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Dissertations / Theses on the topic 'Gene frequency'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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1

Wilson, Iain. "Factors influencing gene frequency distributions in Cepaea nemoralis." Thesis, University of Nottingham, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.335361.

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2

Dominguez-Bendala, Juan. "Manipulation of gene targeting frequency in mammalian cells." Thesis, University of Edinburgh, 2000. http://hdl.handle.net/1842/13678.

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With the development of nuclear transfer from somatic cells in several species, gene targeting can now be utilised for the design of more accurate animal models for human diseases and the generation of genetically modified livestock. However, its use is limited by the low frequency of homologous recombination in somatic cells. Future applications of gene targeting, such as the development of human gene therapies, will also require dramatic improvements in the efficiency of homologus recombination. The aim of this work has been devise strategies for the stimulation of gene targeting efficiency

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3

Xie, Yan. "STOCHASTIC DYNAMICS OF GENE TRANSCRIPTION." UKnowledge, 2011. http://uknowledge.uky.edu/statistics_etds/2.

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Gene transcription in individual living cells is inevitably a stochastic and dynamic process. Little is known about how cells and organisms learn to balance the fidelity of transcriptional control and the stochasticity of transcription dynamics. In an effort to elucidate the contribution of environmental signals to this intricate balance, a Three State Model was recently proposed, and the transcription system was assumed to transit among three different functional states randomly. In this work, we employ this model to demonstrate how the stochastic dynamics of gene transcription can be charact

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4

McArthur, James G. "Genetic elements which increase the frequency of gene amplification." Thesis, McGill University, 1989. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=74313.

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Members of the HSAG family of mammalian genomic elements were subcloned into the pSV2-DHFR expression vector and shown to encourage vector amplification in cis when transfected into a variety of cell lines. The interaction of multiple positive acting elements was required for this effect, with the native configuration of these elements in HSAG-1 producing the greatest effect. These positive acting elements; purine-pyrimidine tracts, Alu-like repetitive elements, stem-loop structures, and A+T rich sequences, have been previously associated with "hotspots" for recombination. Analysis of the stru

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5

Li, Juan. "Molecular characterization of chicken repetitive DNA sequences." Click to view the E-thesis via HKUTO, 2003. http://sunzi.lib.hku.hk/hkuto/record/B42577287.

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6

Li, Juan, and 李娟. "Molecular characterization of chicken repetitive DNA sequences." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2003. http://hub.hku.hk/bib/B42577287.

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7

Gradinger, Abigail. "Atypical methylmalonic aciduria : frequency of mutations in the methylmalonyl-CoA epimerase (MCEE) gene." Thesis, McGill University, 2007. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=101848.

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Methylmalonic aciduria results from defects in the enzyme methylmalonyl-CoA mutase and from defects in the synthesis of the enzyme's cofactor adenosylcobalamin. Two patients who excrete methylmalonic acid have been shown to have a homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE). To further understand the causes of methylmalonic acid excretion, the MCEE gene was sequenced in 229 patients who excreted methylmalonic acid for which no cause was known. Mutations were detected in five patients. Fusion of fibroblast lines from two patients with a homozygous nonsense mutati

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8

Trotter, Meridith V., and n/a. "Frequency-dependent selection and the maintenance of genetic variation." University of Otago. Department of Zoology, 2008. http://adt.otago.ac.nz./public/adt-NZDU20081114.120926.

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Frequency-dependent selection has long been a popular heuristic explanation for the maintenance of genetic diversity in natural populations. Indeed, a large body of theoretical and empirical work has already gone into elucidating the causes and consequences of frequency-dependent selection. Most theoretical work, to date, has focused either on the diallelic case, or dealt with only very specific forms of frequency-dependence. A general model of the maintenance of multiallelic genetic diversity has been lacking. Here we extend a flexible general model of frequency-dependent selection, the pairw

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9

Credidio, Laura 1976. "Polimorfismo C936T do gene VEGF no risco de adenocarcinoma colorretal esporádico e em seus aspectos clínicos e biológicos." [s.n.], 2012. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308755.

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Orientadores: Claudio Saddy Rodrigues Coy, Carmen Silvia Passos Lima<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-20T01:34:06Z (GMT). No. of bitstreams: 1 Credidio_Laura_M.pdf: 7330672 bytes, checksum: 03e0aafb86a0b4df9c88c89f064490e2 (MD5) Previous issue date: 2012<br>Resumo: O papel da angiogênese para o desenvolvimento do câncer colorretal (CCR) ainda não é totalmente conhecido. Uma das principais glicoproteínas responsáveis pela angiogênese é o fator de crescimento endotelial vascular (VEGF), acredita-

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10

Millar, Anna L. "Frequency estimation of endometrial cancer associated with microsatellite instability and mismatch repair gene defects." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape9/PQDD_0005/MQ46045.pdf.

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11

Reinhard, Carsten. "Crossover frequency mapping across disease resistance gene superclusters in Arabidopsis thaliana and in Triticum aestivum." Thesis, University of Cambridge, 2015. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.709029.

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12

Dafas, Panagiotis A. "Frequency rule mining for effective protein-protein interaction inference from gene expression and protein structures." Thesis, City University London, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.492255.

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The experimental measurement of gene expression levels has produced preliminary results on the regulation, pathways and networks of genes in cells. Furthermore, the number of available three-dimensional folded structures of proteins increases on a daily basis. The ultimate aim of both genomics and proteomics froni the perspective of bioinformatics, is to map out all the circuits of energy and information processing in life by terms of molecular interactions in a system~tic way with minimal human intervention. In this thesis we propose a new rule mining framework for ill silico inference of pro

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13

Borodenko, A. A., Ye I. Dubovyk, Вікторія Юріївна Гарбузова, et al. "The frequency of THR83Ala polymorphism of MGP gene Exon 4 in patients with atherothrombotic stroke." Thesis, Сумський державний університет, 2013. http://essuir.sumdu.edu.ua/handle/123456789/32195.

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Abnormal calcium salts depositing in the arterial vessels is considered to be a novel marker of atherosclerosis and related to cerebrovascular disease. Matrix gamma-carboxyglutamic acid protein (MGP) is one of the most potent inhibitors of ectopic mineralization, so it may be associated with calcification of atheromatous plaques, their instability and rupture, and thrombi formation. When you are citing the document, use the following link http://essuir.sumdu.edu.ua/handle/123456789/32195

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14

Aquino, Sibele Nascimento de 1984. "Avaliação de novos polimorfismos nos genes TGFB3, MSX1, MYH9 e JAG2 em pacientes com fissuras lábio-palatinas não-sindrômicas." [s.n.], 2011. http://repositorio.unicamp.br/jspui/handle/REPOSIP/289222.

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Orientador: Hercílio Martelli Júnior<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba<br>Made available in DSpace on 2018-08-18T03:14:48Z (GMT). No. of bitstreams: 1 Aquino_SibeleNascimentode_M.pdf: 1254396 bytes, checksum: 23d834d1395b6d0cfe104c6231785589 (MD5) Previous issue date: 2011<br>Resumo: Fissuras do lábio e/ou palato (FL/P) representam uma das anomalias congênitas mais comuns em humanos. A etiologia das FL/PNS é complexa e envolve a participação de inúmeros genes e fatores ambientais. Diversos estudos têm investigado genes relac

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15

Ferreira, Paulo Roberto Santos. "Freqüência das mutações Gln192Arg e Leu55Met no gene da paraoxonase 1 e das mutações Ser311Cis e A148G no gene da paraoxonase 2 em brasileiros de diferentes origens étnicas." Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/5/5146/tde-11122007-155509/.

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Paraoxonase (PON) é uma família multigene de enzimas, a qual inclui PON1, PON2 e PON3. Investigações há mais de duas décadas vêm permitindo um melhor conhecimento da função dos genes da paraoxonase, em especial da PON1, no metabolismo de inseticidas organofosforados, lípides oxidados e medicamentos. O principal local de síntese da PON1 é o fígado, e no soro encontra-se mais comumentente associada à HDL-C. Exibe dois principais polimorfismos, posição 55 (L/M) e 192 (Q/R) que estão relacionados ao nível sérico e atividade enzimática respectivamente. A freqüência dos alelos do gene PON1 apresenta

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16

Borge, Kaja Sverdrup, Malin Melin, Patricio Rivera, et al. "The ESR1 gene is associated with risk for canine mammary tumours." Uppsala universitet, Institutionen för medicinsk biokemi och mikrobiologi, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-200351.

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Background: The limited within-breed genetic heterogeneity and an enrichment of disease-predisposing alleles have made the dog a very suitable model for the identification of genes associated with risk for specific diseases. Canine mammary cancer is an example of such a disease. However, the underlying inherited risk factors for canine mammary tumours (CMTs) are still largely unknown. In this study, 52 single nucleotide polymorphisms (SNPs) in ten human cancer-associated genes were genotyped in two different datasets in order to identify genes/alleles associated with the development of CMTs. T

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17

Zhao, Jingmin. "Targetd Gene Knockout of the Outer Arm Dynein Heavy Chain Alpha Gene Causes Loss of Outer Arms and Decreased Beat Frequency in Tetrahymena Thermophila." Miami University / OhioLINK, 2007. http://rave.ohiolink.edu/etdc/view?acc_num=miami1174938168.

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18

Martinsohn, Jann Thorsten. "Molecular evolution of the mouse major histocompatibility complex the detection of low frequency gene conversion events /." [S.l. : s.n.], 2001. http://deposit.ddb.de/cgi-bin/dokserv?idn=963058975.

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19

Martinez, Maria. "Analyse genetique d'un trait pathologique a partir de familles selectionnees : consequences d'un ecart a certaines hypotheses du modele classique de recensement." Paris 7, 1988. http://www.theses.fr/1988PA077113.

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20

Garny, Seike. "Distribution, frequency and contribution to the expression of antibiotic resistance gene of an IS element in Acinetobacter baumannii." Master's thesis, University of Cape Town, 2006. http://hdl.handle.net/11427/2708.

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21

Yakova, D., M. Hristov, N. Stancheva, T. Rashev, and S. Tisheva. "Frequency of C > T polymorphism in fourth chromosome and levels of crp in patients with atrial." Thesis, Sumy State University, 2016. http://essuir.sumdu.edu.ua/handle/123456789/45055.

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Introduction. Atrial fibrillation is a heart rhythm disorder, characterized by rapid and uncoordinated atrial activation which is the most common arrhythmia in clinical practice. Atrial fibrillation is observed in 1.5 - 2% of the general population and its incidence increases with age reaching more than 8-15% by 80 years of age. Atrial fibrillation is traditionally considered as a non genetic disorder. The cause of atrial fibrillation in 10-20% of cases is unknown and it is diagnosed as idiopathic.

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22

Makowski, Mateusz. "High-Throughput Data Analysis: Application to Micronuclei Frequency and T-cell Receptor Sequencing." VCU Scholars Compass, 2015. http://scholarscompass.vcu.edu/etd/3923.

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The advent of high-throughput sequencing has brought about the creation of an unprecedented amount of research data. Analytical methodology has not been able to keep pace with the plethora of data being produced. Two assays, ImmunoSEQ and the cytokinesisblock micronucleus (CBMN), that both produce count data and have few methods available to analyze them are considered. ImmunoSEQ is a sequencing assay that measures the beta T-cell receptor (TCR) repertoire. The ImmunoSEQ assay was used to describe the TCR repertoires of patients that have undergone hematopoietic stem cell transplantation (HSCT

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23

Mumy, Karen Lynn. "Determination of degradative gene frequencies applications in polycyclic aromatic hydrocarbon contaminated sediments /." Oxford, Ohio : Miami University, 2004. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=miami1077729030.

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24

Odeh, Mona. "Establishment of Recombinant Adeno-Associated Virus Vector Integration Frequency In Vitro and In Vivo." The Ohio State University, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=osu1338435720.

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25

Anson, Simon Richard. "An investigation into the molecular role of qrf, a natural antisense transcript of the Neurospora crassa circadian clock gene frequency." Thesis, University of Manchester, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.702310.

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26

Maselli, Luciana Morganti Ferreira. "Estudo dos polimorfismos das paraoxonases 1 e 2 em pacientes portadores do vírus da imunodeficiência humana e avaliação do potencial de peroxidação lipídica." Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/5/5146/tde-24032009-162834/.

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A paraoxonase sérica humana (PON) vem sendo amplamente estudada. Além da capacidade de PON1 em hidrolisar compostos organofosfatados, sabe-se, atualmente, que toda a família PON (composta por PON1, PON2 e PON3) promove a proteção de lípides, incluindo-se a lipoproteína de baixa densidade (LDL) contra a oxidação. O gene da PON1 sérica apresenta dois sítios polimórficos bem determinados: a troca Gln192Arg (Q/R) e Met55Leu, os quais estão associados com diferenças na atividade e concentrações séricas da enzima, respectivamente. Também o polimorfismo Cys311Ser parece contribuir sinergisticamente c

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27

Scholz, Dietmar. "Analyse der Surfaktantprotein-A-Gene bei Patienten mit Verdacht auf einen Surfaktantproteindefekt." Doctoral thesis, [S.l.] : [s.n.], 2001. http://deposit.ddb.de/cgi-bin/dokserv?idn=962717843.

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28

Dillahunt, Kyle D. "Frequency of PTEN Gene Mutations in Children with Autism Spectrum Disorder, Intellectual Disabilities, and Global Developmental Delays in the Presence of Macrocephaly." The Ohio State University, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=osu1491991439195058.

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29

Moore, Jean-Sébastien. "The evolutionary and demographic consequences of gene flow in a threespine stickleback population /." Thesis, McGill University, 2007. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=101870.

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I here explore the dual roles of gene flow in determining evolutionary and demographic processes in the Misty Lake threespine stickleback (Gasterosteus aculeatus L.). In the Misty watershed, the lake fish have streamlined bodies and numerous gill rakers whereas the inlet stream fish have deeper bodies and reduced number of gill rakers, differences that are adaptive for lake and stream environments respectively. The outlet stream population, however, is morphologically intermediate between the lake and inlet populations as a result of high gene flow from the lake preventing adaptation to the st

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30

Soko, White. "Frequency of CCR2V64I and CCR5Δ32 host genes and their association with HIV infection among pregnant women from Harare, Zimbabwe". Thesis, University of the Western Cape, 2010. http://hdl.handle.net/11394/1790.

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Magister Public Health - MPH<br>Aim: To determine and compare the prevalence of CCR5-Δ32 and CCRV64I genes in HIV positive and HIV negative population of pregnant women from Harare, in Zimbabwe. Results: The proportion of pregnant women with the homozygous CCR2V64I gene was 24.38% and this gene was two times more associated with HIV infection than in those without it ( RR= 2.32, 95% CI-1.38-3.92). No CCR5-Δ32 deletion was detected in the studied population. Conclusion: The homozygous CCR2V64I gene and STIs were more prevalent in HIV infected pregnant women than in uninfected pregnant women a

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31

Silva, Fábio França. "ESTUDO DA ASSOCIAÇÃO DOS GENES HLA-A*, -B* E -DRB1* EM MULHERES COM ABORTAMENTO ESPONTÂNEO RECORRENTE (AER)." Universidade Federal do Maranhão, 2009. http://tedebc.ufma.br:8080/jspui/handle/tede/1138.

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Made available in DSpace on 2016-08-19T18:16:00Z (GMT). No. of bitstreams: 1 FABIO FRANCA SILVA.pdf: 387985 bytes, checksum: b614ae131f06a658fbdac4196b4d623c (MD5) Previous issue date: 2009-04-06<br>FUNDAÇÃO DE AMPARO À PESQUISA E AO DESENVOLVIMENTO CIENTIFICO E TECNOLÓGICO DO MARANHÃO<br>Recurrent spontaneous abortion (RSA) is defined as two or more consecutive spontaneous pregnancy losses before the 20th week of gestation, a situation that occurs in 1 to 2% of women in reproductive age. Genetic, anatomical, endocrine, infectious and immunologic factors through mechanisms that relate to the

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32

Vieira, Fatima Mendonça Jorge. "Porfiria cutânea tardia com mutações do gene da hemocromatose C282Y e H63D e análise retrospectiva do perfil de ferro em relação ao tratamento: estudo de 60 casos." Universidade de São Paulo, 2012. http://www.teses.usp.br/teses/disponiveis/5/5133/tde-24012013-170707/.

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Fundamentos: A porfiria cutânea tardia é a forma mais comum das porfirias e caracteriza-se pela diminuição da atividade da enzima uroporfirinogênio descarboxilase. Há vários relatos da associação das mutações do gene HFE da hemocromatose hereditária com porfiria cutânea tardia no mundo, mas até hoje apenas um estudo foi realizado no Brasil. Objetivo: Estudar a associação da porfiria cutânea tardia com as mutações C282Y e H63D do gene HFE da hemocromatose hereditária. Identificar a associação com etilismo, hepatite C, hepatite B e infecção pelo HIV e relacioná-los com a presença ou não das muta

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33

Mattila, T. (Tiina). "Post-glacial colonization, demographic history, and selection in Arabidopsis lyrata:genome-wide and candidate gene based approach." Doctoral thesis, Oulun yliopisto, 2017. http://urn.fi/urn:isbn:9789526217093.

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Abstract Demographic history and natural selection are central forces shaping the genetic diversity of populations. Knowledge on these forces increases understanding of processes shaping genetic variability of populations. In this PhD thesis I investigated demographic history and selection in multiple populations of Arabidopsis lyrata, an outcrossing herbaceous plant species of the Brassicaceae family. Due to its wide distribution in the temperate and boreal regions, A. lyrata serves as a good model system to study population genetic consequences of colonization of northern latitudes. The firs

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34

Berger, Karina. ""Hipogonadismo hipogonadotrófico: diagnóstico pré-puberal e papel das isoformas e variantes gênicas do hormônio luteinizante no fenótipo da doença"." Universidade de São Paulo, 2006. http://www.teses.usp.br/teses/disponiveis/5/5135/tde-07082006-134343/.

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A resposta do LH e do FSH ao estímulo com GnRH, realizado em estádio pré-puberal em pacientes com hipopituitarismo acompanhados até a idade puberal, são úteis para predizer o diagnóstico da deficiência de gonadotrofinas, principalmente nas meninas. O estudo da região codificadora do gene LH em pacientes com hipogonadismo hipogonadotrófico e concentrações normais de LH revelou 5 variantes alélicas. A freqüência das variantes alélicas Arg8 e Thr15 foi similar entre hipogonádicos e adultos normais e a sua presença não interferiu nas concentrações séricas do LH. O estudo das isoformas do LH mostro

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35

Nilsson, Ardnor Sofie. "Genetic studies of stroke in Northern Sweden." Doctoral thesis, Umeå : Umeå University, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-887.

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Buck, Paula de Cássia. "Correlação entre polimorfismo e atividade da enzima conversora da angiotensina com o grau de hipertrofia miocárdica nas formas familiar e não familiar em pacientes com cardiomiopatia hipertrófica." Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/5/5131/tde-19042007-085800/.

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FUNDAMENTOS: O polimorfismo e a atividade da enzima conversora da angiotensina (ECA) contribuem, de forma significante, na expressão fenotípica e no prognóstico de pacientes com cardiomiopatia. OBJETIVOS: Determinar o polimorfismo da ECA, realizar a sua dosagem sérica e correlacioná-los com o grau de hipertrofia miocárdica e o índice de massa do ventrículo esquerdo em pacientes com cardiomiopatia hipertrófica (CMH) nas formas familiar e não familiar. CASUÍSTICA E MÉTODO: Foram estudados 136 pacientes consecutivos com CMH (69 da forma familiar e 67 da forma não familiar) com média de idade de 4

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Cui, DongBo. "Muscarinic Cholinergic Modulation of Neuronal Excitability and Dynamics via Ether-a-go-go-Related Gene Potassium Channel in Rodent Neocortical Pyramidal Cells." Case Western Reserve University School of Graduate Studies / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=case1559904265174505.

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Questiau, Sophie. "Evolution intraspécifique et système de reproduction de la gorge bleue à miroir (Luscinia svecica)." Université Joseph Fourier (Grenoble ; 1971-2015), 1998. http://www.theses.fr/1998GRE10102.

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Nous avons etudie l'evolution intraspecifique de la gorgebleue a miroir luscinia svecica. Nous avons teste, en premier lieu, si les sous-especes decrites correspondaient a des entites genetiques claires. En sequencant une partie de la region de controle et du gene du cytochrome b situes sur l'adn mitochondrial, nous avons revele que les sous-especes sont en fait tres proches genetiquement (region de controle: 0,00168 0,00001 (divergence moyenne es), cyt. B : 0,00344 0,00017, pour les deux sous-especes les plus differentes morphologiquement). Les sous-especes ont donc diverge rapidement apres u

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39

Viho, Agbélénko Goudjo. "Étude de modèles markoviens en génétique et calculs des temps d'absorption." Grenoble 1, 1996. http://www.theses.fr/1996GRE10121.

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Cette thèse porte sur l'étude de la modélisation de l'évolution, par des processus markoviens, de l'effectif d'un gène donné au cours des générations dans une population à taille limitée. Dans une première partie, nous faisons un recensement des différents types de chaînes de Markov homogènes utilisées dans la littérature pour une telle modélisation. Quand la taille de la population est grande, il est possible d'obtenir la convergence de ces chaînes de Markov vers des processus de diffusion homogènes grâce aux théorèmes de convergence qui font l'objet de la deuxième partie. La troisième partie

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40

Zhang, Yan. "Frequent RASSF1A gene promoter hypermethylation in breast cancer." [S.l. : s.n.], 2008. http://nbn-resolving.de/urn:nbn:de:bsz:289-vts-63611.

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41

Kassem, Issam. "La variation geographique des polymorphismes phenotypiques et enzymatiques dans les populations de cepaea nemoralis des pyrenees francaises." Paris 6, 1987. http://www.theses.fr/1987PA066176.

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42

Léveillard, Thierry. "Le polymorphisme des gènes de l'inter-alpha-trypsine inhibiteur : recherche d'association génétique avec l'emphysème pulmonaire." Rouen, 1989. http://www.theses.fr/1989ROUES015.

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RFLP des gènes de l'inhibiteur de la trypsine inter alpha chez l'homme, déterminisme génétique et fréquence allélique de ces marqueurs dans une population de référence et dans une population constituée d'individus non déficitaires en alpha-1-antitrypsine souffrant d'emphysème pulmonaire

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43

Tavares, Marcos Soares. "Estudo caso-controle da região HLA de pacientes com Granulomatose com poliangeíte." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/5/5150/tde-01032017-134802/.

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Os alelos HLA-DPB1*04 e HLA-DRB1*15 estão fortemente associados à Granulomatose com poliangeíte (GPA). Neste estudo, analisamos se os pacientes brasileiros com diagnóstico de GPA apresentam uma base genética na região HLA. Conduzimos um estudo caso-controle, em que analisamos os alelos da região HLA classe I e II em 55 pacientes com diagnóstico de GPA, atendidos no ambulatório de Vasculites Pulmonares do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, e comparamos com os resultados de 110 controles saudáveis. Comparamos também quatro diferentes apresentações clínic

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Kibler, Tracey Deborah. "A computational characterisation of the relationship between genome structure and disease genes." Thesis, University of the Western Cape, 2012. http://hdl.handle.net/11394/4509.

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>Magister Scientiae - MSc<br>This is a pilot study to investigate the relationship between disease gene status and the structure of the human genome with specific reference to regions of recombination. It compares certain characteristics of a control set of genes, with no reported association or function in any known disease, with a second set of well-curated genes with a known association to a disease. One of the benefits of recombination is the introduction of new combinations of genetic variation in the genome. Recombination hotspots are regions on the chromosome where higher than normal fr

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Blom, Peter. "Magneto-sensitive rubber in the audible frequency range." Doctoral thesis, Stockholm : Royal Institute of Technology, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-4024.

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Mendes, Christiane Patricia de Oliveira. "Determinação da frequencia alelica de tres polimorfismos da região promotora do gene da proteina C." [s.n.], 1997. http://repositorio.unicamp.br/jspui/handle/REPOSIP/310148.

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Orientadores: Joyce M. Annichino-Bizzacchi, Christine Hackel<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-07-23T08:15:34Z (GMT). No. of bitstreams: 1 Mendes_ChristianePatriciadeOliveira_M.pdf: 3747507 bytes, checksum: 314473a43a2b60b23c30e4583bb31f97 (MD5) Previous issue date: 1997<br>Resumo: A cascata da coagulação sanguínea humana, em condições normais, é regulada por vários mecanismos naturais de anticoagulação. Entre esses mecanismos está a chamada Via da Proteína c (PC) Anticoagulante. A PC é uma proteín

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Galiotto, Dianne. "Frequencia de mutacoes no gene TP53 em tumores de mama em pacientes de Santa Catarina." Florianópolis, SC, 2011. http://repositorio.ufsc.br/xmlui/handle/123456789/95424.

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Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências Biológicas, Programa de Pós-Graduação em Biotecnologia e Biociências, Florianópolis, 2011<br>Made available in DSpace on 2012-10-26T01:26:49Z (GMT). No. of bitstreams: 1 295025.pdf: 2894933 bytes, checksum: 67593ffc68e4727beec377fc206b3a35 (MD5)

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Lupindo, Bukiwe. "Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes." Master's thesis, University of Cape Town, 2008. http://hdl.handle.net/11427/4289.

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Includes bibliographical references (leaves 92-112).<br>In humans and other higher eukaryotes the observation of multiple splice isoforms for a given gene is common. However it is not clear whether all of these alternatively spliced isoforms are a product of true alternative splicing or some are due to DNA sequence variations in human populations. Genetic variations that affect splicing have been shown to cause variation in splicing patterns and potentially are an important source of phenotypic variability among humans. Furthermore, variation in disease susceptibility and manifestation between

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Wada, Manabu. "Frequent Loss of RUNX3 Gene Expression in Huuman Bile Duct and Pancreatic Cancer Cell Line." Kyoto University, 2004. http://hdl.handle.net/2433/147482.

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Santos, Kelly. "Frequencia das mutações C677T e A1298C no gene da MTHFR em portadoras de sindrome de Turner." [s.n.], 2002. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308590.

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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 2018-08-02T04:23:22Z (GMT). No. of bitstreams: 1 Santos_Kelly_M.pdf: 15332993 bytes, checksum: 39bff3e0afd6a69cc924f944b9927971 (MD5) Previous issue date: 2002<br>Resumo: A Síndrome de Turner (ST), descrita por Henry Turner em 1938, caracteriza-se classicamente por um fenótipo feminino associado à baixa estatura, infantilismo sexual, esterilidade, além de diversas malfonnações. Há evidências de que mutações na enzima metilenotetrahidr

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