA066734.pdf.

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L’aneuploïdie a été historiquement associé à des phénotypes nuisibles, notamment le cancer et le syndrome de Down. Cependant, des résultats expérimentaux récents suggèrent que l’aneuploïdie permettrait l'adaptation à des stresseurs variés, notamment résistance aux médicaments, en rendant la compréhension critique au domaine biomédical. Cependant, les mécanismes moléculaires permettant cette adaptation restaient à élucider. Une telle élucidation selon plusieurs axes a été justement l'objet de ce travail. Premièrement, nous avons développé un modèle mathématique représentant l'adaptation aux env

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Pollice, Erika Lourenço. "Frequencia das principais mutações no gene da cistationina beta sintetase em portadoras de sindrome de turner e mães de portadores de Sindrome de Down." [s.n.], 2003. http://repositorio.unicamp.br/jspui/handle/REPOSIP/310934.

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Orientador: Carmen Silvia Bertuzzo<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-03T18:11:05Z (GMT). No. of bitstreams: 1 Pollice_ErikaLourenco_M.pdf: 5220972 bytes, checksum: 4c9ef357d894df5a392c096be985ba75 (MD5) Previous issue date: 2003<br>Resumo: A Síndrome de Down (SD) e a Síndrome de Turner (ST) são aberrações cromossômicas muito freqüentes. Há evidências de que mutações em enzimas ligadas ao metabolismo da homocisteína, levariam a aberrações cromossômicas, devido a fenômenos de hipometilação. Os pri

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Requeijo, Marcio José Rosa. ""Fenda facial diagnosticada no pré-natal: aspectos epidemiológicos, ultra-sonográficos e pós-natais"." Universidade de São Paulo, 2006. http://www.teses.usp.br/teses/disponiveis/5/5139/tde-24072006-154318/.

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Noventa e sete fetos portadores de fenda facial diagnosticados entre Maio de 1995 e Novembro de 2004 foram avaliados no setor de medicina fetal da Clínica Obstétrica do Hospital das clinicas da universidade de São Paulo.Houve excelente correlação entre o tipo de fenda facial diagnosticada pela ultra-sonografia no período gestacional e o tipo de fenda facial observado no pós-natal. A avaliação do palato foi o maior problema técnico para o diagnóstico da fenda facial. A idade gestacional no diagnóstico da fenda facial foi tardia. Fetos com fenda facial isolada apresentaram excelente prognóstico

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Sandberg, Therese, and Rebecka Fridén. "Utbyte av xylen till Tissue Clear som avparaffineringsmedel vid diagnostik av endometrioid carcinom med DNA-ploidi." Thesis, Hälsohögskolan, Jönköping University, HHJ, Avd. för naturvetenskap och biomedicin, 2020. http://urn.kb.se/resolve?urn=urn:nbn:se:hj:diva-48782.

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Flödescytometrisk analys av DNA-ploiditeten används vid diagnostisering av endometriecancer. DNA-ploidi reflekterar cellcykeln och avgör om tumörens cellpopulationen är diploid eller aneuploid, där aneuploiditet förknippas med sämre prognos. Vid analys av paraffininbäddat vävnadsmaterial används avparaffineringsmedlet xylen, vars toxiska egenskaper försämrar arbetsmiljön på laboratoriet. Den har en stark och obehaglig lukt som kan orsaka illamående och yrsel. Syftet med studien var att undersöka om xylen kan ersättas med xylensubstitutet Tissue Clear, ett isoparaffinskt kolväte som är mindre t

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Lima, Beatriz Brandão Vaz de. "Organização do fuso mitótico em células normais e tumorais: associação de drogas que atuam sobre os microtúbulos e a agressividade tumoral." Universidade de São Paulo, 2008. http://www.teses.usp.br/teses/disponiveis/42/42134/tde-17032009-160720/.

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Muitas evidências indicam que a tumorigênese em humanos é um processo com várias etapas. A progressão de um tumor em direção a malignidade ocorre de maneiras muito distintas entre os diferentes tipos de câncer. Entender os processos celulares que levam a tumorigênese é importante para se delinear tratamentos mais adequados contra os diversos tipos de câncer. Drogas antimitóticas (ou venenos de fuso) são utilizadas no tratamento de alguns cânceres, e entre eles está o câncer de mama. A ação dessas drogas reside sobre a mitose, e têm como alvo os fusos mitóticos, estruturas essenciais que dirige

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Sollelis, Lauriane. "Dynamique de la réplication de l’ADN et complexe pré-réplicatif chez Leishmania sp.. : apport du système CRISPR/Cas9." Thesis, Montpellier, 2016. http://www.theses.fr/2016MONTT062/document.

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Leishmania est un parasite eucaryote divergent responsable d’un large spectre de maladies à travers le monde. Ce parasite est caractérisé par une aneuploïdie mosaïque, constitutive, c’est-à-dire qu’au sein d’une population chaque cellule comporte une combinaison unique de mono-, di- et trisomies de chacun de ses 36 chromosomes. L’aneuploïdie mosaïque est générée et maintenue chez les générations suivantes grâce à un taux élevé de répartition asymétrique des chromosomes lors de la mitose, entrainant le gain ou la perte de chromosomes entiers. Ceci implique une régulation non-conventionnelle de

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Tang, Steven Siu Yan. "Aneuploidy and DNA fragmentation in morphologically abnormal sperm." Thesis, University of British Columbia, 2008. http://hdl.handle.net/2429/945.

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Introduction: Intracytoplasmic sperm injection (ICSI) has been a successful assisted reproductive technique for men with severe male-factor infertility. However, ICSI requires the subjective selection of normal looking sperm, which does not preclude the transmission of genetically abnormal sperm. Correlation between abnormal sperm morphology and chromosomal abnormalities has been suggested but not been conclusive and less is known about the connection between sperm morphology and DNA integrity. Sperm morphology will be evaluated on its ability to identify the level of chromosomal abnormalitie

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Jacob, Christine. "Analysis of murine aneuploidy at the blastocyst stage." Thesis, McGill University, 1990. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=60419.

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In humans, the overall birth frequency of trisomy 21 (Downs syndrome) is 1 per 700 livebirths. The incidence at conception is greater, but more than 80% will not reach term (Connor and Ferguson-Smith 1985). Presumably, numerous factors, genetic and environmental are influencing this process. Therefore, an analysis of the factors modulating the survival of murine aneuploid embryos has been initiated.<br>A maternal genetic control modulating the survival of murine trisomic embryos has been observed at day 15 of gestation (Vekemans and Trasler 1987; Epstein and Vekemans 1990). To determine whethe

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STEFANELLI, Angela. "Adenosine receptors in health and disease." Doctoral thesis, Università degli studi di Ferrara, 2014. http://hdl.handle.net/11392/2388942.

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Adenosine (Ado) is an endogenous nucleoside released from almost all cell types. It exerts neuroprotective and anti-inflammatory functions by acting through four receptor subtypes A1, A2A, A2B and A3 (ARs). These receptors differ in their affinity for Ado, in the type of G protein that they recruit and finally in the downstream signalling that are activated in target cells. The levels of Ado in the interstitial fluid are in the range of 20-200 nM, but many pathophysiological conditions such as asthma, neurodegenerative disorders, chronic inflammatory diseases and cancer are associated with cha

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Rodrigues, Andre Montezuma Sales. "Avaliação das instabilidades cromossômicas em displasias epiteliais e carcinomas de células escamosas orais." Universidade de Fortaleza, 2018. http://dspace.unifor.br/handle/tede/105560.

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Made available in DSpace on 2019-03-30T00:26:38Z (GMT). No. of bitstreams: 0 Previous issue date: 2018-04-13<br>Cancer, today, is one of the biggest public health problems in the world. Oral squamous cell carcinoma (OSCC) is the most common type of oral cancer, accounting for 90% of the cases, preceded by changes known as potentially malignant oral disorders (POMD). Several studies have sought to identify molecular markers capable of predicting the malignant transformation potential of POMDs, however, to date no markers have been reported that are capable of predicting the progression of nor

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Acácio, Gregório Lorenzo. "Translucencia nucal como marcador ultra-sonografico de cromossomopatia fetal." [s.n.], 1999. http://repositorio.unicamp.br/jspui/handle/REPOSIP/313171.

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Orientadores: Ricardo Barini, Walter Pinto Junior<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-07-26T07:41:38Z (GMT). No. of bitstreams: 1 Acacio_GregorioLorenzo_M.pdf: 1489107 bytes, checksum: 345194722ac066f8dbc3497b761d39ec (MD5) Previous issue date: 1999<br>Resumo: A literatura mostra uma associação entre diversos marcadores ultrasonográficos e riscos de cromossomopatias. Dentre os marcadores ultrasonográficos, a medida da translucência nucal tem sido apontada como um método de rastreamento de aneuploidia

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Prats, Rodríguez Pilar. "Cribado de aneuploidias de primer trimestre en las gestaciones gemelares." Doctoral thesis, Universitat de Barcelona, 2013. http://hdl.handle.net/10803/291436.

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Esta tesis está basada en dos artículos: Articulo 1: Early first-trimester free-β-hCG and PAPP-A serum distributions in monochorionic and dichorionic twins Objetivo: Examinar la distritución en primer trimestre de los marcadores bioquímicos de aneuploidias en gestaciones gemelares dependiendo de su corionicidad. Métodos: La free-β-human chorionic gonadotropin (hCG) en sangre materna y la pregnancy-associated plasma protein A (PAPP-A) fueron analizadas entre las semanas 8–13 + de gestación como parte del cribado rutinario del primestrimestre en conjunción con la translucencia nucal me

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Vasconcelos, Maria Beatriz Beça Gonçalves Porto e. "Análise cromossómica em doenças hematológicas : Significado das aneuploidias não clonais." Doctoral thesis, Universidade do Porto. Reitoria, 1992. http://hdl.handle.net/10216/10325.

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Vasconcelos, Maria Beatriz Beça Gonçalves Porto e. "Análise cromossómica em doenças hematológicas : Significado das aneuploidias não clonais." Tese, Universidade do Porto. Reitoria, 1992. http://hdl.handle.net/10216/10325.

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González, Rubio Christian. "Effects of aneuploidy on growth and cell cycle progression." Thesis, Massachusetts Institute of Technology, 2010. http://hdl.handle.net/1721.1/58291.

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Thesis (Ph. D.)--Massachusetts Institute of Technology, Dept. of Biology, 2010.<br>Cataloged from PDF version of thesis.<br>Includes bibliographical references.<br>In budding yeast, aneuploidy has a detrimental effect in cell growth and proliferation. The work presented here shows that most aneuploid yeast strains delay cell cycle entry by increasing the critical size for budding and by decreasing the rate of volume accumulation during the G 1 phase of the cell cycle. This increase in the critical size for budding is due to in a delay in CLN2 mRNA accumulation and can be suppressed by supplyin

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Ernst, Christina. "Transcriptional and developmental consequences of aneuploidy during male meiosis." Thesis, University of Cambridge, 2018. https://www.repository.cam.ac.uk/handle/1810/278212.

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Eukaryotes have developed stringent regulatory mechanisms that control cell division and ensure proper chromosome segregation. Maintaining genome integrity is especially important during meiosis, the specialised cell division programme in the germline that generates haploid gametes. As these cells transmit genetic information to the next generation, the consequences of meiotic errors are not restricted to an organismal level, but can directly impact the fitness of the offspring. Mammals display a high degree of sexual dimorphism in meiosis with regard to the stringency of regulatory mechanisms

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Ramdath, Ramona Sherry. "Aneuploidy: Using genetic instability to preserve a haploid genome?" University of Toledo Health Science Campus / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=mco1243954510.

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Ramdath, Ramona. "Aneuploidy : using genetic instability to preserve a haploid genome?" Connect to full text in OhioLINK ETD Center, 2009. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=mco1243954510.

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Dissertation (Ph.D.)--University of Toledo, 2009.<br>"In partial fulfillment of the requirements for the degree of Doctor of Philosophy in Biomedical Science." Title from title page of PDF document. Bibliography: p. 87-96.

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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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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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Hu, Dong Gui. "Development of a DNA microarray for detection of aneuploidy in single blastomeres /." Title page, table of contents and abstract only, 2004. http://web4.library.adelaide.edu.au/theses/09PH/09phh8741.pdf.

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Hall, Heather Elizabeth. "Understanding human aneuploidy : the origin of trisomy and effect of recombination and maternal age." Online access for everyone, 2007. http://www.dissertations.wsu.edu/Dissertations/Fall2007/H_Hall_081707.pdf.

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Christopoulou, Lina. "Effect of gene overexpression on human chromosome loss rates : development and application of a novel assay for testing individual genes." Thesis, University of Oxford, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.249593.

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Boquett, Juliano André. "Análise de polimorfismos da família p53 e sua via regulatória como fatores de risco para aneuploidia." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2013. http://hdl.handle.net/10183/72395.

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A aneuploidia é o distúrbio cromossômico mais comum em humanos e ocorre em pelo menos 5% de todas as gestações clinicamente reconhecidas. A trissomia é o tipo de aneuploidia mais frequente, sendo a trissomia do 21 a mais comum entre os nascidos vivos. A não-disjunção meiótica é a principal causa da trissomia livre do 21, sendo responsável por 95% dos indivíduos afetados. Apesar de poder ocorrer em qualquer um dos genitores, em 90% dos casos a não-disjunção meiótica é de origem materna. A idade materna é o único fator comprovadamente ligado à aneuploidia em humanos. Estudos recentes indicam que

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Hanks, Sandra. "Molecular, cellular and clinical characterisation of mosaic variegated aneuploidy syndrome." Thesis, Institute of Cancer Research (University Of London), 2011. http://publications.icr.ac.uk/10387/.

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Mosaic variegated aneuploidy (MVA) syndrome is an autosomal recessive disorder characterised by mosaic aneuploidies, a variety of phenotypic abnormalities and predisposition to cancer. This study aimed to identify the genetic defect underlying MVA and to characterise the associated cellular and clinical phenotypes. Following a candidate gene screening approach, I identified biallelic BUB1B mutations as a cause of MVA. BUB1B encodes BUBR1 which has multiple, crucial roles in the mitotic spindle checkpoint. I subsequently demonstrated that BUBR1 expression was reduced in BUB1B cases. Furthermore

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Chatzimeletiou, Katerina. "Chromosomal aneuploidy in the human pre- and post- implantation conceptus." Thesis, University of Leeds, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.396601.

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Dodgson, Stacie Elizabeth. "Global and chromosome-specific consequences of aneuploidy in Saccharomyces cerevisiae." Thesis, Massachusetts Institute of Technology, 2016. http://hdl.handle.net/1721.1/106730.

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Thesis: Ph. D., Massachusetts Institute of Technology, Department of Biology, 2016.<br>Cataloged from PDF version of thesis. "September 2016."<br>Includes bibliographical references.<br>Aneuploidy, an unbalanced karyotype in which one or more chromosomes are present in excess or reduced copy number, causes an array of known cellular phenotypes including proteotoxicity, genomic instability and slowed proliferation. Organisms with constitutional genomic imbalance are less fit than their euploid counterparts, and aneuploidy is the leading cause of spontaneous abortion in humans. Although much has

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Skylaki, Stavroula. "Distinct transcriptional signatures of aneuploidy in murine pluripotent cell populations." Thesis, University of Edinburgh, 2012. http://hdl.handle.net/1842/8729.

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Genomic integrity in mouse embryonic and induced pluripotent stem cells can be compromised by factors such as extended time in culture and cellular reprogramming. Surprising, only a few studies have thus far examined the accumulation of chromosomal imbalances in mouse pluripotent populations upon prolonged propagation in vitro. It is presumed that specific recurring genetic changes can confer selective growth advantage and resistance to apoptosis and/or differentiation to the affected cells, although the genes that drive these processes remain elusive. The presence of these changes in publishe

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Langen, Markus [Verfasser]. "Der Zusammenhang zwischen Aneuploidie und Alterung im Modellsystem Hefe / Markus Langen." Düsseldorf : Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2012. http://d-nb.info/1020273364/34.

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