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Dissertations / Theses on the topic 'Gens candidats'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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1

Bustamante, Pineda Mariona. "Estudis d'associació i funcionals en gens candidats per a l'osteoporosi." Doctoral thesis, Universitat de Barcelona, 2007. http://hdl.handle.net/10803/1887.

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L'osteoporosi, una malaltia complexa determinada tant per factors genètics com ambientals, està caracteritzada per una reduïda densitat mineral òssia (DMO), un deteriorament de la microarquitectura òssia i un augment del risc de patir fractures osteoporòtiques. En el present treball ens vam plantejar estudiar les causes genètiques que determinen l'aparició de l'osteoporosi mitjançant la realització d'estudis d'associació i estudis funcionals. <br/>Els gens candidats clàssics per a l'osteoporosi que hem analitzat han estat el gen <i>COL1A1</i>, el gen <i>ESR1</i>, el gen <i>VDR</i> i el gen <i>

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2

Zhang, Yu. "Identification and characterization of candidate genes for peach fruit shape." Doctoral thesis, Universitat Autònoma de Barcelona, 2018. http://hdl.handle.net/10803/666885.

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El fruit del préssec deriva de l'ovari madur, que es converteix en drupa. La seva forma pot variar entre rodona i plana, adquirint algunes formes intermèdies com la forma aplanada. En el préssec, el fruit pla (anomenat paraguaià) és causat per un al·lel parcialment dominant que ha d'estar en heterocigosis (Ss), mentre que els fruits d'arbres homozigots (SS) avorten poques setmanes després del quallat del fruit. Investigacions anteriors han identificat un marcador SSR (UDP98-412) altament associat al caràcter i que és adequat per a la seva utilització en selecció assistida per marcadors (SAM).

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3

Illa, Berenguer Eudald. "Mapatge de gens candidats implicats en la qualitat del fruit al presseguer." Doctoral thesis, Universitat de Barcelona, 2010. http://hdl.handle.net/10803/966.

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En els darrers anys, la important reconversió varietal ha permès una millor qualitat, més adaptada tan a les exigències de la producció com de la distribució i del consumidor. La primera generació de milloradors van posar tot el seu èmfasi en millorar les característiques comercials de la fruita com el color, la fermesa i el sabor. Tanmateix el mercat actual exigeix altres atributs de tipus organolèptic i nutricional, addicionals als anteriors. Entendre la base genètica que controla cadascun dels caràcters determinarà la nostra capacitat per obtenir uns fruits més atractius i sans per al consu

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4

Jodar, Bifet Meritxell. "Anàlisi del contingut de RNA i estudi mutacional de gens candidats en iinfertilitat masculina." Doctoral thesis, Universitat de Barcelona, 2012. http://hdl.handle.net/10803/119732.

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La infertilitat és un problema que cada cop és més comú en la població actual. S’ha definit que la meitat dels casos de la infertilitat es deu a un factor masculí, no obstant, la gran majoria segueix sent d’etiologia desconeguda. Els grans objectius d’aquesta tesi es poden dividir en dos camps: (i) la cerca de factors genètics que puguin ser causa de la infertilitat masculina i (ii) la cerca de nous factors, com els RNAs i miRNAs, que puguin aclarir la patogenicitat de tipus determinats de infertilitat i el seu futur ús com a biomarcadors de la fertilitat. Vam utilitzar tres estratègies per

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5

López, Girona Elena. "Genetic architecture of agronomic traits in peach [Prunus persica (L.) Batsch]: subacid, flat shape and nectarine." Doctoral thesis, Universitat Autònoma de Barcelona, 2014. http://hdl.handle.net/10803/285555.

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L'objectiu dels programes de millora genètica del préssec és generar varietats adaptats a les condicions agronòmiques locals i satisfer els requeriments del consumidor. Això últim implica millorar la qualitat del fruit. L'estratègia seguida per molts milloradors es basa en la selección de descendents de creuaments on s’espera segregació per a caràcters fenotípics. Es tracta d’un mètode costós tant en temps com en diners a causa del período de juvenilitad del presseguer (2-3 anys) i també als recursos que suposa el mantener les plàntules en el camp durant el procés d’avaluació i selecció. L'obj

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6

Castro, i. Català Marta de. "Candidate genes for psychosis and their interaction with environmental factors: impact on psychosis-proneness = Gens candidats per psicosi i la seva interacció amb factors ambientals: impacte sobre la vulnerabilitat per a psicosi." Doctoral thesis, Universitat de Barcelona, 2017. http://hdl.handle.net/10803/456371.

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Schizophrenia is a severe and complex mental disorder that results in an inability to cope with life’s ordinary demands and routines. Normally, it appears in late adolescence, more frequently and developing earlier in males. It seems that disruption of the factors and pathways involved in brain development may cause modifications in neural structure, function or connectivity, leading to a final brain more susceptible to develop psychotic symptoms. The high diversity of symptoms intra- and inter-patient, makes the exploration of the aetiology and biological pathways underlying this illness, as

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7

Castro, Miró Marta de. "Metodologies d'alt rendiment per a la identificació de noves mutacions i gens causants de distròfies de retina: estudi funcional de nous candidats." Doctoral thesis, Universitat de Barcelona, 2017. http://hdl.handle.net/10803/456372.

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Les distròfies de retina (DR) formen un ampli grup dins les patologies hereditàries de la visió que es caracteritza perquè cursen amb afectació retinal i per la seva elevada heterogeneïtat clínica i genètica. A nivell clínic les DR es classifiquen entre formes estacionàries o progressives i formes maculars o generalitzades i, en general, són difícils de diagnosticar. A nivell genètic s’han identificat més de 260 gens causals, associats a formes sindròmiques i no sindròmiques, que s’hereten seguint els patrons coneguts d’herència mendeliana. A més, algunes DR, particularment les que afecten el

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8

Vidal, i. Fàbrega Oriol. "Anàlisi de quantitative trait loci i de gens candidats relacionats amb la qualitat de la carn i de la canal en una població Landrace." Doctoral thesis, Universitat Autònoma de Barcelona, 2004. http://hdl.handle.net/10803/5654.

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Els treballs que inclou aquest compendi s'han desenvolupat dins del projecte FEDER 2FD97-0916-C02-02, que té com a objectiu principal confirmar l'existència, en una població comercial Landrace altament seleccionada, de quantitative trait loci (QTL) prèviament descrits en encreuaments de races divergents. Els caràcters analitzats en aquest projecte inclouen tant mesures de la qualitat de la carn com de conformació i de qualitat de la canal.<br/>Mitjançant la segregació de marcadors moleculars tipus microsatèl·lits en un pedigrí de dues generacions d'una població Landrace es van analitzar 10 re

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9

Saus, Martínez Ester. "Study of genomic variability in the genetic susceptibility to psychiatric disorders: SNPs, CNVs and miRNAs." Doctoral thesis, Universitat Pompeu Fabra, 2010. http://hdl.handle.net/10803/7221.

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In this thesis we have studied genetic elements potentially contributing to the pathophysiology of psychiatric disorders, focusing on different sources of human genome variability, including SNPs and CNVs, which can affect not only coding genes but also RNA regulatory elements, such as miRNAs. First, we have interrogated different candidate genes for psychiatric disorders overlapping with known CNVs, finding 14 different genes variable in copy number in psychiatric disorders but not in control individuals. Then, narrowing the analysis on mood disorders, we explored GSK3β gene considering

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10

Jacq, Laurent. "Recherche de gènes de susceptibilité à la polyarthrite rhumatoïde et aux syndromes coronaires aigus." Thesis, Evry-Val d'Essonne, 2010. http://www.theses.fr/2010EVRY0014.

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La polyarthrite rhumatoïde (PR) et la maladie coronaire (MC) sont deux maladies touchant l'adulte comportant une susceptibilité génétique et partageant plusieurs chapitres physiopathologiques. Nous avons recherché des gènes de susceptibilité à la PR en employant une approche gène-candidat dans des loci suggerés par les données d'études de criblage du genome. Nous avons mis au point une étude originale (Genescaf) d'approche des gènes impliqués dans la MC<br>Rhumatoid arthritis (RA) and coronary artery disease (CAD) are two adult diseases involving some genetic susceptibility genes and sharing m

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11

Svidnicki, Maria Carolina Costa Melo 1986. "Estudo de genes candidatos em indivíduos brasileiros com dislexia." [s.n.], 2011. http://repositorio.unicamp.br/jspui/handle/REPOSIP/316702.

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Orientador: Edi Lúcia Sartorato<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Instituto de Biologia<br>Made available in DSpace on 2018-08-18T01:19:09Z (GMT). No. of bitstreams: 1 Svidnicki_MariaCarolinaCostaMelo_M.pdf: 1911302 bytes, checksum: d9763aa0db5e4721a58e8e1f714fd1d0 (MD5) Previous issue date: 2011<br>Resumo: A dislexia é definida como um distúrbio, ou transtorno de aprendizagem na área da leitura, escrita e soletração, que ocorre apesar de uma adequada inteligência e oportunidade sociocultural. A etiologia desse distúrbio se deve, em parte, a um importante compone

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12

Gibbons, Vaneesha Stewart. "Phenotypic switching in Candida albicans : a candidate gene approach." Thesis, University of Aberdeen, 1999. http://digitool.abdn.ac.uk/R?func=search-advanced-go&find_code1=WSN&request1=AAIU123578.

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This thesis describes the cloning and characterisation of two <I>Candida albicans</I> genes which were candidates for having a role in the phenotypic switching phenomenon of <I>C. albicans</I>. Phenotypic switching in <I>C. albicans</I> is a spontaneously occurring event whereby the surface morphology and several physiological processes of the <I>C. albicans</I> colony can change. These spontaneous switching events occur at high frequency and there are a range of up to fifteen different morphological forms that have been described. Switching is reversible and interconvertible (between the diff

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13

Alves, Fernanda Aparecida Vargas de Brito e. "ANÁLISE DO POLIMORFISMO T102C DO RECEPTOR DE SEROTONINA (HTR2A) EM PACIENTES COM FIBROMIALGIA E CONTROLES." Pontifícia Universidade Católica de Goiás, 2012. http://localhost:8080/tede/handle/tede/2360.

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Made available in DSpace on 2016-08-10T10:38:40Z (GMT). No. of bitstreams: 1 FERNANDA APARECIDA VARGAS DE BRITO E ALVES.pdf: 1009586 bytes, checksum: 8dc12edf912fed637ebefe39ffdd52d4 (MD5) Previous issue date: 2012-06-30<br>Introduction: Fibromyalgia is a syndrome characterized by widespread chronic pain. The syndrome is chronic with dubious possibility of healing. The prevalence in the world population varies from 0,66 to 4,4 %. It is believed that fibromyalgia is the result of abnormal changes in sensory processing of pain. In this context, are inserted gene polymorphisms T102C gene HTR2A

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14

Tell, Désirée von. "Welander distal myopathy : gene mapping and analysis of candidate genes /." Stockholm, 2004. http://diss.kib.ki.se/2003/91-7349-764-9.

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15

Arneiro, Lidia Carolina Meira [UNESP]. "Caracterização da variabilidade de genes relacionados ao desenvolvimento muscular, fertilidade e temperamento em equinos da raça mangalarga." Universidade Estadual Paulista (UNESP), 2011. http://hdl.handle.net/11449/92591.

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Made available in DSpace on 2014-06-11T19:26:07Z (GMT). No. of bitstreams: 0 Previous issue date: 2011-02-18Bitstream added on 2014-06-13T18:54:03Z : No. of bitstreams: 1 arneiro_lcm_me_jabo.pdf: 935977 bytes, checksum: a8cbfbbed53f54f73a608f20e432bfe4 (MD5)<br>Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)<br>Em mamíferos, incluindo os eqüinos (Equus caballus), o gene protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3) encontra-se relacionado ao desempenho muscular, os genes cysteine-rich secretory protein 1 (CRISP1) e spermatogenesis associated 1 (SP

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16

Wang, Min. "Fine mapping and candidate gene analysis of murine lung tumor susceptibility genes." Connect to this title online, 2003. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1054682174.

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Thesis (Ph. D.)--Ohio State University, 2003.<br>Title from first page of PDF file. Document formatted into pages; contains xvi, 150 p.; also includes graphics (some col.) Includes bibliographical references (p. 129-150). Available online via OhioLINK's ETD Center

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17

Gaitonde, Emma Jane Louise. "Candidate genes in schizophrenia." Thesis, University of Cambridge, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.620185.

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18

Lee, Grace. "Schizophrenia Candidate Genes Study." VCU Scholars Compass, 2009. http://scholarscompass.vcu.edu/etd/1879.

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Schizophrenia is a debilitating disorder caused by the interaction of genetic and environmental factors. In this study, we identified candidate genes and single nucleotide polymorphisms from two genome-wide association studies, GAIN and CATIE. Nine SNPs representing four candidate genes were selected for replication studies with our Irish samples: Irish Case-Control Study of Schizophrenia (ICCSS), the Irish Study of High-Density Schizophrenia Families (ISHDSF), and the Irish Trio Study of Schizophrenia (ITRIO). In the ITRIO sample, rs4704591 (CMYA5 gene) showed nominal significance (p = 0.0447

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19

Santos, Renato Oliveira dos. "Investigando o papel de genes candidatos na epilepsia do lobo temporal mesi = genes PTPRM e IL1B = Investigating candidates genes in mesial temporal lobe epilepsy : PTPRM and IL1B genes." [s.n.], 2015. http://repositorio.unicamp.br/jspui/handle/REPOSIP/312709.

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Orientadores: IÍscia Teresinha Lopes Cendes, Cláudia Vianna Maurer-Morelli<br>Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-27T14:57:39Z (GMT). No. of bitstreams: 1 Santos_RenatoOliveirados_D.pdf: 1790615 bytes, checksum: 5e996ae5810a67103c553e7bdc08ecc8 (MD5) Previous issue date: 2015<br>Resumo: As epilepsias formam um grupo de doenças neurológicas crônicas caracterizadas por crises epilépticas, as quais podem ser definidas como um distúrbio intermitente do sistema nervoso causado por descarga elétrica anormal, súb

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Dash, D. P. "Mapping of a gene causing cataract and keratoconus and analysis of candidate genes." Thesis, Queen's University Belfast, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.419498.

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21

Tsai, Chen Hsuan Sherry. "The study of candidate sialometabolism genes and sialometabolism gene regulation in Haemophilus influenzae." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:656c6197-b37e-4fba-8544-fbcdd74b549d.

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Sialic acid (SA) is a known major virulence factor of Haemophilus influenza (Hi). This study aims to analyse the functions of some candidate sialometabolism genes, and to further our current understanding on the Hi sialometabolism gene regulation. Two candidate sialometabolism genes (HI0227 and HI0148) and their adjacent ORFs (HI0228, HI0148.1 and HI0149) were studied. HI0148.1 and HI0149 are transcribed as a single gene in screened NTHi strains, and we refer to the combined ORF as NTHI0236 (the designation in strain 86-028NP). Across Hi strains screened, the sequences of HI0227, HI0148 and NT

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Costa, ?rica Cristina Xisto da. "Polimorfismo do gene MSTN e do SNP BIEC2-808543 e sua rela??o com crescimento de potros da ra?a brasileiro de hipismo." Universidade Federal Rural do Rio de Janeiro, 2015. https://tede.ufrrj.br/jspui/handle/jspui/1392.

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Submitted by Sandra Pereira (srpereira@ufrrj.br) on 2017-01-25T15:40:39Z No. of bitstreams: 1 2015 - ?rica Cristina Xisto da Costa.pdf: 2608729 bytes, checksum: a906abcd8f725dc6509fedcf8de9e08c (MD5)<br>Made available in DSpace on 2017-01-25T15:40:39Z (GMT). No. of bitstreams: 1 2015 - ?rica Cristina Xisto da Costa.pdf: 2608729 bytes, checksum: a906abcd8f725dc6509fedcf8de9e08c (MD5) Previous issue date: 2015-07-31<br>Coordena??o de Aperfei?oamento de Pessoal de N?vel Superior - CAPES<br>The gene encoding myostatin (MSTN), located on chromosome 18 (ECA 18) and the SNP BIEC2-808543 located in

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23

Sundholm, James, and n/a. "Analysis of Specific Migraine Candidate Genes Mapping to Human Chromosome 1." Griffith University. School of Health Science, 2003. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20030829.153348.

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Migraine, comprised of migraine with aura (MA) and migraine without aura (MO), is a painful neurovascular disease, affecting approximately 16% of the general population. It is characterised by a wide variety of symptoms including headache, nausea and vomiting, and photo- and phonophobia. The disorder is complex involving not only multiple genes, but also specific environmental factors, which can induce attacks in genetically predisposed individuals. Hyperhomocysteinaemia is a known risk factor for cerebrovascular, peripheral vascular and coronary heart disease. The Methylenetetrahydrofolate Re

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Fan, Li. "Map based candidate gene cloning and functional analysis of genes involved in VLCFAs synthesis." [Ames, Iowa : Iowa State University], 2007.

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Guo, Ling. "Identification of novel SLE susceptibility genes by microarray analysis and candidate gene association study." Oklahoma City : [s.n.], 2008.

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26

McSweeny, Andrew J. "Identification of Candidate Genes within Blood Pressure QTL Containing Regions Using Gene Expression Data." University of Toledo Health Science Campus / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=mco1212501779.

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Oliveira, Mariana Angelozzi de. "Caracterização de rearranjos cromossômicos em pacientes com malformações congênitas múltiplas e/ou retardamento mental (MCA/MR)." Universidade de São Paulo, 2008. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-08072008-110038/.

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As alterações cromossômicas estruturais associadas a fenótipos clínicos oferecem a oportunidade de identificação e localização de genes cujas mutações possam estar determinando essas patologias, tendo em vista a possibilidade de que esses genes podem ter sido alterados pelas quebras ou ter o número de cópias modificado. Um número cada vez maior de evidências aponta para a participação de certas seqüências do genoma na formação de rearranjos cromossômicos recorrentes e não recorrentes. Este trabalho compreendeu o estudo de duas translocações cromossômicas aparentemente equilibradas e uma duplic

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Abou-Khater, Charbel. "Caractérisation de nouveaux gènes et polymorphismes potentiellement impliqués dans les interactions hôtes-pathogènes." Thesis, Aix-Marseille, 2017. http://www.theses.fr/2017AIXM0196/document.

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La coévolution ainsi que les différentes interactions entre hôte et pathogène contribuent à former la diversité génétique de ces deux organismes. Dans le cadre de cette thèse, nous nous sommes intéressés à l’étude de la variabilité génétique de 1760 gènes immunitaires choisis suivant des critères définis, pour essayer d’expliquer pourquoi il existe une variation individuelle face aux infections. L’objectif principal de ce projet était alors de caractériser et d'analyser de nouveaux gènes et polymorphismes immunitaires pouvant expliquer le contrôle ou la susceptibilité à certaines infections. D

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Guitton, Baptiste. "Genetic control of biennial bearing in apple." Thesis, Montpellier, SupAgro, 2011. http://www.theses.fr/2011NSAM0048.

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L'alternance de production est définie comme la charge en fruit d'un arbre irrégulière sur plusieurs années consécutives. La principale hypothèse en soulignant l'alternance est que la charge en fruits d'une année en cours inhibe la formation de fleurs pour l'année suivante. Ce phénomène génère d'importants problèmes agronomiques pour les espèces fruitières comme le pommier, en réduisant la production de fruits au cours des années 'OFF' et la qualité des fruits au cours des années 'ON', tout en augmentant les coûts de gestion des vergers, en particulier pour l'éclaircissage des fruits. Une stra

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Gameeldien, Hajirah. "The identification of candidate genes using cDNA microarray and the analysis of two SNPs of the reelin gene in a South African austistic population." Thesis, University of the Western Cape, 2009. http://etd.uwc.ac.za/index.php?module=etd&action=viewtitle&id=gen8Srv25Nme4_3430_1297755889.

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<p>Autism is a pervasive developmental disorder (PDD) that&rsquo<br>s incidence is approximately 1 in 158. It is four times more prevalent in males than females and is believed to be caused by both genetic and environmental factors. Research indicates that several genes are involved in autism and it is believed that these genes act together to produce autism. Many genes implicated in this disorder are involved with brain structure formation and brain functioning. Studies have identified the reelin (RELN) gene as necessary for proper formation of brain, which indicates that RELN abnormalities c

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ROSIER, MARIE-FRANCOISE. "Du gene bdnf a l'identification de nouveaux genes candidats pour le retard mental associe au syndrome wagr." Paris 7, 1996. http://www.theses.fr/1996PA077121.

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Le syndrome wagr (predisposition a la tumeur de wilms, aniridie, anomalies genito-urinaires, retard mental) survient lors de la deletion de la bande p13 du chromosome 11. Bien que les genes responsables de la tumeur de wilms et de l'aniridie aient ete caracterises, les genes impliques dans le retard mental lie a ce syndrome restent a identifier. Les resultats presentes dans cette these sont une contribution a ce travail. Dans un premier temps, nous avons construit une carte physique autour du gene codant pour le facteur neurotrophique derive du cerveau, localise en 11p13, sous forme d'un conti

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Haddadi, Parham. "Analyse physiologique et génétique combinées pour améliorer le contenu en huile et la qualité du tournesol soumis à la sécheresse." Thesis, Toulouse, INPT, 2010. http://www.theses.fr/2010INPT0114/document.

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Le tocophérol, le phytostérol, le pourcentage de protéines des graines, l'huile et les teneurs en acides gras ont été mesurés dans une population de lignées recombinantes (RILS) de tournesol, cultivées sous conditions de sécheresse, irrigation et semis tardif. Une analyse génétique de QTL a été réalisée à partir de ces mesures, en utilisant une carte génétique basée sur des marques SSR et avec des gènes candidats (1) impliqués dans la voie métabolique de tocophérol et phytostérol, (2) des gènes codant des antioxydants enzymatiques, (3) des gènes liés à la sécheresse et (4) des gènes homologues

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Oliveira, Priscila Silva Neubern de. "Identificação de regiões genômicas e genes candidatos posicionais e funcionais para características de eficiência alimentar em bovinos da raça Nelore." Universidade Federal de São Carlos, 2014. https://repositorio.ufscar.br/handle/ufscar/5423.

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Made available in DSpace on 2016-06-02T20:20:37Z (GMT). No. of bitstreams: 1 6268.pdf: 2312191 bytes, checksum: f16c107fdc91ed439efa845247c55dc4 (MD5) Previous issue date: 2014-06-30<br>Financiadora de Estudos e Projetos<br>This thesis has been divided into three chapters for better understanding of the experiments. The first chapter refers to a brief Literature Review, with the main concepts and justifications for this work. The second chapter discusses the strategy of positional and functional candidate genes for traits of feed efficiency in Nelore cattle, and the third chapter presents a

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Carolino, Maria Inês Alves de Carvalho Martins. "Influências genéticas nas características da carcaça e carne em bovinos." Doctoral thesis, Universidade de Lisboa. Faculdade de Medicina Veterinária, 2015. http://hdl.handle.net/10400.5/11653.

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Tese de Doutoramento em Ciências Veterinárias - Especialidade de Produção Animal<br>A seleção das características da carcaça e da qualidade da carne, que são normalmente avaliadas post-mortem, é complicada, pelo que a utilização de marcadores moleculares pode constituir uma estratégia alternativa no melhoramento genético animal. Neste trabalho utilizaram-se 273 amostras de bovinos de 9 raças/populações provenientes do Brasil (Angus, Holstein, Simental, cruzados Pardo Suíço x Holstein, Montana, cruzados Guzerá x Holstein, Gir, Nelore e Tabapuã) e de 211 amostras de animais das raças Blanc

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Knight, Helen Miranda. "Candidate gene studies in psychiatric illness." Thesis, University of Edinburgh, 2009. http://hdl.handle.net/1842/6508.

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Schizophrenia, bipolar disorder and major depression are common, heritable neuropsychiatric conditions and yet the source of the inherited risk remains largely unknown. This thesis focuses on two complementary strategies for identifying and characterising the genetic component of these illnesses: homozygosity mapping in consanguineous pedigrees, and genetic and neurobiological investigations of candidate genes identified by the analysis of structural chromosomal abnormalities carried by patients with psychiatric diagnoses. In a family of a cousin marriage, five of six offspring presented with

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Kellar-Wood, Helen Fiona. "Candidate susceptibility genes in multiple sclerosis." Thesis, University of Cambridge, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.361751.

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Hodges, Laura M. "Candidate gene analysis of panic disorder." Diss., Search in ProQuest Dissertations & Theses. UC Only, 2008. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:3311346.

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Rymer, Karen. "Identification of Candidate Genes for Craniosynostosis." VCU Scholars Compass, 2015. http://scholarscompass.vcu.edu/etd/3782.

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Craniosynostosis is a disorder characterized by the premature fusing of cranial sutures in an infant. Premature closure of these sutures can lead to detrimental consequences on the development of a child. The two broad categories of craniosynostosis are classified as syndromic and nonsyndromic. Nonsyndromic craniosynostosis involves only the fusion of one or more sutures, whereas syndromic craniosynostosis involves other abnormalities throughout the body of the affected individual. Two of the families analyzed in this study were of the syndromic nature, and known FGFR mutations were discovered

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Cheung, John Kwok Shing. "Identifying candidate genes for ischaemic stroke." Thesis, University of Aberdeen, 2004. http://digitool.abdn.ac.uk/R?func=search-advanced-go&find_code1=WSN&request1=AAIU194105.

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Our approach in identifying candidate genes for ischaemic stroke involved the selection and genotyping of common polymorphisms of genes which may influence one of the major risk factors for stroke. Materials and Methods. DNA from Caucasian populations of control subjects and stroke patients was made available for PCR and subsequent genotyping, which included RFLP analysis, DASH and microsatellite analysis. Our chosen genes included the GNbeta3 gene (the C825T polymorphism), the p22PHOX gene the C242T and A640G polymorphisms) and the ERalpha gene (the PvuII, XbaI SNPs and TA dinucleotide tandem

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Benlian, Pascale. "Genetique des dyslipoproteinemies : approche gene candidat." Paris 6, 1994. http://www.theses.fr/1994PA066043.

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Les dyslipoproteinemies sont des anomalies du metabolisme des lipoproteines qui predisposent a l'atherosclerose, dont les complications cardiovasculaires sont frequentes. La complexite du metabolisme des lipoproteines, systeme ouvert de transport des lipides, rend compte de l'heterogeneite phenotypique et genetique des dyslipoproteinemies. L'exploration de leur predispositions genetiques a nettement progresse grace aux recents developpements de la biologie moleculaire. L'approche gene candidat qui consiste a tester l'implication d'un gene connu du metabolisme des lipoproteines dans la predispo

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Pértille, Fábio. "Identificação de polimorfismos associados às características de desempenho e carcaça no cromossomo 4 da galinha (Gallus gallus)." Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/11/11139/tde-22032013-101139/.

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Dentre o setor agropecuário, a avicultura é a que mais tem demonstrado índices de evolução nos últimos anos. Esses avanços são obtidos principalmente por meio da nutrição, manejo dos animais e seleção genética. A biotecnologia tem ganhado papel de destaque com o uso de marcadores moleculares como ferramenta para acrescentar informações genômicas aos processos de melhoramento convencional. Estudos anteriores em uma população F2 originada do cruzamento de frangos de corte e postura permitiram a identificação de um SNP no gene FGFBP1 (Proteína de ligação do fator de crescimento do fibroblasto 1)

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Manto, Kara Lynne Elizabeth. "Evidence of haploid gene expression of sex-linked candidate genes for putative sex-chromosome specific proteins." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2001. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp04/MQ56347.pdf.

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Ong, Kwok-leung, and 王國良. "Genetic variants of obesity- and inflammation-related genes in hypertension: genetic association studiesusing candidate gene approach." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B45200555.

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Kalous, Jay Robert. "Candidate gene association mapping in spring wheat." Thesis, Montana State University, 2011. http://etd.lib.montana.edu/etd/2011/kalous/KalousJ0511.pdf.

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Association mapping (AM) is a form of quantitative trait locus (QTL) mapping that utilizes a collection of germplasm rather than a structured mapping population. Marker/trait associations are made through the application of a mixed-effects model that corrects for population stratification. The objective of this study was to evaluate the application of association mapping on a selection of elite spring wheat cultivars. We tested marker/trait associations for known "perfect" markers and markers identified as controlling traits of interest through traditional bi-parental mapping. We als

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Swarbrick, Michael. "Candidate genes for obesity and related phenotypes." University of Western Australia. Dept. of Pathology, 2002. http://theses.library.uwa.edu.au/adt-WU2004.0033.

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The current epidemic of obesity poses a substantial threat to public health worldwide. Obesity is associated with many deleterious health conditions, including type 2 diabetes, hypertension, dyslipidaemia, respiratory conditions, arthritis, and some forms of cancer. Moreover, the rising prevalence of obesity has been accompanied by a substantial increase in the cost of treating these conditions. Obesity results from a complex interaction between behavioural, environmental, and genetic factors. While the recent increase in the prevalence of obesity is largely due to behavioural factors (for exa

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Kauppi, Paula. "Asthma candidate genes in the Finnish population." Helsinki : University of Helsinki, 2001. http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/kauppi/.

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Schmidt, Xenia. "TOX3 : a candidate breast cancer predisposition gene." Thesis, University of St Andrews, 2012. http://hdl.handle.net/10023/3104.

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Kalweit, Kerry. "Prioritisation of candidate genes for psychiatric disorders." Master's thesis, University of Cape Town, 2013. http://hdl.handle.net/11427/21223.

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The application of genome-wide association studies and next-generation sequencing has had limited success in identifying causal genes for complex diseases. Bipolar disorder is one such disease whose aetiology has not been elucidated despite the application of these technologies. Candidate gene prioritisation offers a solution to limit the vast amount of possible candidate genes produced from the combination of data sources. Current prioritisation tools rely heavily on previous data and thus do not perform well for poorly characterised diseases such as bipolar disorder. Here we have devel

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Schmidt, Xénia. "TOX3 – A candidate breast cancer predisposition gene." Thesis, Bordeaux 2, 2011. http://www.theses.fr/2011BOR21831/document.

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Deux tiers des cancers du sein expriment le récepteur à l’estrogène alpha (REα) et leur croissance dépend des estrogènes alors que l’expression de REα induit la différenciation et la sénescence des cellules humaines mammaires épithéliales normales. Le développement embryonnaire et la différenciation de la glande mammaire adulte sont contrôlés par des facteurs de transcription, dont beaucoup sont aussi impliqués dans la tumorigenèse. Plusieurs études d'association pan-génomiques ont identifié le putatif facteur de transcription TOX high mobility group box family member 3 (TOX3) comme un nouveau

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Judson, Hannah. "Investigation of candidate imprinted tumour suppressor genes." Thesis, University of Edinburgh, 2001. http://hdl.handle.net/1842/28316.

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Imprinting is an epigenetic phenomenon that silences one allele of a gene, so that expression in one or more cell types is exclusively monoallelic, and dependent on parental origin. Approaches used to identify novel imprinted genes rely on characteristic features such as the clustering of imprinted genes, or their association with differentially methylated CpG islands. An imprinted tumour suppressor gene involved in pathogenesis of neuroblastoma is believed to lie within chromosome 1p36. In this region, a search was initiated for imprinted genes in the vicinity of the imprinted gene <i>TP73.</

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