Log in

Relevant bibliographies by topics / Genetic Diseases, Inborn – genetics / Dissertations / Theses

To see the other types of publications on this topic, follow the link: Genetic Diseases, Inborn – genetics.

Dissertations / Theses on the topic 'Genetic Diseases, Inborn – genetics'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 dissertations / theses for your research on the topic 'Genetic Diseases, Inborn – genetics.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse dissertations / theses on a wide variety of disciplines and organise your bibliography correctly.

1

Dubé, Nicholas Larsen Andrew. "Enhanced genetic screening plan for the B.C. molecular genetics laboratory : a five year business plan /." Burnaby B.C. : Simon Fraser University, 2007. http://ir.lib.sfu.ca/handle/1892/9369.

Full text

Abstract:

Research Project (M.B.A.) - Simon Fraser University, 2007.<br>Theses (Faculty of Business Administration) / Simon Fraser University. Senior supervisor: Dr. Aidan Vining -- Faculty of Business Administration. MBA-MOT Program. Also issued in digital format and available on the World Wide Web.

APA, Harvard, Vancouver, ISO, and other styles

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

3

Hill, John Stuart. "Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia." Thesis, University of British Columbia, 1990. http://hdl.handle.net/2429/28810.

Full text

Abstract:

Familial hypercholesterolemia (FH) is an autosomal dominant disorder in which the primary defect is a mutation in the LDL receptor. Heterozygous FH is among the most common inborn errors of metabolism and remains as the best example of an inherited defect causing premature coronary artery disease (CAD). This thesis describes the physical and biochemical characteristics of heterozygous FH in a large cohort consisting of 208 women and 156 men. The influence of both genetic and environmental factors on the clinical expression of FH were investigated to better understand the phenotypic variation

APA, Harvard, Vancouver, ISO, and other styles

4

Callander, Margarita. "Epidemiological and genetic studies of multiple sclerosis with focus on the Swedish county of Värmland /." Linköping : Linköpings universitet, 2006. http://www.bibl.liu.se/liupubl/disp/disp2006/med949s.pdf.

Full text

APA, Harvard, Vancouver, ISO, and other styles

5

Sundblom, Jimmy. "Autosomal Dominant Leukodystrophy with Autonomic Symptoms and Rippling Muscle Disease : Translational Studies of Two Neurogenetic Diseases." Doctoral thesis, Uppsala universitet, Neurologi, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-162048.

Full text

Abstract:

There is a large variety of diseases caused by single-gene mutations. Although most of these conditions are rare, together they impose a significant burden to the population. This thesis describes clinical and genetic studies of two single-gene diseases: 1) Adult-onset autosomal dominant leukodystrophy with autonomic symptoms (ADLD) caused by LMNB1 gene duplications, and characterized by autonomic, pyramidal and cerebellar symptoms. Spinal cords of patients with ADLD were studied by MRI and found to be thin, with high signal intensity in white matter. Histopathology showed loss of myelinated f

APA, Harvard, Vancouver, ISO, and other styles

6

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

7

Baratela, Wagner Antonio da Rosa. "Estudo genético-clínico das displasias esqueléticas, com enfoque nas osteocondrodisplasias com acometimento do esqueleto axial, associado ao envolvimento epifisário e/ou metafisário." Universidade de São Paulo, 2018. http://www.teses.usp.br/teses/disponiveis/5/5141/tde-02072018-120400/.

Full text

Abstract:

INTRODUÇÃO: As osteocondrodisplasias constituem um grupo heterogêneo de doenças que comprometem a formação, crescimento e desenvolvimento do sistema esquelético. O diagnóstico definitivo, principalmente nas formas com acometimento de coluna, epífise e/ou metáfise, é desafiador, devido à heterogeneidade genética, raridade de algumas formas específicas e da sobreposição de fenótipos clínico-radiológicos. OBJETIVOS: avaliar as características clínico-radiológicas e as bases moleculares de um grupo de pacientes com osteocondrodisplasias com envolvimento do esqueleto axial associado a anomalias epi

APA, Harvard, Vancouver, ISO, and other styles

8

Assumpção, Tatiana Malheiros. "Avaliação do perfil psiquiátrico de pacientes com mucopolissacaridoses." Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/47/47133/tde-24022014-094625/.

Full text

Abstract:

As mucopolissacaridoses (MPS) são um grupo de doenças metabólicas hereditárias causadas pela deficiência de enzimas lisossomais específicas, que causam alterações físicas e/ou comportamentais crônicas e progressivas. Um fenótipo comportamental é um padrão característico de observações motoras, cognitivas, linguísticas e sociais consistentemente associado a uma condição biológica. Tal fenótipo pode ser um transtorno mental ou outras características de comportamento não necessariamente associadas a transtornos. No caso específico das mucopolissacaridoses, embora haja diversos relatos na literatu

APA, Harvard, Vancouver, ISO, and other styles

9

Yamamoto, Guilherme Lopes. "Aplicabilidade clínica da técnica de sequenciamento de nova geração com enfoque em displasias esqueléticas." Universidade de São Paulo, 2017. http://www.teses.usp.br/teses/disponiveis/5/5141/tde-18122017-091713/.

Full text

Abstract:

INTRODUÇÃO: Na última década surgiu uma nova técnica, o sequenciamento de nova geração, que, contrário ao método tradicional de Sanger, permite o sequenciamento em paralelo e em larga escala de múltiplos genes, ou até mesmo todos os genes humanos, a menor custo e com uma análise mais acelerada. Essa técnica possibilitou a descoberta de novos genes responsáveis por diversas doenças mendelianas, sendo rapidamente incorporada no contexto clínico. OBJETIVOS: comparar os resultados das técnicas de Sanger e sequenciamento de nova geração em amostras controle; introduzir a técnica de sequenciamento d

APA, Harvard, Vancouver, ISO, and other styles

10

Simoni, Renata Zaccaria 1972. "Trombofilia hereditária em fetos com malformações de origem vascular = Genetic polymorphisms in fetuses with malformations of vascular origin." [s.n.], 2012. http://repositorio.unicamp.br/jspui/handle/REPOSIP/309004.

Full text

Abstract:

Orientador: Egle Cristina Couto de Carvalho<br>Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-21T14:08:16Z (GMT). No. of bitstreams: 1 Simoni_RenataZaccaria_D.pdf: 2332845 bytes, checksum: fc29ed8709fbdf31408d1968e76a01a0 (MD5) Previous issue date: 2012<br>Resumo: Contexto e objetivo: Algumas malformações congênitas têm origem vascular, e a trombose durante a organogênese já foi aventada como possível mecanismo para esta ocorrência. O objetivo deste estudo foi avaliar a associação entre trombofilia fetal e malformaçõ

APA, Harvard, Vancouver, ISO, and other styles

11

Miranda, Paulo Maurício do Amôr Divino 1982. "Alterações mitocondriais e nucleares associadas à neuropatia óptica." [s.n.], 2014. http://repositorio.unicamp.br/jspui/handle/REPOSIP/316698.

Full text

Abstract:

Orientador: Edi Lúcia Sartorato<br>Tese (doutorado) - Universidade Estadual de Campinas, Instituto de Biologia<br>Made available in DSpace on 2018-08-25T22:58:29Z (GMT). No. of bitstreams: 1 Miranda_PauloMauriciodoAmorDivino_D.pdf: 3949549 bytes, checksum: 8cd1e0647087ac34cd2bc0ed5d096d0b (MD5) Previous issue date: 2014<br>Resumo: A Neuropatia Óptica Hereditária de Leber (LHON) e a Atrofia Óptica Autossômica Dominante (ADOA ou OPA1) são doenças caracterizadas pela perda da visão bilateral, devido a uma degeneração do nervo óptico. Ambas as doenças apresentam também acuidade visual reduzida,

APA, Harvard, Vancouver, ISO, and other styles

12

Wong, Hei Sunny. "Genetic susceptibility to common mycobacterial diseases." Thesis, University of Oxford, 2010. http://ora.ox.ac.uk/objects/uuid:cb4dd818-4693-4168-ad8a-cdeb59e2d5f3.

Full text

Abstract:

Common mycobacterial diseases, including tuberculosis and leprosy, contribute to major mortality and morbidity worldwide. Despite evidence of an important role of host genetic factors in susceptibility to these infections, few compelling genetic associations have been identified with previous candidate gene and linkage approaches. This thesis investigates the genetic factors of human immunity to these mycobacterial diseases using a high-throughput approach of association testing. To assess genetic susceptibility to tuberculosis, I have conducted a genome-wide association study in the Gambian p

APA, Harvard, Vancouver, ISO, and other styles

13

Dahlman, Ingrid. "Genetic dissection of experimental autoimmune neuroinflammatory diseases in rats /." Stockholm, 1999. http://diss.kib.ki.se/1999/91-628-3768-0/.

Full text

APA, Harvard, Vancouver, ISO, and other styles

14

Mills, Tara Carolyn. "Human genetic susceptibility to common infectious diseases in Europe." Thesis, University of Oxford, 2012. http://ora.ox.ac.uk/objects/uuid:fc88b1f2-5930-46cd-a196-761301b7cb29.

Full text

Abstract:

Lower respiratory tract infections (LRTIs) are one of the most common infectious diseases in Europe and worldwide. Very little is known about the genetic factors associated with susceptibility to LRTI and so far studies have only analysed candidate gene loci. This work aimed to find genetic loci associated with susceptibility to severe and mild LRTI. To analyse severe LRTI, a European cohort of community acquired pneumonia (CAP) sepsis patients was used. To analyse mild LRTI, patients attending primary care with a cough were recruited across Europe. Two important candidate genes for susceptibi

APA, Harvard, Vancouver, ISO, and other styles

15

Åhlberg, Gabrielle. "Welander distal myopathy : clinical and genetic studies /." Stockholm, 1998. http://diss.kib.ki.se/1998/91-628-3263-8/.

Full text

APA, Harvard, Vancouver, ISO, and other styles

16

So, Hon-cheong, and 蘇漢昌. "Genetic architecture and risk prediction of complex diseases." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B4452805X.

Full text

APA, Harvard, Vancouver, ISO, and other styles

17

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

18

Roberts, Lisa Jane. "Genetic analysis of inherited retinal diseases in indigenous Southern African populations." Doctoral thesis, University of Cape Town, 2017. http://hdl.handle.net/11427/25419.

Full text

Abstract:

Background: Inherited retinal diseases (IRDs) constitute a group of clinically and genetically heterogeneous conditions which cause degeneration of retinal photoreceptor cells and result in visual impairment. Characterisation of the genetic basis of IRD is not only beneficial for the affected families, but also contributes towards understanding of the disease pathobiology. Investigations into the molecular basis of IRDs have been ongoing in South Africa (SA) for over 30 years, however the evaluation of reported genetic mutations has yielded low returns in certain populations. Indigenous southe

APA, Harvard, Vancouver, ISO, and other styles

19

Nevin, Zachary Scott. "MODELING GENETIC DISEASES OF MYELIN USING PATIENT-DERIVED INDUCED PLURIPOTENT STEM CELLS." Case Western Reserve University School of Graduate Studies / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=case149943464888633.

Full text

APA, Harvard, Vancouver, ISO, and other styles

20

Sheehan, Susan. "Exploring the Genetics Regulating Kidney Function." Fogler Library, University of Maine, 2007. http://www.library.umaine.edu/theses/pdf/SheehanS2007.pdf.

Full text

APA, Harvard, Vancouver, ISO, and other styles

21

Hu, Xinli. "Discovery and Functional Interpretation of Genetic Risk in Autoimmune Diseases." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:17467297.

Full text

Abstract:

Autoimmune diseases are chronic and debilitating conditions arising from abnormal immune responses directed against normal body tissues; they collectively affect the lives of 5-10% of the world population. These diseases often show familial clustering, suggesting strong genetic heritability. For many of autoimmune diseases, variation in the human leukocyte antigen (HLA) genes is the primary modulator of genetic risk. Recently, genome-wide association studies (GWAS) identified hundreds of genomic regions outside the HLA that harbor additional risk-conferring variants. The ultimate goal is to id

APA, Harvard, Vancouver, ISO, and other styles

22

Ndungu, Anne. "Rare genetic variants and susceptibility to severe bacterial diseases." Thesis, University of Oxford, 2015. https://ora.ox.ac.uk/objects/uuid:9c5745f9-50f9-469a-8771-2e49e75db7ac.

Full text

Abstract:

Infectious diseases are a major cause of morbidity and mortality worldwide. Streptococcus pneumoniae and Neisseria meningitidis are major causes of severe bacterial disease which can manifest as invasive disease such as bacteraemia and meningitis. Exposure to these pathogens is relatively widespread, yet only a minority of individuals develop invasive disease. A host genetic component to infectious disease susceptibility has been implied from twin and adoptee studies. A role for rare large effect genetic variants in predisposition to infection has been demonstrated through the study of individ

APA, Harvard, Vancouver, ISO, and other styles

23

Carter, Kevin C. (Kevin Craig). "Population genetic variation at the human phenylalanine hydroxylase locus." Thesis, McGill University, 1996. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=23991.

Full text

Abstract:

Denaturing gradient gel electrophoresis (DGGE) and sequencing of the PAH locus has found 38 different mutations on 141 chromosomes in the PKU patients resident in Quebec; mutation analysis is now 92.5% complete. Two novel disease producing alleles (K421, R157N) and one silent allele (IVS6 nt-55) were discovered in this project; these mutations remain unique to the Quebec population. Three novel mutation-(haplotype) combinations were also found (S67P (H1), G218V (H2), V245A (H7)); they are not at hypermutable sites and are therefore compatible with a single homologous recombination event betwee

APA, Harvard, Vancouver, ISO, and other styles

24

Hejmanowski, Ashley Q. "Allelic and genetic heterogeneity of two common genetic diseases." The Ohio State University, 2004. http://rave.ohiolink.edu/etdc/view?acc_num=osu1095309751.

Full text

APA, Harvard, Vancouver, ISO, and other styles

25

Golegaonkar, Prashant G. "Genetic and molecular analysis of resistance to rust diseases in barley." University of Sydney, 2007. http://hdl.handle.net/2123/3549.

Full text

Abstract:

Doctor of Philosophy<br>The responses of 92 barley genotypes to selected P. hordei pathotypes was assessed in greenhouse tests at seedling growth stages and in the field at adult plant growth stages to determine known or unknown resistances. On the basis of multipathotype tests, 35 genotypes were postulated to carry Rph2, Rph4, Rph5, Rph12, RphCantala alone or combinations of Rph2 + Rph4 and Rph1 + Rph2, whereas 52 genotypes lacked detectable seedling resistance to P. hordei. Five genotypes carried seedling resistance that was effective to all pathotypes tested, of which four were believed to

APA, Harvard, Vancouver, ISO, and other styles

26

Wallis, Colin E. "Genetic disorders on the island of Mauritius." Master's thesis, University of Cape Town, 1988. http://hdl.handle.net/11427/26606.

Full text

Abstract:

Inherited disorders are an important cause of physical handicap, deafness, mental retardation and blindness. There is considerable variation in the geographic and ethnic distribution of genetic disease due to biological pressures and historical accidents. In this context the relative prevalence of common inherited disorders and the recognition of rare conditions in isolated communities is of great academic importance. Oceanic islands are of special significance in the study of inherited disease. Virtually nothing has been documented concerning genetic disorders on the Island of Mauritius with

APA, Harvard, Vancouver, ISO, and other styles

27

Jim, Jin-to, and 詹展韜. "Genetics and molecular characterization of degenerative disc disease." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B35720189.

Full text

APA, Harvard, Vancouver, ISO, and other styles

28

Walterman, Sarah K. "Genetic Testing Practices of Physicians for Primary Immunodeficiency Diseases." University of Cincinnati / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396532728.

Full text

APA, Harvard, Vancouver, ISO, and other styles

29

Katsumata, Yuriko. "STATISTICAL ANALYSES TO DETECT AND REFINE GENETIC ASSOCIATIONS WITH NEURODEGENERATIVE DISEASES." UKnowledge, 2017. https://uknowledge.uky.edu/epb_etds/17.

Full text

Abstract:

Dementia is a clinical state caused by neurodegeneration and characterized by a loss of function in cognitive domains and behavior. Alzheimer’s disease (AD) is the most common form of dementia. Although the amyloid β (Aβ) protein and hyperphosphorylated tau aggregates in the brain are considered to be the key pathological hallmarks of AD, the exact cause of AD is yet to be identified. In addition, clinical diagnoses of AD can be error prone. Many previous studies have compared the clinical diagnosis of AD against the gold standard of autopsy confirmation and shown substantial AD misdiagnosis H

APA, Harvard, Vancouver, ISO, and other styles

30

Cole, Stephen Douglas. "Genetic Diversity of the Pathogen Streptococcus parauberis Isolated from Bovine and Piscine Hosts." W&M ScholarWorks, 2011. https://scholarworks.wm.edu/etd/1539626906.

Full text

APA, Harvard, Vancouver, ISO, and other styles

31

Li, Yafang. "Genetic association analysis incorporating intermediate phenotypes information for complex diseases." Diss., University of Iowa, 2011. https://ir.uiowa.edu/etd/2739.

Full text

Abstract:

Genome-wide association (GWA) studies have been successfully applied in detection of susceptibility loci for complex diseases, but most of the identified variants have a large to moderate effect, and explain only a limited proportion of the heritability of the diseases. It is believed that the majority of the latent risk alleles have very small risk effects that are difficult to be identified and GWA study may have inadequate power in dealing with those small effect variants. Researchers will often collect other phenotypic information in addition to disease status to maximize the output from t

APA, Harvard, Vancouver, ISO, and other styles

32

Lim, Teng Ting. "Exploring the genetic landscape of complex diseases using the recessive model." Thesis, Harvard University, 2014. http://dissertations.umi.com/gsas.harvard:11490.

Full text

Abstract:

High-throughput sequencing technologies have changed the way we identify, study and understand the role of rare variation in Mendelian diseases. Sequencing in complex diseases have proven to be more challenging to interpret, but methods and approaches are being developed to aid in our understanding of variation in these diseases.

APA, Harvard, Vancouver, ISO, and other styles

33

Martin, Alison. "Genetics, immunoresponsiveness, and disease resistance in chickens." Diss., Virginia Polytechnic Institute and State University, 1989. http://hdl.handle.net/10919/54392.

Full text

Abstract:

The experiments reported in this dissertation explored the effects of selection for antibody response on other immunological measures and on production traits. The role of thyroid hormones in antibody response was also studied. Selection for high (HA) and low (LA) antibody response to sheep erythrocytes altered subclasses of antibodies in different ways. In line LA antibody response was primarily mercaptoethanol-susceptible (IgM), while the line HA response was primarily mercaptoethanol-resistant antibody (IgG). Sublines of HA and LA were developed with all possible combinations of major his

APA, Harvard, Vancouver, ISO, and other styles

34

Agenbag, Gloudi. "Molecular genetic analysis of familial breast cancer in South Africa." Thesis, Link to the online version, 2005. http://hdl.handle.net/10019/953.

Full text

APA, Harvard, Vancouver, ISO, and other styles

35

Verma, Deepti. "Genetic variations in the NALP3 inflammasome: a susceptibility factor for inflammatory diseases." Licentiate thesis, Linköping University, Linköping University, Department of Clinical and Experimental Medicine, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-19144.

Full text

Abstract:

<p>Innate immunity has received impressive attention in the past decade owing to the discovery of the Toll like receptors (TLRs) and the NOD-like receptors (NLRs). While the TLRs specialize in fighting microbes at the cell surface, the NLRs complement by detecting and responding to intracellular microbes. Recently, the non-microbe sensing NLR called inflammasomes, have been identified, which senses metabolic stress as well as certain pathogenic microbes and elicits host’s inflammatory response. <strong></strong></p><p>The NLR, NALP3 (formerly known as cryopyrin) forms a large cytoplasmic compl

APA, Harvard, Vancouver, ISO, and other styles

36

Iliadou, Anastasia. "Genetic epidemiological approaches to the study of risk factors for cardiovascular diseases /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-548-4.

Full text

APA, Harvard, Vancouver, ISO, and other styles

37

Fortune, Mary Doris. "Statistical techniques to fine map the related genetic aetiology of autoimmune diseases." Thesis, University of Cambridge, 2017. https://www.repository.cam.ac.uk/handle/1810/264764.

Full text

Abstract:

Genome Wide Association Studies (GWAS) have uncovered many genetic regions which are associated with autoimmune disease risk. In this thesis, I present methods which I have developed to build upon these studies and enable the analysis of the causal variants of these diseases. Colocalization methods disentangle whether potential causal variants are shared or distinct in related diseases, and enable the discovery of novel associations below the single-trait significance threshold. However, existing approaches require independent datasets to accomplish this. I extended two methods to allow for th

APA, Harvard, Vancouver, ISO, and other styles

38

Skarp, S. (Sini). "Whole exome sequencing in identifying genetic factors in musculoskeletal diseases." Doctoral thesis, Oulun yliopisto, 2019. http://urn.fi/urn:isbn:9789526223315.

Full text

Abstract:

Abstract Musculoskeletal diseases, such as osteoarthritis (OA), lumbar disc degeneration (LDD) and osteoporosis (OP), are common complex disorders affected by both environmental and genetic factors. OA and LDD are degenerative diseases affecting joints and spine and Modic changes (MC) are a specific phenotype of LDD. OP is a disorder causing bone fragility. There are families with a history of early onset cartilage degradation, disc disorders and bone fragility as well as rare, more severe disorders with these traits as part of the phenotype. The aim of this study was to identify predisposing

APA, Harvard, Vancouver, ISO, and other styles

39

Bianchi, Matteo. "Genetic Studies of Immunological Diseases in Dogs and Humans." Doctoral thesis, Uppsala universitet, Institutionen för medicinsk biokemi och mikrobiologi, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-319962.

Full text

Abstract:

This thesis presents genetic studies aiming at enlarging our knowledge regarding the genetic factors underlying two immune-mediated diseases, hypothyroidism and autoimmune Addison’s disease (AAD), in dogs and humans, respectively. Genetic and environmental factors are indicated to contribute to canine hypothyroidism, which can be considered a model for human Hashimoto’s thyroiditis (HT). In Paper I we performed the first genome-wide association (GWA) study of this disease in three high-risk dog breeds (Gordon Setter, Hovawart and Rhodesian Ridgeback). Using an integrated GWA and meta-analysis

APA, Harvard, Vancouver, ISO, and other styles

40

Ledmyr, Helena. "Molecular regulation of microsomal triglyceride transfer protein, MTP : functional genetic studies in relation to cardiovascular disease /." Stockholm, 2004. http://diss.kib.ki.se/2004/91-7140-142-3/.

Full text

APA, Harvard, Vancouver, ISO, and other styles

41

Aryamvally, Anjali. "Mitochondrial Replacement Therapy: Genetic Counselors’ Experiences, Knowledge and Opinions." University of Cincinnati / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1583998248123854.

Full text

APA, Harvard, Vancouver, ISO, and other styles

42

Litjens, Tom. "The molecular genetics of mucopolysaccharidosis type VI /." Title page, contents and abstract only, 1994. http://web4.library.adelaide.edu.au/theses/09PH/09phl776.pdf.

Full text

APA, Harvard, Vancouver, ISO, and other styles

43

Chan, Ying Leong. "Leveraging genetic association data to investigate the polygenic architecture of human traits and diseases." Thesis, Harvard University, 2014. http://dissertations.umi.com/gsas.harvard:11372.

Full text

Abstract:

Many human traits and diseases have a polygenic architecture, where phenotype is partially determined by variation in many genes. These complex traits or diseases can be highly heritable and genome-wide association studies (GWAS) have been relatively successful in the identification of associated variants. However, these variants typically do not account for most of the heritability and thus, the genetic architecture remains uncertain.

APA, Harvard, Vancouver, ISO, and other styles

44

Mells, George Frank Gannaway. "Investigation of the genetic basis of primary biliary cirrhosis : the PBC genetics study." Thesis, University of Cambridge, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.648610.

Full text

APA, Harvard, Vancouver, ISO, and other styles

45

Le, Roex Nikki. "Host genetic factors in susceptibility to mycobacterial disease in the African buffalo, Syncerus caffer." Thesis, Stellenbosch : Stellenbosch University, 2014. http://hdl.handle.net/10019.1/86750.

Full text

Abstract:

Thesis (PhD)--Stellenbosch University, 2014.<br>ENGLISH ABSTRACT: Bovine tuberculosis (BTB) is a chronic, infectious disease found in domestic livestock and wildlife, and has serious biodiversity, economic and public health implications. African buffalo act as a wildlife reservoir of BTB, maintaining and transmitting the disease within the environment. The research presented in this thesis addresses the role of host genetic variation in resistance to BTB infection in African buffalo, and reviews the possible practical application of such information. Annual BTB prevalence within the African bu

APA, Harvard, Vancouver, ISO, and other styles

46

Garrett, Michael R. "Genetic dissection of hypertension-related renal disease using the Dahl salt-sensitive rat." Connect to Online Resource-OhioLINK, 2006. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=mco1175545256.

Full text

Abstract:

Dissertation (Ph.D.)--University of Toledo, 2006.<br>"In partial fulfillment of the requirements for the degree of Doctor of Philosophy in Biomedical Sciences." Title from title page of PDF document. Bibliography: p. 89-95, p. 127-131, p. 184-192, p.198-233.

APA, Harvard, Vancouver, ISO, and other styles

47

Veikondis, Rene. "Genetic characterisation of fungal disease resistance genes in grapevine using molecular marker technology." Thesis, Stellenbosch : Stellenbosch University, 2014. http://hdl.handle.net/10019.1/96090.

Full text

Abstract:

Thesis (MSc)--Stellenbosch University, 2014.<br>ENGLISH ABSTRACT: The aim of this study on grapevine was to genetically characterise, validate and map the reported fungal disease resistance genes of Pölöskei Muskotály (PM), Kishmish Vatkana (KV) and Villard Blanc (VB) in South Africa using QTL analysis. These fungal resistant parents were crossed with other varieties that have desirable fruit qualities in an effort to combine fungal disease resistance with desirable fruit qualities in a single variety. The genetic basis of PM’s resistance to downy and powdery mildew has not been investigated b

APA, Harvard, Vancouver, ISO, and other styles

48

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

49

Katzov, Hagit. "Genetic association analysis of overlapping biological pathways in cardiovascular and Alzheimer disease /." Stockholm, 2006. http://diss.kib.ki.se/2006/91-7140-787-1/.

Full text

APA, Harvard, Vancouver, ISO, and other styles

50

Brooke, Matthew A. "The genetic and functional basis of three inherited cutaneous and gastrointestinal diseases in humans." Thesis, Queen Mary, University of London, 2014. http://qmro.qmul.ac.uk/xmlui/handle/123456789/7932.

Full text

Abstract:

This thesis describes investigations into the genetic basis and pathophysiology of three distinct inherited diseases in humans, two of which are strongly associated to the function of the ectodomain sheddase enzyme ADAM17. The first of these is a novel inherited syndrome of neonatal onset inflammatory skin and bowel disease, which is associated in a consanguineous family with homozygous loss-offunction mutations in ADAM17. This thesis describes investigations of the expression and function of ADAM17 – and downstream proteins it regulates – in an individual affected by this disease. This is acc

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!