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Dissertations / Theses on the topic 'Diseases - genetic mapping'

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1

Einarsdottir, Elisabet. "Mapping genetic diseases in northern Sweden." Doctoral thesis, Umeå universitet, Medicinsk biovetenskap, 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-499.

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The population of northern Sweden has previously been shown to be well suited for the mapping of monogenic diseases. In this thesis we have tested the hypothesis that this population could also be used for efficient identification of risk genes for common diseases. In Paper I we have hypothesised that despite the admixture of Swedish, Finnish and Sami, the northern Swedish population consists of sub-populations geographically restricted by the main river valleys running through the region. This geographic isolation, in combination with founder effects and genetic drift, could represent a uniqu
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2

Einarsdóttir, Elísabet. "Mapping genetic diseases in northern Sweden." Umeå : Department of Medical Biosciences, Umeå University, 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-499.

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3

Guo, Youling, and 郭友玲. "Genetic and genomic mapping of common diseases." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B50533861.

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 Genome-wide mapping of susceptibility genes was conducted in two complex disorders of hypertension and epilepsy, allowing the dissection of the genetic architecture of these common diseases and related quantitative traits. The study performed comprehensive genetic analyses in a genome-wide scale, using different structure of data – sib-pairs and case-control samples. To identify genes influencing hypertension and blood pressure, a combined linkage and association study was conducted using over half a million SNPs genotyped in 328 siblings. Regions of significant linkage were identified fo
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O'Connell, Jeffrey R. "Algorithms for linkage analysis, error detection and haplotyping in pedigrees." Thesis, University of Oxford, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325622.

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5

Prokunina, Ludmila. "Strategies for Identification of Susceptibility Genes in Complex Autoimmune Diseases." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2004. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4138.

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6

Standing, A. S. I. "Genetic mapping for the discovery of novel genes causing autoinflammatory diseases." Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1417187/.

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The autoinflammatory syndromes are an emerging group of diseases, some with defined genetic cause, characterised by seemingly unprovoked inflammation which derives from a disruption of innate immunity. Novel as yet undefined syndromes are increasingly recognised in consanguineous families who may have normal parents and both affected and unaffected offspring. This type of family is ideal for genetic mapping as both copies of the (presumed recessive) disease causing alleles are likely to have originated in a recent shared common ancestor, and may be linked with markers which will be homozygous
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7

Ramburan, Viresh Premraj. "Genetic mapping of adult plant stripe rust resistance in the wheat cultivar Kariega." Thesis, Stellenbosch : Stellenbosch University, 2003. http://hdl.handle.net/10019.1/53438.

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Thesis (PhD (Agric)) -- Stellenbosch University, 2003.<br>ENGLISH ABSTRACT: Stripe (yellow) rust of wheat, caused by Puccinia striiformis f.sp. tritici, was first detected as a single introduction into South Africa in 1996. Two additional pathotypes have since been identified. Control of the disease may be achieved by use of genetic adult plant resistance (APR) as is present in the local cultivar 'Kariega'. The aim of this project was to understand the genetic basis of the APR in 'Kariega' to facilitate breeding of new varieties with genetic resistance to stripe rust. A partial linkage
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8

Bell, Martyn V. "A physical analysis of the fragile X (FRAXA) region in man." Thesis, University of Oxford, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.302861.

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9

Schramm, Heather Elizabeth. "Development of mapping by admixture linkage disequilibrium for understanding human complex genetic diseases /." For electronic version search Digital dissertations database. Restricted to UC campuses. Access is free to UC campus dissertations, 2003. http://uclibs.org/PID/11984.

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10

Bierman, Anandi. "Mapping and survey sequencing of Dn resistance genes in Triticum aestivum L." Thesis, Stellenbosch : Stellenbosch University, 2015. http://hdl.handle.net/10019.1/96912.

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Thesis (PhD)--Stellenbosch University, 2015<br>ENGLISH ABSTRACT : Diuraphis noxia Kurdjumov (Russian Wheat Aphid; RWA) is a pest of wheat and barley that has spread from its home range in the fertile crescent to most wheat producing countries except Australia. Since its first introduction to South Africa and the USA in the late 20th century, breeding programs for wheat phenotypes resistant to the aphid were put in place. Conventional breeding practices rely on phenotypic screening to verify traits carried by offspring and genetic tools such as marker assisted selection (MAS) have greatly aide
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11

Phipps, Maude Elvira. "The physical mapping of chromosome 3p25-26 : a region involved in Von Hippel-Lindau disease and chromosome 3p deletion syndrome." Thesis, University of Cambridge, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.336776.

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12

Shrestha, Roshi. "A physiological and genetic mapping study of tolerance to root-knot nematode in rice." Thesis, Available from the University of Aberdeen Library and Historic Collections Digital Resources, 2008. http://digitool.abdn.ac.uk:80/webclient/DeliveryManager?application=DIGITOOL-3&owner=resourcediscovery&custom_att_2=simple_viewer&pid=24807.

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13

Graham, Jinko. "Disequilibrium fine-mapping of a rare allele via coalescent models of gene ancestry /." Thesis, Connect to this title online; UW restricted, 1998. http://hdl.handle.net/1773/9568.

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14

Qianren, Jin. "Search for susceptibility loci and candidate genes for breast cancer /." Stockholm, 2004. http://diss.kib.ki.se/2004/91-7140-030-3/.

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15

Sharma, Sapna. "Genetics of Wheat Domestication and Septoria Nodorum Blotch Susceptibility in Wheat." Thesis, North Dakota State University, 2019. https://hdl.handle.net/10365/29767.

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T. aestivum ssp. spelta Iranian type has long been thought to potentially be the direct non-free threshing hexaploid progenitor. I evaluated a RIL population derived from a cross between CS and Iranian spelta accession P503 to identify loci suppressing free-threshabilty in P503. Identification of QTL associated with threshability in region known to harbor the Tg2A gene, and an inactive tg2D allele supported the hypothesis of Iranian spelta being derived from a more recent hybridization between free-threshing hexaploid and emmer wheat. Parastagonospora nodorum is an important fungal pathogen an
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16

Van, Zyl Sonet. "Inheritance and genetic mapping of Xiphinema index resistance derived from Vitis arizonica." Thesis, Stellenbosch : Stellenbosch University, 2012. http://hdl.handle.net/10019.1/71823.

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Thesis (PhD(Agric))--Stellenbosch University, 2012.<br>ENGLISH ABSTRACT: Grapevines are one of the most important and diverse crops in the world, but tend to be susceptible for numerous pests and diseases. The dagger nematode, Xiphinema index (X. index) is a well-known soil-borne pest of grapevine and vector of grapevine fanleaf virus. Several Vitis species showed resistance to this pest. Breeding efforts have been underway for several decades to create resistant rootstocks. However, conventional breeding efforts are time consuming due to grapevines being a perennial crop, its heterozygos
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Veereshlingam, Harita. "Characterization of Infection Arrest Mutants of Medicago Truncatula and Genetic Mapping of Their Respective Genes." Thesis, University of North Texas, 2005. https://digital.library.unt.edu/ark:/67531/metadc5567/.

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In response to compatible rhizobia, leguminous plants develop unique plant organs, root nodules, in which rhizobia fix nitrogen into ammonia. During nodule invasion, the rhizobia gain access to newly divided cells, the nodule primordia, in the root inner cortex through plant-derived cellulose tubes called infection threads. Infection threads begin in curled root hairs and bring rhizobia into the root crossing several cell layers in the process. Ultimately the rhizobia are deposited within nodule primordium cells through a process resembling endocytosis. Plant host mechanisms underlying the for
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18

Adeyanju, Adedayo. "Genetic study of resistance to charcoal rot and Fusarium stalk rot diseases of sorghum." Diss., Kansas State University, 2014. http://hdl.handle.net/2097/17559.

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Doctor of Philosophy<br>Department of Agronomy<br>Tesfaye Tesso<br>Fusarium stalk rot and charcoal rot caused by Fusarium thapsinum and Macrophomina phaseolina respectively are devastating global diseases in sorghum that lead to severe quality and yield loss each year. In this study, three sets of interrelated experiments were conducted that will potentially lead to the development of resistance based control option to these diseases. The first experiment was aimed at identifying sources of resistance to infection by M. phaseolina and F. thapsinum in a diverse panel of 300 sorghum genotypes.
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19

Hollis-Moffatt, Jade Elissa, and n/a. "Fine mapping and characterisation of an autoimmune diabetes locus, insulin dependent diabetes 21, (Idd21) on mouse chromosome-18." University of Otago. Department of Biochemistry, 2006. http://adt.otago.ac.nz./public/adt-NZDU20070130.151657.

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Autoimmune disease is comprised of a wide variety of disorders characterised by a loss of self-tolerance towards a target organ or systemic region leading to its eventual destruction. Type 1 diabetes (T1D), autoimmune thyroid disease (AITD) and inflammatory bowel disease (IBD) are debilitating organ-specific disorders. These disorders arise from a combination of genetic factors and environmental triggers. A greater level of basic understanding of these disorders is required to delay and/or prevent their effects. Numerous autoimmune susceptibility loci have been implicated in the development of
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20

Aryamanesh, Nader. "Chickpea improvement through genetic analysis and quantitative trait locus (QTL) mapping of ascochyta blight resistence using wild Cicer species /." Connect to this title, 2007. http://theses.library.uwa.edu.au/adt-WU2008.0072.

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21

Fry, Andrew E. "Genome mapping of malaria resistance genes : the host ligands of PfEMP1." Thesis, University of Oxford, 2009. http://ora.ox.ac.uk/objects/uuid:df1ffe4b-ba67-4fc6-9024-b278b887d4f9.

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Erythrocytes infected by mature forms of the Plasmodium falciparum parasite adhere to other components of the vascular space, a behavior considered critical to the pathogenesis of severe malaria. Adhesion is mediated by the P. falciparum erythrocyte membrane protein 1 (PfEMP1), a highly variant antigen expressed by the parasite and subject to switching during the course of an infection. The host ligands of PfEMP1 include CD36, ICAM-1 and the ABO antigens. By employing a series of population- and family-based association studies from multiple African populations, we examined whether variation i
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22

Galagedara, Nelomie Nayanathara. "Identification of Quantitative Trait Loci for Resistance to Tan Spot in Durum Wheat." Thesis, North Dakota State University, 2018. https://hdl.handle.net/10365/28765.

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Tan spot, caused by Pyrenophora tritici-repentis (Ptr), is a major foliar disease on wheat. The pathosystem involves three pairs of necrotrophic effector (NE) and host sensitivity (S) gene interactions, namely Ptr ToxA-Tsn1, Ptr ToxB-Tsc2 and Ptr ToxC-Tsc1. Additionally, genetic factors conferring race-nonspecific resistance have been identified. The objectives of this study were to map tan spot resistance QTL and investigate the role of NE-S interactions in disease in durum using association and bi-parental mapping. Evaluation of a worldwide collection of durum accessions allowed identifying
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23

Aryamanesh, Nader. "Chickpea improvement through genetic analysis and quantitative trait locus (QTL) mapping of ascochyta blight resistence using wild Cicer species." University of Western Australia. School of Plant Biology, 2008. http://theses.library.uwa.edu.au/adt-WU2008.0072.

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[Truncated abstract] The genetics of ascochyta blight resistance was studied in five 5 x 5 half-diallel cross sets involving seven genotypes of chickpea (ICC 3996, Almaz, Lasseter, Kaniva, 24B-Isoline, IG 9337 and Kimberley Large), three accessions of Cicer reticulatum (ILWC 118, ILWC 139 and ILWC 184) and one accession of C. echinospermum (ILWC 181) under field conditions. Both F1 and F2 generations were used in the diallel analysis. Almaz, ICC 3996 and ILWC 118 were the most resistant genotypes. Estimates of genetic parameters, following Hayman's method, showed significant additive and domin
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24

Melville, Scott Andrew Biotechnology &amp Biomolecular Sciences Faculty of Science UNSW. "Disease gene mapping in border collie dogs." Awarded by:University of New South Wales. School of Biotechnology and Biomolecular Sciences, 2006. http://handle.unsw.edu.au/1959.4/25511.

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Pedigree dog breeds are genetically isolated and inbred populations with characteristics specific to each breed. Some breeds carry genetic diseases which affect the health of the animals, but may also serve as a valuable model to identify genes involved in human disease. In the Border Collie breed in Australia, the identification of two disease genes would enable breeders to DNA test their animals and prevent future cases. Over 530 samples were collected to identify the genes responsible for these diseases through linkage mapping and candidate gene approaches. Collie Eye Anomaly (CEA) defines
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25

Fernandez, Pedro. "A candidate and novel gene search to identify the PFHBII-causative gene." Thesis, Stellenbosch : Stellenbosch University, 2004. http://hdl.handle.net/10019.1/36913.

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Thesis (PhD)--Stellenbosch University, 2004.<br>Bibliography<br>ENGLISH ABSTRACT: Heart failure due to cardiomyopathy or cardiac conduction disease is a major cause of mortality and morbidity in both developed and developing countries. Although defined as separate clinical entities, inherited forms of cardiomyopathies and cardiac conduction disorders have been identified that present with overlapping clinical features and/or have common molecular aetiologies. The objective of the present study was to identify the molecular cause of progressive familial heart block type II (PFHBII), an in
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26

Moody, Adrian John. "Mapping genetic resistance to infectious bursal disease." Thesis, University of Reading, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.326754.

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27

Good, David Andrew, and n/a. "Genetic Loci for Paget's Disease of Bone." Griffith University. School of Biomolecular and Biomedical Science, 2003. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20040319.125358.

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Paget's disease of the bone is a skeletal disorder of unknown cause. This disease is characterised by excessive and abnormal bone remodelling brought about by increased bone resorption followed by disorganised bone formation. Increased bone turnover results in a disorganised mosaic of woven and lamellar bone at affected skeletal sites. This produces bone that is expanded in size, less compact, more vascular, and more susceptible to deformity or fracture than normal bone. Symptoms of Paget's disease may include bone pain, bone deformity, excessive warmth over bone from hypervascularity, sec
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Magnusson, Veronica. "Genetic studies on Systemic Lupus Erythematosus : A fine mapping and candidate gene approach." Doctoral thesis, Uppsala University, Department of Genetics and Pathology, 2002. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2869.

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<p>Linkage in the 2q37 region was evaluated using microsatellite markers in multi-case families from Sweden, Iceland and Norway. Both the two-point and the multipoint linkage analysis show highly significant LOD scores (Z=4.51 and 6.03, respectively). Linkage disequilibrium mapping indicates that some association exists in this region. The <i>PDCD1</i> gene was suggested as a candidate gene within the 2q37 locus due to its importance in immune regulation. Indeed, one haplotype, described by the presence of allele A of the PD1.3 SNP located within intron 4 of this gene, shows linkage to SLE in
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Skipper, Lisa Marie. "Parkinson's disease susceptibility : genetic mapping in an isolated population." Thesis, University College London (University of London), 2005. http://discovery.ucl.ac.uk/1446678/.

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Parkinson's disease (PD) is an aetiologically complex, progressive and debilitating neurodegenerative disorder that primarily affects the elderly population. It is characterised clinically by the presence of motor symptoms including resting tremor, bradykinesia and rigidity; pathologically by neuronal loss within mid brain regions and intraneuronal inclusions comprising numerous protein aggregates. Disease risk factors are both environmental and genetic. To date, at least 10 genetic loci are implicated and specific mutations have been identified in SNCA, PRKN, UCH-Ll, DJ-1 and PINKL Variabilit
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Groenewald, Johannes Zacharias. "Tagging and mapping of prominent structural genes on chromosome arm 7DL of common wheat." Thesis, Stellenbosch : Stellenbosch University, 2001. http://hdl.handle.net/10019.1/52474.

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Thesis (PhD (Agric)) -- Stellenbosch University, 2001.<br>ENGLISH ABSTRACT: Chromosome arm 7DL of common wheat carries genes for agronomically important traits such as leaf rust, stem rust, Russian wheat aphid and eye spot resistance. Some of these genes occur on introgressed foreign chromatin, which restricts their utility in breeding. The 7DL genetic maps are poorly resolved, which seriously hampers attempts to manipulate the genes and introgressed regions in breeding. This dissertation represents an attempt to improve our knowledge of the relative map positions of three resistance gen
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31

Nordquist, Niklas. "Genetic Studies of Rheumatoid Arthritis using Animal Models." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2001. http://publications.uu.se/theses/91-554-5117-9/.

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32

Johanneson, Bo. "Genetic Mapping of Susceptibility Genes for Systemic Lupus Erythematosus." Doctoral thesis, Uppsala University, Department of Genetics and Pathology, 2002. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2950.

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<p>Systemic lupus erythematosus (SLE) is a complex autoimmune disease with unknown etiology. The aim of this thesis was to identify susceptibility regions through genetic mapping, using model-based linkage analysis on nuclear and extended SLE multicase families.</p><p>In the first paper we performed a genome scan on 19 genetically homogenous Icelandic and Swedish families. One region at 2q37 was identified with a significant linkage with contribution from both populations (Z=4.24). Five other regions 2q11, 4p13, 9p22, 9p13 and 9q13 showed suggestive linkage (Z>2.0).</p><p>In the second paper,
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33

Craig, Nicola Jane. "Genetic and physical mapping of the rat agu locus." Thesis, University of Glasgow, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.341722.

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34

Heyns, I. C. "Mapping and restructuring of an Ae. kotschyi derived translocation segment in common wheat." Thesis, Stellenbosch : University of Stellenbosch, 2010. http://hdl.handle.net/10019.1/5172.

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Thesis (PhD (Genetics))--University of Stellenbosch, 2010.<br>Includes bibliography.<br>ENGLISH ABSTRACT: The wild relatives are an important source of new genes for the genetic improvement of wheat. At Stellenbosch University the leaf and stripe rust resistance genes Lr54 and Yr37 were transferred from Aegilops kotschyi to chromosome 2DL of wheat. In an attempt to reduce the size of the whole-arm translocation on which the resistance genes occur, homoeologous pairing was induced between the wheat and corresponding Ae. kotschyi chromatin. The purpose of this study was to: (i) Evaluate th
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Pound, Susan Elizabeth. "Genetic and physical mapping of autosomal dominant polycystic kidney disease." Thesis, University of Edinburgh, 1994. http://hdl.handle.net/1842/20118.

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A sample of 35 families with ADPKD from central Scotland, previously typed with two markers from the PKD1 region [3'HVR. However, there is one recombinant with CMM65 (D16S84), and one with 26-6 (D16S125), which localises PKD1 to between these markers. In order to obtain cloned DNA from this genetically defined region of interest, spanning approximately 750 kb of DNA, yeast artificial chromosomes (YACs) were isolated from available libraries.
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Maller, Julian Benjamin. "Fine scale mapping of genetic loci associated with human disease." Thesis, University of Oxford, 2013. https://ora.ox.ac.uk/objects/uuid:2e1dcc74-cccb-4253-961c-431e965bf204.

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Genome-wide association studies (GWAS) use custom SNP arrays that provide ef- fective genetic coverage, but do not detail the association of confirmed susceptibil- ity regions with as dense a marker map as possible. In this thesis I will describe a fine mapping study across 14 associated regions, in 8,000 samples from three dis- eases (Type 2 diabetes mellitus (T2D), coronary artery disease (CAD) and Graves Disease (GD)) and a control group, including over 5,500 successfully genotyped SNPs. We defined using Bayes theorem sets of SNPs (credible sets) that were 95% likely (posterior probability)
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Heyns, I. C. "Mapping of chromosome arm 7DL of Triticum aestivum L." Thesis, Stellenbosch : University of Stellenbosch, 2005. http://hdl.handle.net/10019.1/1584.

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Thesis (MSc (Genetics))--University of Stellenbosch, 2005.<br>The Russian wheat aphid, Diuraphis noxia (Mordvilko), is a serious insect pest of wheat and barley. It affects the quality and yield of grain by sucking plant sap from the newest growth whilst toxic substances are injected that destroy plant tissue. The Russian wheat aphid also acts as a vector of plant viruses. The cultivation of aphid resistant cultivars is the preferred control strategy and nine resistance genes, designated Dn1 to Dn9, have been identified. Another undesignated gene, Dnx, was found in the wheat accession PI2
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Stephens, Sarah H. "Fine mapping of the chromosome 15q13-14 schizophrenia linkage region /." Connect to full text via ProQuest. Limited to UCD Anschutz Medical Campus, 2008.

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Thesis (Ph.D. in Human Medical Genetics) -- University of Colorado Denver, 2008.<br>Typescript. Includes bibliographical references (leaves 112-128). Free to UCD Anschutz Medical Campus. Online version available via ProQuest Digital Dissertations;
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Lehmensiek, Anke. "Genetic mapping of gray leaf spot resistance genes in maize." Thesis, Stellenbosch : Stellenbosch University, 2000. http://hdl.handle.net/10019.1/51776.

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Thesis (PhD)--Stellenbosch University, 2000.<br>ENGLISH ABSTRACT: Gray leaf spot (GLS) of maize, caused by the fungus Cercospora zeae-maydis, can reduce grain yields by up to 60% and it is now recognized as one of the most significant yield-limiting diseases of maize in many parts of the world. The most sustainable and long-term management strategy for GLS will rely heavily on the development of high-yielding, locally adapted GLS resistant hybrids. Molecular markers could be useful to plant breeders to indirectly select for genes affecting GLS resistance and to identify resistance genes
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Abecasis, G. R. "Methods for fine mapping complex traits in human pedigrees." Thesis, University of Oxford, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.365700.

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Djureinovic, Tatjana. "Investigation of genetic factors involved in colorectal cancer predisposition /." Stockholm, 2006. http://diss.kib.ki.se/2006/91-7140-864-9/.

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Dempton, Jennifer L. "Genetic intervention as a lifestyle approach an analysis of disease and treatment." Honors in the Major Thesis, University of Central Florida, 2011. http://digital.library.ucf.edu/cdm/ref/collection/ETH/id/368.

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Purpose: The scientific knowledge of how genes affect disease expression and evolution can facilitate more effective environmental and drug therapy interventions delivered by health care professionals. The purpose of this paper is to a) describe the role of genetic science in healthcare; b) explore genotype determinants for environmental and pharmacological interventions; c) and analyze ethical dilemmas, barriers to access, and allocation of resources based on genotype. Methods: A review of literature was conducted from the disciplines of nursing, medicine, psychology, and sociology using the
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Xiang, Fengqing. "Genetic studies of neurological disorders : Rett syndrome and HD-like familial prion disease /." Stockholm, 2001. http://diss.kib.ki.se/2001/91-628-4882-8/.

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Wessels, Willem Gerhardus. "Mapping genes for stem rust and Russian wheat aphid resistance in bread wheat (Triticum aestivum)." Thesis, Stellenbosch : Stellenbosch University, 1997. http://hdl.handle.net/10019.1/55580.

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Thesis ( MScAgric) -- Stellenbosch University, 1997.<br>ENGLISH ABSTRACT: Stem rust is considered the most damaging of the wheat rusts causing yield losses of more than 50% in epidemic years. Similarly, Russian wheat aphids (RWA) can be regarded as one ofthe most devastating insect pests of wheat. Yield losses due to R W A primarily result from a reduction in plant resources (sucking plant sap). Secondary losses are incurred by viruses transmitted during feeding. Mapping disease and insect resistance genes that are effective against prevailing pathotypes and biotypes of South Africa will
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McCallion, Andrew Smyth. "Characterisation and genetic mapping of genes with potential relevance to neurodegenerative disease." Thesis, University of Glasgow, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.241836.

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46

Tamashiro-Duran, Jaqueline Hatsuko. "Alterações metabólicas cerebrais associadas aos fatores de risco cardiovascular: um estudo de tomografia por emissão de pósitron (PET)." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/5/5142/tde-03012012-094605/.

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INTRODUÇÃO: Os fatores de risco cardiovascular (FRCV) afetam o fluxo sanguíneo cerebral, contribuindo possivelmente para o declínio cognitivo e a emergência da Doença de Alzheimer (DA), a forma mais comum de demência. A tomografia por emissão de pósitrons (positron emission tomography, PET) com fluordesoxiglucose F18 (18F-FDG) é largamente usada para demonstrar o padrão específico de metabolismo cerebral de glicose reduzido em sujeitos com DA e em indivíduos não-demenciados portadores do alelo e4 da apolipoproteína E (APOE e4), o maior fator de risco genético para DA. Entretanto, estudos de PE
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Stafford, Amanda Newland. "Physical mapping within human chromosome 11q12-q13 including the atopy locus." Thesis, University of Oxford, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.239248.

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Alston, Jessica Shea. "Genetic and Functional Studies of Non-Coding Variants in Human Disease." Thesis, Harvard University, 2012. http://dissertations.umi.com/gsas.harvard:10515.

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Genome-wide association studies (GWAS) of common diseases have identified hundreds of genomic regions harboring disease-associated variants. Translating these findings into an improved understanding of human disease requires identifying the causal variants(s) and gene(s) in the implicated regions which, to date, has only been accomplished for a small number of associations. Several factors complicate the identification of mutations playing a causal role in disease. First, GWAS arrays survey only a subset of known variation. The true causal mutation may not have been directly assayed in the GWA
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Dale, Mark. "Mapping and genetic analysis of the interleukin-1-receptor gene cluster in rheumatoid arthritis." Thesis, University of Sheffield, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.366156.

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Price, Sarah J. "The genetic and molecular characterization of the polycystic kidney disease-causing mouse gene BICC1." Huntington, WV : [Marshall University Libraries], 2004. http://www.marshall.edu/etd/descript.asp?ref=403.

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Thesis (Ph. D.)--Marshall University, 2004.<br>Title from document title page. Document formatted into pages; contains p. viii, 210 p. Includes abstract. Includes bibliographical references (p. 179-204).
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