subject:(linkage analysis)

North Carolina State University

1. Rowe, Christina Ella Marie. DNA Markers for Resistance to Post-Harvest Aflatoxin Accumulation in Arachis hypogaea L.

Degree: MS, Crop Science, 2009, North Carolina State University

URL: http://www.lib.ncsu.edu/resolver/1840.16/1533

► Aflatoxin contamination causes economic loss for the global peanut (Arachis hypogaea L.) industry and raises human and animal health concerns. Peanut genotypes with resistance to… (more)

Subjects/Keywords: linkage analysis

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APA (6^th Edition):

Rowe, C. E. M. (2009). DNA Markers for Resistance to Post-Harvest Aflatoxin Accumulation in Arachis hypogaea L. (Thesis). North Carolina State University. Retrieved from http://www.lib.ncsu.edu/resolver/1840.16/1533

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Rowe, Christina Ella Marie. “DNA Markers for Resistance to Post-Harvest Aflatoxin Accumulation in Arachis hypogaea L.” 2009. Thesis, North Carolina State University. Accessed February 28, 2021. http://www.lib.ncsu.edu/resolver/1840.16/1533.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Rowe, Christina Ella Marie. “DNA Markers for Resistance to Post-Harvest Aflatoxin Accumulation in Arachis hypogaea L.” 2009. Web. 28 Feb 2021.

Vancouver:

Rowe CEM. DNA Markers for Resistance to Post-Harvest Aflatoxin Accumulation in Arachis hypogaea L. [Internet] [Thesis]. North Carolina State University; 2009. [cited 2021 Feb 28]. Available from: http://www.lib.ncsu.edu/resolver/1840.16/1533.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Rowe CEM. DNA Markers for Resistance to Post-Harvest Aflatoxin Accumulation in Arachis hypogaea L. [Thesis]. North Carolina State University; 2009. Available from: http://www.lib.ncsu.edu/resolver/1840.16/1533

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Oulu

2. Kämäräinen, O.-P. (Olli-Pekka). The search for susceptibility genes in osteoarthritis.

Degree: 2009, University of Oulu

URL: http://urn.fi/urn:isbn:9789514291449

► Abstract This work engaged Finnish females affected with osteoarthritis (OA) of the hand to define the role of common sequence variations within the genes of… (more)

▼ Abstract This work engaged Finnish females affected with osteoarthritis (OA) of the hand to define the role of common sequence variations within the genes of the important structural protein of cartilage, aggrecan (AGC1), and the genes of inflammatory mediators, the interleukin 1 gene cluster and interleukin 6 (IL6), as possible risk factors for the disease. Also, a genome-wide linkage analysis was performed in a sample consisting of Finnish families with multiple individuals affected with hip and knee OA in order to reveal new chromosomal areas that are likely to contain disease associated variations. OA is a chronic disease that leads to the degeneration of articular cartilage in synovial joints. The etiology of the disease is for the most part unknown. Joints of the hand, hip and knee are most commonly affected, and obesity, trauma and excess mechanical stress are known risk factors for the disease. OA also has a significant genetic component. AGC1 carries a variable number of tandem repeats (VNTR) polymorphism, which may be significant for the biomechanical properties of cartilage. It was shown that the most common allele with 27 tandem repeats is protective against hand OA (HOA) (odds ratio 0.46, 95% confidence interval 0.27–0.78). Also, carrying two copies of any of the shorter or longer alleles increased the risk of the disease. Inflammation seems to play a role in the etiology of OA and certain polymorphisms within the interleukin 1 gene cluster and IL6 have been previously shown to increase the transcription of these molecules and to associate with OA. In this study it was shown that the G alleles in three common IL6 promoter single nucleotide polymorphism (SNP) sites are associated with the risk of more severe forms of HOA (p = 0.001 for GGG haplotype). A SNP in IL1B associated with the bilateral form of the disease (p = 0.006) and two IL1B-IL1RN extended haplotype alleles were associated with the same phenotype. Genome-wide and fine mapping linkage analyses recognized chromosomal locus 2q21 with a multipoint LOD score of 3.96. Despite the association analyses of several candidate genes within the locus, no disease-associating sequence variants were identified.

Subjects/Keywords: Osteoarthritis - genetics; inflammation; linkage analysis

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APA (6^th Edition):

Kämäräinen, O. -. (. (2009). The search for susceptibility genes in osteoarthritis. (Doctoral Dissertation). University of Oulu. Retrieved from http://urn.fi/urn:isbn:9789514291449

Chicago Manual of Style (16^th Edition):

Kämäräinen, O -P (Olli-Pekka). “The search for susceptibility genes in osteoarthritis.” 2009. Doctoral Dissertation, University of Oulu. Accessed February 28, 2021. http://urn.fi/urn:isbn:9789514291449.

MLA Handbook (7^th Edition):

Kämäräinen, O -P (Olli-Pekka). “The search for susceptibility genes in osteoarthritis.” 2009. Web. 28 Feb 2021.

Vancouver:

Kämäräinen O-(. The search for susceptibility genes in osteoarthritis. [Internet] [Doctoral dissertation]. University of Oulu; 2009. [cited 2021 Feb 28]. Available from: http://urn.fi/urn:isbn:9789514291449.

Council of Science Editors:

Kämäräinen O-(. The search for susceptibility genes in osteoarthritis. [Doctoral Dissertation]. University of Oulu; 2009. Available from: http://urn.fi/urn:isbn:9789514291449

University of Tasmania

3. Graham, PS. Identifying glaucoma susceptibility genes in extended families.

Degree: 2020, University of Tasmania

URL: https://eprints.utas.edu.au/34977/1/Graham_whole_thesis.pdf ; Graham, PS ORCID: 0000-0002-8317-510X <https://orcid.org/0000-0002-8317-510X> 2020 , 'Identifying glaucoma susceptibility genes in extended families', PhD thesis, University of Tasmania.

► Glaucoma encompasses a heterogenous group of eye diseases and is the leading cause of irreversible blindness worldwide. Death of retinal ganglion cells causes degeneration of… (more)

▼ Glaucoma encompasses a heterogenous group of eye diseases and is the leading cause of irreversible blindness worldwide. Death of retinal ganglion cells causes degeneration of the optic nerve with resultant loss in vision. Primary open-angle glaucoma (POAG) is the most common form of glaucoma. An increase in pressure inside the eye, the intraocular pressure (IOP), is the main risk factor for developing POAG. Pressure reducing medication and surgery are currently the only preventative measures, and means of slowing the progression of the disease, available to those at risk of POAG or already diagnosed with this disease. There is currently no cure for glaucoma. POAG is a highly heritable, complex disease. Genome-wide association studies (GWAS) have identified many common risk variants, each with small effect sizes, which may increase an individual’s susceptibility to developing this disease. However, these variants together only account for around 3% of the heritability of POAG. Rare variants have been proposed as a source of the missing heritability, and the most powerful way to enrich for rare variants is through family studies. Linkage studies have identified genes harbouring rare variants which cause the disease in around 10% of cases. It is proposed that other, unidentified rare variants with large effect sizes, may be important in POAG pathogenesis. The clinical intermediate traits of POAG that have been used for successful genetic studies include IOP, vertical cup to disc ratio (VCDR) and central corneal thickness (CCT). These highly heritable, quantitative traits are measurable in all individuals, regardless of their POAG disease status. IOP and VCDR are significantly genetically correlated with POAG disease status, making them ideal endophenotypes to use to identify variants and genes involved with POAG pathogenesis. CCT is not significantly genetically correlated with POAG, but is a well-recognised risk factor for the disease, with thinner corneas associated with an increased risk of developing POAG. Identifying genes important in corneal development still gives us the opportunity to better understand the risk of developing POAG. GWAS have been very successful in identifying variants associated with each of these clinical intermediate traits, however, only a small proportion of the overall heritability for each trait is accounted for by these variants. For this study, we hypothesised that rare genetic variants associated with heritable ocular clinical traits could be identified in extended pedigrees and would improve our understanding of the genetic susceptibility to POAG. The first aim of this study was to determine the contribution of published genetic loci associated with POAG and related traits, to the trait variance of the clinical phenotypes in five extended POAG enriched families. The next aim was to use linkage analysis to identify regions harbouring potential POAG related risk variants in these five families. The final aim was to use in silico tools to investigate genetic variants within the most…

Subjects/Keywords: glaucoma; genetics; linkage analysis; bioinformatics

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APA (6^th Edition):

Graham, P. (2020). Identifying glaucoma susceptibility genes in extended families. (Thesis). University of Tasmania. Retrieved from https://eprints.utas.edu.au/34977/1/Graham_whole_thesis.pdf ; Graham, PS ORCID: 0000-0002-8317-510X <https://orcid.org/0000-0002-8317-510X> 2020 , 'Identifying glaucoma susceptibility genes in extended families', PhD thesis, University of Tasmania.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Graham, PS. “Identifying glaucoma susceptibility genes in extended families.” 2020. Thesis, University of Tasmania. Accessed February 28, 2021. https://eprints.utas.edu.au/34977/1/Graham_whole_thesis.pdf ; Graham, PS ORCID: 0000-0002-8317-510X <https://orcid.org/0000-0002-8317-510X> 2020 , 'Identifying glaucoma susceptibility genes in extended families', PhD thesis, University of Tasmania..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Graham, PS. “Identifying glaucoma susceptibility genes in extended families.” 2020. Web. 28 Feb 2021.

Vancouver:

Graham P. Identifying glaucoma susceptibility genes in extended families. [Internet] [Thesis]. University of Tasmania; 2020. [cited 2021 Feb 28]. Available from: https://eprints.utas.edu.au/34977/1/Graham_whole_thesis.pdf ; Graham, PS ORCID: 0000-0002-8317-510X <https://orcid.org/0000-0002-8317-510X> 2020 , 'Identifying glaucoma susceptibility genes in extended families', PhD thesis, University of Tasmania..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Graham P. Identifying glaucoma susceptibility genes in extended families. [Thesis]. University of Tasmania; 2020. Available from: https://eprints.utas.edu.au/34977/1/Graham_whole_thesis.pdf ; Graham, PS ORCID: 0000-0002-8317-510X <https://orcid.org/0000-0002-8317-510X> 2020 , 'Identifying glaucoma susceptibility genes in extended families', PhD thesis, University of Tasmania.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of New South Wales

4. Nguyen, Sing. Family-based genetic analysis of osteoporosis.

Degree: Garvan Institute of Medical Research, 2014, University of New South Wales

URL: http://handle.unsw.edu.au/1959.4/54670 ; https://unsworks.unsw.edu.au/fapi/datastream/unsworks:35541/SOURCE02?view=true

► Osteoporosis is a common disease affecting a significant proportion of older people. Its primary endpoint, fracture,results in severe outcomes including increased morbidity and early mortality.… (more)

Subjects/Keywords: Linkage analysis; Genetics; Osteoporosis

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APA (6^th Edition):

Nguyen, S. (2014). Family-based genetic analysis of osteoporosis. (Doctoral Dissertation). University of New South Wales. Retrieved from http://handle.unsw.edu.au/1959.4/54670 ; https://unsworks.unsw.edu.au/fapi/datastream/unsworks:35541/SOURCE02?view=true

Chicago Manual of Style (16^th Edition):

Nguyen, Sing. “Family-based genetic analysis of osteoporosis.” 2014. Doctoral Dissertation, University of New South Wales. Accessed February 28, 2021. http://handle.unsw.edu.au/1959.4/54670 ; https://unsworks.unsw.edu.au/fapi/datastream/unsworks:35541/SOURCE02?view=true.

MLA Handbook (7^th Edition):

Nguyen, Sing. “Family-based genetic analysis of osteoporosis.” 2014. Web. 28 Feb 2021.

Vancouver:

Nguyen S. Family-based genetic analysis of osteoporosis. [Internet] [Doctoral dissertation]. University of New South Wales; 2014. [cited 2021 Feb 28]. Available from: http://handle.unsw.edu.au/1959.4/54670 ; https://unsworks.unsw.edu.au/fapi/datastream/unsworks:35541/SOURCE02?view=true.

Council of Science Editors:

Nguyen S. Family-based genetic analysis of osteoporosis. [Doctoral Dissertation]. University of New South Wales; 2014. Available from: http://handle.unsw.edu.au/1959.4/54670 ; https://unsworks.unsw.edu.au/fapi/datastream/unsworks:35541/SOURCE02?view=true

Australian National University

5. Johar, Angad Singh. Candidate Sequence Variants for Polyautoimmunity and Multiple Autoimmune Syndrome from a Colombian Genetic Isolate: Implications for Population Genetics .

Degree: 2018, Australian National University

URL: http://hdl.handle.net/1885/148841

► Autoimmunity is an immunological disorder whereby patients have lost immunological tolerance to self-antigen. It has extreme financial and socioeconomic burden with costs of over 100… (more)

▼ Autoimmunity is an immunological disorder whereby patients have lost immunological tolerance to self-antigen. It has extreme financial and socioeconomic burden with costs of over 100 billion dollars in the USA alone, and an estimated prevalence of 9.4%, and evidence indicates that this estimate has increased at a rate of 5% per year for the past 3 years. These phenotypes can be manifested in more severe forms through polyautoimmunity, whereby patients are carrying 2 or more autoimmune conditions. In addition to that, there is also the most extreme phenotype of autoimmunity known as the Multiple Autoimmune Syndrome (MAS), consisting of cases where patients have 3 or more autoimmune diseases. These extreme phenotypes are extremely important for genetic research as will be elaborated upon in this thesis. For more than 20 years, pedigrees from the world’s largest known genetic isolate, from the Paisa region of Colombia have been ascertained and thoroughly followed by Dr. Juan-Manuel Anaya and Dr. Mauricio Arcos-Burgos. This population has maintained its status as a genetic isolate since the 16th century, during the early colonization by the Spanish Conquistadors. In this thesis, our attempts in identifying potential candidate variants potentially underpinning the genetic etiology of autoimmune conditions in this population is facilitated by the fact that families are derived from individuals carrying extreme phenotypes, from familial cohorts where genetic homogeneity is maximized. Candidates are identified in both sporadic as well as familial cases. This is primarily achieved through combination of linkage analysis and association tests for both rare and common variants, derived from variant-calling pipelines and that had undergone quality control, filtering and functional annotation, via bioinformatic anlayses. Genes harbouring variants with significant evidence of linkage and association were primarily involved in negative regulation of apoptosis, phagocytosis, regulation of endopeptidase activity, response to lipopolysaccharides and plasminogen urokinase receptor activity. These findings, that were obtained by utilizing the combinations of statistical as well as network-based analyses have relevant potential implications in autoimmunity, and can be further supported with additional studies.

Subjects/Keywords: Autoimmunity; Genetic Isolates; Linkage Analysis; Extreme Phenotypes; Families; Paisa; Rare Variants; Linkage Disequilibrium; Founder Effects

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APA (6^th Edition):

Johar, A. S. (2018). Candidate Sequence Variants for Polyautoimmunity and Multiple Autoimmune Syndrome from a Colombian Genetic Isolate: Implications for Population Genetics . (Thesis). Australian National University. Retrieved from http://hdl.handle.net/1885/148841

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Johar, Angad Singh. “Candidate Sequence Variants for Polyautoimmunity and Multiple Autoimmune Syndrome from a Colombian Genetic Isolate: Implications for Population Genetics .” 2018. Thesis, Australian National University. Accessed February 28, 2021. http://hdl.handle.net/1885/148841.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Johar, Angad Singh. “Candidate Sequence Variants for Polyautoimmunity and Multiple Autoimmune Syndrome from a Colombian Genetic Isolate: Implications for Population Genetics .” 2018. Web. 28 Feb 2021.

Vancouver:

Johar AS. Candidate Sequence Variants for Polyautoimmunity and Multiple Autoimmune Syndrome from a Colombian Genetic Isolate: Implications for Population Genetics . [Internet] [Thesis]. Australian National University; 2018. [cited 2021 Feb 28]. Available from: http://hdl.handle.net/1885/148841.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Johar AS. Candidate Sequence Variants for Polyautoimmunity and Multiple Autoimmune Syndrome from a Colombian Genetic Isolate: Implications for Population Genetics . [Thesis]. Australian National University; 2018. Available from: http://hdl.handle.net/1885/148841

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Kansas

6. Andres, Erin M. Mapping Chromosomal Loci in Specific Language Impairment: A Pedigree-Focused Approach.

Degree: MA, Child Language, 2018, University of Kansas

URL: http://hdl.handle.net/1808/27806

► Specific language impairment (SLI) is characterized by a delay in the mastery of language despite average or above average nonverbal intelligence (IQ). There are multiple… (more)

Subjects/Keywords: Genetics; Language; genetic linkage; language phenotypes; linkage analysis; pedigree; reading phenotypes; specific language impairment

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APA (6^th Edition):

Andres, E. M. (2018). Mapping Chromosomal Loci in Specific Language Impairment: A Pedigree-Focused Approach. (Masters Thesis). University of Kansas. Retrieved from http://hdl.handle.net/1808/27806

Chicago Manual of Style (16^th Edition):

Andres, Erin M. “Mapping Chromosomal Loci in Specific Language Impairment: A Pedigree-Focused Approach.” 2018. Masters Thesis, University of Kansas. Accessed February 28, 2021. http://hdl.handle.net/1808/27806.

MLA Handbook (7^th Edition):

Andres, Erin M. “Mapping Chromosomal Loci in Specific Language Impairment: A Pedigree-Focused Approach.” 2018. Web. 28 Feb 2021.

Vancouver:

Andres EM. Mapping Chromosomal Loci in Specific Language Impairment: A Pedigree-Focused Approach. [Internet] [Masters thesis]. University of Kansas; 2018. [cited 2021 Feb 28]. Available from: http://hdl.handle.net/1808/27806.

Council of Science Editors:

Andres EM. Mapping Chromosomal Loci in Specific Language Impairment: A Pedigree-Focused Approach. [Masters Thesis]. University of Kansas; 2018. Available from: http://hdl.handle.net/1808/27806

Vanderbilt University

7. Hoffman, Joshua David. Modeling Macular Degeneration Using Quantitative Phenotypes.

Degree: PhD, Human Genetics, 2015, Vanderbilt University

URL: http://hdl.handle.net/1803/10680

► Age-related macular degeneration (AMD) is one of the most common causes of visual impairment in the United States (US). Although a multitude of studies have… (more)

Subjects/Keywords: AMD; genetics; Age-Related Macular Degeneration; genomics; assocation analysis; linkage analysis

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APA (6^th Edition):

Hoffman, J. D. (2015). Modeling Macular Degeneration Using Quantitative Phenotypes. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/10680

Chicago Manual of Style (16^th Edition):

Hoffman, Joshua David. “Modeling Macular Degeneration Using Quantitative Phenotypes.” 2015. Doctoral Dissertation, Vanderbilt University. Accessed February 28, 2021. http://hdl.handle.net/1803/10680.

MLA Handbook (7^th Edition):

Hoffman, Joshua David. “Modeling Macular Degeneration Using Quantitative Phenotypes.” 2015. Web. 28 Feb 2021.

Vancouver:

Hoffman JD. Modeling Macular Degeneration Using Quantitative Phenotypes. [Internet] [Doctoral dissertation]. Vanderbilt University; 2015. [cited 2021 Feb 28]. Available from: http://hdl.handle.net/1803/10680.

Council of Science Editors:

Hoffman JD. Modeling Macular Degeneration Using Quantitative Phenotypes. [Doctoral Dissertation]. Vanderbilt University; 2015. Available from: http://hdl.handle.net/1803/10680

8. Machado, Lucia Valeria da Silva Teixeira. Análise de ligação na síndrome de Marfan.

Degree: PhD, Biotecnologia, 2009, University of São Paulo

URL: http://www.teses.usp.br/teses/disponiveis/87/87131/tde-30042010-084608/ ;

►

A síndrome de Marfan (MFS) é uma doença autossômica dominante do tecido conjuntivo que afeta o coração, vasos sanguíneos, pulmões, olhos, ossos e os ligamentos.… (more)

▼

A síndrome de Marfan (MFS) é uma doença autossômica dominante do tecido conjuntivo que afeta o coração, vasos sanguíneos, pulmões, olhos, ossos e os ligamentos. Mutações no gene codificante da fibrilina 1 (FBN1) causam a síndrome de Marfan e doenças relacionadas do tecido conjuntivo. Fibrilina 1 é o componente principal das microfibrilas de 10-12nm encontradas na matriz extracelular (ECM). A ECM tem um papel estrutural na organização específica do tecido e participa na regulação de várias citocinas e fatores de crescimento. Uma quantidade crescente de evidências demonstra um relacionamento entre fibrilina 1 e o receptor do fator de transformação do crescimento (TGF-). A Homologia entre fibrilina 1 e TGF- latente (LTGF) permite que os microfibrilas sirvam de reservatório para esta citocina. Recentemente foram descritos nos pacientes com MFS, mutações nos genes receptores I e II do TGF- (TGFBRI/II). O objetivo deste estudo foi analisar a heterogeneidade genética da síndrome de Marfan. Nós realizamos análises de ligação para 6 marcadores dos gene FBN1 e TGFBRII em 34 famílias e sequenciamos o TGFBRI e TGFBRII. A análise de ligação dos haplótipos em relação aos marcadores do gene FBN1 indicou co-segregação em 70,58%, exclusão em 17,64% e homozigozidade em 11,76%; em relação aos marcadores do gene TGFBRII indicou co-segregação em uma família. Conseguimos demonstrar a heterogeneidade de lócus e a utilidade do teste diagnóstico na assistência das famílias pré-sintomáticas com manifestações atípicas ou ambíguas da MFS.

Marfan syndrome is an autosomal dominant disorder of connective tissue that can affect the heart, blood vessels, lungs, eyes, bones, and ligaments. Mutations in the gene encoding fibrillin 1 (FBN1) cause Marfan syndrome (MFS), and related connective tissue disorders. Fibrillin-1 is the main component of the 10-12 nm microfibrils found in the extracellular matrix (ECM). ECM displays a structural role in the tissue-specific organization and takes part in the regulation of various cytokines and growth factors. A growing body of evidence supports a narrow relationship between fibrillin 1 and TGF-beta. Homology between fibrillin 1 and latent TGF-beta (LTGF) allows microfibrils to be a reservoir for this cytokine. Recently, mutations in the gene for transforming growth factor-beta (TGF-) receptor type I and II (TGFBRI/II) have been described in patients with MFS. The aim of this study was to analyze the genetic heterogeneity of Marfan syndrome. We have performed linkage analysis for 6 FBN1 and TGFBRII gene markers in 34 families and sequenced both TGFBRI and TGFBRII. The haplotype linkage analysis concerning the FBN1 gene markers indicated co-segregation at 70.58%, exclusion at 17.64% and homozygosity at 11.76%; in relation to the TGFBRII gene markers, it indicated co-segregation in one family. We were able to demonstrate the heterogeneity of locus and the utility of the diagnostic test in the assistance of the daily pre-symptomatic families with atypical or ambiguous manifestations of MFS.

Advisors/Committee Members: Carramaschi, Lygia da Veiga Pereira.

Subjects/Keywords: Análise de ligação; Genetic heterogenety; Heterogeneidade genética; Linkage analysis; Marfan; Marfan

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APA (6^th Edition):

Machado, L. V. d. S. T. (2009). Análise de ligação na síndrome de Marfan. (Doctoral Dissertation). University of São Paulo. Retrieved from http://www.teses.usp.br/teses/disponiveis/87/87131/tde-30042010-084608/ ;

Chicago Manual of Style (16^th Edition):

Machado, Lucia Valeria da Silva Teixeira. “Análise de ligação na síndrome de Marfan.” 2009. Doctoral Dissertation, University of São Paulo. Accessed February 28, 2021. http://www.teses.usp.br/teses/disponiveis/87/87131/tde-30042010-084608/ ;.

MLA Handbook (7^th Edition):

Machado, Lucia Valeria da Silva Teixeira. “Análise de ligação na síndrome de Marfan.” 2009. Web. 28 Feb 2021.

Vancouver:

Machado LVdST. Análise de ligação na síndrome de Marfan. [Internet] [Doctoral dissertation]. University of São Paulo; 2009. [cited 2021 Feb 28]. Available from: http://www.teses.usp.br/teses/disponiveis/87/87131/tde-30042010-084608/ ;.

Council of Science Editors:

Machado LVdST. Análise de ligação na síndrome de Marfan. [Doctoral Dissertation]. University of São Paulo; 2009. Available from: http://www.teses.usp.br/teses/disponiveis/87/87131/tde-30042010-084608/ ;

University of Guelph

9. Khanal, Raja. Trait Variation and QTL Mapping in Early-Season Maize Populations.

Degree: PhD, Department of Plant Agriculture, 2011, University of Guelph

URL: https://atrium.lib.uoguelph.ca/xmlui/handle/10214/3089

► Maize (Zea mays L.) inbred lines for hybrid breeding are usually developed within distinct heterotic groups. Breeders impose strong selection and maintain relatively small population… (more)

▼ Maize (Zea mays L.) inbred lines for hybrid breeding are usually developed within distinct heterotic groups. Breeders impose strong selection and maintain relatively small population sizes that are adapted to local environments, where the aim is to identify the desired recombinant types in the progeny. However, linkages between loci that control a trait may not permit breeders to obtain the desirable genetic recombination in these populations. It is hypothesized that different favorable and unfavorable alleles accumulate within the lines from different heterotic groups. In addition, within each inbred line, favourable alleles are linked with unfavourable alleles. Two early-season maize inbreds, CG60 (Iodent) and CG102 (Stiff Stalk), were used to develop a selfed recombinant inbred line (SRIL) and an intermated recombinant inbred line (IRIL) populations. Furthermore, individuals from within these populations were testcrossed with an inbred tester from the Lancaster Sure Crop heterotic group, to give rise to selfed SRIL testcross (SRIL-TC) and IRIL testcross (IRIL-TC) populations. The inbred and inbred-testcross populations were evaluated for trait variation and QTL mapping. The genetic variance was high in inbred populations (SRIL and IRIL) with transgressive segregation for flowering time and agronomic traits. However, genetic variances and correlation coefficients did not significantly differ between the inbred populations. Results suggested that pleiotropic genes were prevalent for these traits. In addition, linkages between the loci that control these traits were not common within parental genomes. Genetic linkage maps developed from the IRIL population were larger than those of the SRIL population. In the inbred-testcross populations (SRIL-TC and IRIL-TC) high means and high levels of trait variation were observed for all traits. The genetic variances and correlation coefficients of hybrid traits did not significantly differ between the SRIL-TC and IRIL-TC populations. Twenty five significant small to moderate QTL were detected, but only one, for grain moisture, was shared between inbred-testcross populations. Overall, the two inbred parents from different heterotic groups have many distinct alleles that contribute to traits. The recombinant inbred line populations had high means and variances for grain yield and related traits, which opens the possibility of utilizing these lines for hybrid breeding. Advisors/Committee Members: Lukens, Lewis (advisor).

Subjects/Keywords: Quantitative genetics; Linkage mapping; QTL analysis; Trait variation; Maize

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APA (6^th Edition):

Khanal, R. (2011). Trait Variation and QTL Mapping in Early-Season Maize Populations. (Doctoral Dissertation). University of Guelph. Retrieved from https://atrium.lib.uoguelph.ca/xmlui/handle/10214/3089

Chicago Manual of Style (16^th Edition):

Khanal, Raja. “Trait Variation and QTL Mapping in Early-Season Maize Populations.” 2011. Doctoral Dissertation, University of Guelph. Accessed February 28, 2021. https://atrium.lib.uoguelph.ca/xmlui/handle/10214/3089.

MLA Handbook (7^th Edition):

Khanal, Raja. “Trait Variation and QTL Mapping in Early-Season Maize Populations.” 2011. Web. 28 Feb 2021.

Vancouver:

Khanal R. Trait Variation and QTL Mapping in Early-Season Maize Populations. [Internet] [Doctoral dissertation]. University of Guelph; 2011. [cited 2021 Feb 28]. Available from: https://atrium.lib.uoguelph.ca/xmlui/handle/10214/3089.

Council of Science Editors:

Khanal R. Trait Variation and QTL Mapping in Early-Season Maize Populations. [Doctoral Dissertation]. University of Guelph; 2011. Available from: https://atrium.lib.uoguelph.ca/xmlui/handle/10214/3089

University of Leicester

10. Tonkin, Matthew James. Behavioural case linkage : generalisability, ecological validity, and methodology.

Degree: PhD, 2012, University of Leicester

URL: https://figshare.com/articles/Behavioural_Case_Linkage_Generalisability_Ecological_Validity_and_Methodology/10120073 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.561133

► Behavioural case linkage (BCL) is a procedure that can be used to identify linked crime series, which contain two or more crimes committed by the… (more)

▼ Behavioural case linkage (BCL) is a procedure that can be used to identify linked crime series, which contain two or more crimes committed by the same person, thereby helping the police to detect and prosecute repeat offenders who are responsible for a disproportionate amount of crime. However, despite the potential benefits of BCL, there are also damaging consequences if crimes are incorrectly linked. Consequently, research has started to test if and how this procedure can work in the most efficient and reliable way. But, the extant literature has a number of important limitations, particularly in terms of (1) generalisability (i.e., there have been few attempts to replicate findings across geographical locations and time periods), (2) ecological validity (i.e., the methodology used to test BCL is not representative of how the procedure is used in practice), and (3) methodology (i.e., there is a lack of research to systematically compare the various methodological/statistical approaches to BCL). The primary aim of this thesis was to address these three important limitations. In terms of generalisability, this thesis has tested the extent to which previous BCL research on residential burglary, commercial robbery, and car theft can be replicated in new geographical locations and time periods. In terms of ecological validity, a number of new methodologies have been developed and tested that reduce the gap between research and practice in BCL by allowing both non-serial and unsolved offences (as well as solved, serial offences) to be included when testing the principles of BCL, and also for these principles to be tested with crime series that contain several different types of offence. In terms of methodology, novel methodological approaches have been compared with the ‘traditional’, status quo methodology for researching the BCL principles, thereby ensuring that the findings reported in this thesis can be compared with previous work. This thesis, therefore, has important implications for theory, research, and practice and the findings are discussed in the context of these. Future research directions are also outlined.

Subjects/Keywords: 364; serial crime; crime linkage; comparative case analysis; offender behaviour

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APA (6^th Edition):

Tonkin, M. J. (2012). Behavioural case linkage : generalisability, ecological validity, and methodology. (Doctoral Dissertation). University of Leicester. Retrieved from https://figshare.com/articles/Behavioural_Case_Linkage_Generalisability_Ecological_Validity_and_Methodology/10120073 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.561133

Chicago Manual of Style (16^th Edition):

Tonkin, Matthew James. “Behavioural case linkage : generalisability, ecological validity, and methodology.” 2012. Doctoral Dissertation, University of Leicester. Accessed February 28, 2021. https://figshare.com/articles/Behavioural_Case_Linkage_Generalisability_Ecological_Validity_and_Methodology/10120073 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.561133.

MLA Handbook (7^th Edition):

Tonkin, Matthew James. “Behavioural case linkage : generalisability, ecological validity, and methodology.” 2012. Web. 28 Feb 2021.

Vancouver:

Tonkin MJ. Behavioural case linkage : generalisability, ecological validity, and methodology. [Internet] [Doctoral dissertation]. University of Leicester; 2012. [cited 2021 Feb 28]. Available from: https://figshare.com/articles/Behavioural_Case_Linkage_Generalisability_Ecological_Validity_and_Methodology/10120073 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.561133.

Council of Science Editors:

Tonkin MJ. Behavioural case linkage : generalisability, ecological validity, and methodology. [Doctoral Dissertation]. University of Leicester; 2012. Available from: https://figshare.com/articles/Behavioural_Case_Linkage_Generalisability_Ecological_Validity_and_Methodology/10120073 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.561133

University of Tasmania

11. Jones, JL. Identifying the genetic causes of paediatric cataract in Australian families.

Degree: 2020, University of Tasmania

URL: https://eprints.utas.edu.au/35055/1/Jones_whole_thesis.pdf ; Jones, JL ORCID: 0000-0002-6475-9134 <https://orcid.org/0000-0002-6475-9134> 2020 , 'Identifying the genetic causes of paediatric cataract in Australian families', PhD thesis, University of Tasmania.

► Cataracts are a clouding of the normally transparent lens of the eye. They result in varying degrees of visual impairment due to light scattering that… (more)

▼ Cataracts are a clouding of the normally transparent lens of the eye. They result in varying degrees of visual impairment due to light scattering that occurs as light passes across the cataract affected lens. Paediatric cataracts can be present at birth (congenital) or develop anytime through childhood up to the late teenage years. Paediatric cataract has an estimated prevalence of 2.2-13.6 per 10,000 births worldwide and approximately one in four cases has a genetic basis to their disease. Inherited paediatric cataracts can occur as an isolated phenotype, in combination with other ocular features or as part of a syndrome. To date, over 50 genes and loci have been linked to isolated paediatric cataracts and over 200 have been linked to syndromic forms. Studying the genetic causes of paediatric cataracts will enable a better understanding of the molecular mechanisms that underpin a healthy lens and in doing so, create opportunities to improve preventive care and treatment options for all cataract cases. The identification of new genes and mutations will improve molecular diagnostic rates, with current known genes accounting for only 60-70% of familial cases. The overarching aim of this project is to identify the genetic basis of disease in unsolved families from Australia’s largest repository of paediatric cataract DNA samples. This aim was achieved through three complementary studies: a gene screen of known isolated paediatric cataract genes; novel gene discovery using a combination of linkage analysis and massively parallel sequencing; and extended investigation of variant pathogenicity using in vitro and in vivo methodologies. The gene screen aimed to identify putative disease-causing variants in known genes, to provide a molecular diagnosis for numerous families, and investigate variants impacting non-coding regions of known genes. Thirty-three families were investigated, containing one to seven individuals with DNA available and a maximum of four affected cases. Whole genome sequencing (WGS) was performed on one affected individual in each family. Rare (MAF ≤0.01) and predicted pathogenic SNPs and indels were filtered from the coding and non-coding regions of 50 isolated congenital cataract genes. Sanger sequencing was used to assess variant segregation in the family. Positive control families CSA182 and CSA196 had their respective known coding BFSP1 c.1124delA and non-coding FLT c.-168G>T variants identified, confirming the effectiveness of filtering parameters used. Segregating coding variants were observed in 29% (9/31) of families, with 89% (8/9) of those classed as pathogenic or likely pathogenic. Five of these variants were identified in connexin genes GJA3 and GJA8, a recurrent variant was observed in CRYAA, and variants in COL4A1 and LEMD2 are likely to be disease causing and may cause additional pathologies. Incomplete penetrance was identified for coding variants in six families, with variants in the BFSP2 (CQLD130) and MIP (CRCH4) genes strong candidates. Additionally, variants in CRYBB1 (CTAS34) and…

Subjects/Keywords: Paediatric cataract; congenital cataract; PGRMC1; NHS; whole genome sequencing; linkage analysis

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APA (6^th Edition):

Jones, J. (2020). Identifying the genetic causes of paediatric cataract in Australian families. (Thesis). University of Tasmania. Retrieved from https://eprints.utas.edu.au/35055/1/Jones_whole_thesis.pdf ; Jones, JL ORCID: 0000-0002-6475-9134 <https://orcid.org/0000-0002-6475-9134> 2020 , 'Identifying the genetic causes of paediatric cataract in Australian families', PhD thesis, University of Tasmania.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Jones, JL. “Identifying the genetic causes of paediatric cataract in Australian families.” 2020. Thesis, University of Tasmania. Accessed February 28, 2021. https://eprints.utas.edu.au/35055/1/Jones_whole_thesis.pdf ; Jones, JL ORCID: 0000-0002-6475-9134 <https://orcid.org/0000-0002-6475-9134> 2020 , 'Identifying the genetic causes of paediatric cataract in Australian families', PhD thesis, University of Tasmania..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Jones, JL. “Identifying the genetic causes of paediatric cataract in Australian families.” 2020. Web. 28 Feb 2021.

Vancouver:

Jones J. Identifying the genetic causes of paediatric cataract in Australian families. [Internet] [Thesis]. University of Tasmania; 2020. [cited 2021 Feb 28]. Available from: https://eprints.utas.edu.au/35055/1/Jones_whole_thesis.pdf ; Jones, JL ORCID: 0000-0002-6475-9134 <https://orcid.org/0000-0002-6475-9134> 2020 , 'Identifying the genetic causes of paediatric cataract in Australian families', PhD thesis, University of Tasmania..

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Jones J. Identifying the genetic causes of paediatric cataract in Australian families. [Thesis]. University of Tasmania; 2020. Available from: https://eprints.utas.edu.au/35055/1/Jones_whole_thesis.pdf ; Jones, JL ORCID: 0000-0002-6475-9134 <https://orcid.org/0000-0002-6475-9134> 2020 , 'Identifying the genetic causes of paediatric cataract in Australian families', PhD thesis, University of Tasmania.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Melbourne

12. Smith, Katherine Rose. Identifying inherited disease-causing mutations using massively parallel sequencing.

Degree: 2014, University of Melbourne

URL: http://hdl.handle.net/11343/42055

► Massively parallel sequencing (MPS) technology has accelerated the rate at which mutations causing inherited Mendelian disorders are identified. In particular, whole-exome sequencing (WES) has been… (more)

▼ Massively parallel sequencing (MPS) technology has accelerated the rate at which mutations causing inherited Mendelian disorders are identified. In particular, whole-exome sequencing (WES) has been widely adopted as a cost-effective method to detect genetic variants within a patient’s exons. Hundreds of thousands of variants are typically detected per sample, of which only one or two are expected to cause the phenotype of interest. Researchers typically reduce these to a smaller number of candidate mutations by retaining rare variants that are predicted to affect protein sequence and whose genotypes fit a hypothesised genetic model. However, more variants may survive these filters than can be investigated further in the laboratory, so the development of efficient filtering and prioritisation methods is of great importance. Many exome sequencing studies of related individuals fail to optimally exploit familial information. This thesis examines strategies for using this information to further reduce lists of candidate mutations, focusing primarily on restricting the search to regions of identical by descent (IBD) sharing between affected individuals. These regions are identified by classical linkage analysis, which can be informed by pedigree-free methods of detecting inbreeding within individuals and shared DNA segments between supposedly unrelated individuals. The power of this approach is demonstrated by a study of three small nuclear families with two forms of adult onset neuronal ceroid lipofuscinosis (ANCL). IBD information was extracted from SNP array genotypes. Biallelic mutations in CTSF were identified as a cause of ANCL presenting with dementia and ataxia, while biallelic mutation of GRN was identified as a cause of an ANCL presenting with retinopathy. As SNP array genotypes are not always available, a method for performing linkage analysis using HapMap SNP genotypes extracted from WES data is developed. LOD scores obtained using WES genotypes are shown to be comparable to those obtained using array genotypes from the same individuals. This approach is then applied to three studies where SNP array genotypes were unavailable. Biallelic mutation of GRM1 are identified as a cause of cerebellar ataxia, heterozygous mutation of NR5A1 as a cause of a disorder of sexual development (DSD)/premature ovarian insufficiency, and biallelic mutation of a third gene is identified as a cause of a DSD/intellectual disability. This thesis additionally explores a method to eliminate candidate variants under a compound heterozygous genetic model. Local phase information can be extracted from reads or read pairs that span multiple heterozygous variants, allowing pairs of heterozygous candidate variants inherited from the same parent to be eliminated. This is useful if parental DNA has not been sequenced. A mixture of two male X chromosomes is used to compare the accuracy of three programs that perform physical phasing of MPS data. The utility of a phase filter is then assessed using WES data for four patients with…

Subjects/Keywords: massively parallel sequencing; monogenic disorders; genetic linkage analysis; identity by descent

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APA (6^th Edition):

Smith, K. R. (2014). Identifying inherited disease-causing mutations using massively parallel sequencing. (Doctoral Dissertation). University of Melbourne. Retrieved from http://hdl.handle.net/11343/42055

Chicago Manual of Style (16^th Edition):

Smith, Katherine Rose. “Identifying inherited disease-causing mutations using massively parallel sequencing.” 2014. Doctoral Dissertation, University of Melbourne. Accessed February 28, 2021. http://hdl.handle.net/11343/42055.

MLA Handbook (7^th Edition):

Smith, Katherine Rose. “Identifying inherited disease-causing mutations using massively parallel sequencing.” 2014. Web. 28 Feb 2021.

Vancouver:

Smith KR. Identifying inherited disease-causing mutations using massively parallel sequencing. [Internet] [Doctoral dissertation]. University of Melbourne; 2014. [cited 2021 Feb 28]. Available from: http://hdl.handle.net/11343/42055.

Council of Science Editors:

Smith KR. Identifying inherited disease-causing mutations using massively parallel sequencing. [Doctoral Dissertation]. University of Melbourne; 2014. Available from: http://hdl.handle.net/11343/42055

University of Dayton

13. Almestiri, Saleh Mohamed. The Dual of SU(2) in the Analysis of Spatial Linkages, SU(2) in the Synthesis of Spherical Linkages, and Isotropic Coordinates in Planar Linkage Singularity Trace Generation.

Degree: PhD, Mechanical Engineering, 2018, University of Dayton

URL: http://rave.ohiolink.edu/etdc/view?acc_num=dayton1524241477831728

► This research seeks to efficiently and systematically model and solve the equations associated with the class of design problems arising in the study of planar… (more)

▼ This research seeks to efficiently and systematically model and solve the equations associated with the class of design problems arising in the study of planar and spatial kinematics. Part of this work is a method to generate singularity traces for planar linkages. This method allows the incorporation of prismatic joints. The generation of the singularity trace is based on equations that use isotropic coordinates to describe a planar linkage. In addition, methods to analyze and synthesize spherical and spatial linkages are presented. The formulation of the analysis and the synthesis problem is accomplish through the use of the special unitary matrices, SU(2). Special unitary matrices are written in algebraic form to express the governing equations as polynomials. These polynomials are readily solved using the tools of homotopy continuation, namely Bertini. The analysis process presented here include determining the displacement and singular configuration for spherical and spatial linkages. Formulations and numerical examples of the analysis problem are presented for spherical four-bar, spherical Watt I linkages, spherical eight-bar, the RCCC, and the RRRCC spatial linkages. Synthesis problem are formulated and solved for spherical linkages, and with lesser extent for spatial linkages. Synthesis formulations for the spherical linkages are done in two different methods. One approach used the loop closure and the other approach is derived from the dot product that recognizes physical constraints within the linkage. The methods are explained and supported with Numerical examples. Specifically, the five orientation synthesis of a spherical four-bar mechanism, the eight orientation task of the Watt I linkage, eleven orientation task of an eight-bar linkage are solved. In addition, the synthesis problem of a 4C mechanism is solved using the physical constraint of the linkage between two links. Finally, using SU(2) readily allows for the use of a homotopy-continuation-based solver, in this case Bertini. The use of Bertini is motivated by its capacity to calculate every possible solution to a system of polynomials . Advisors/Committee Members: Myszka, David (Committee Co-Chair), Murray, Andrew (Committee Co-Chair).

Subjects/Keywords: Engineering; Mechanical Engineering; linkage; analysis; synthesis; spherical; spatial; singularity

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APA (6^th Edition):

Almestiri, S. M. (2018). The Dual of SU(2) in the Analysis of Spatial Linkages, SU(2) in the Synthesis of Spherical Linkages, and Isotropic Coordinates in Planar Linkage Singularity Trace Generation. (Doctoral Dissertation). University of Dayton. Retrieved from http://rave.ohiolink.edu/etdc/view?acc_num=dayton1524241477831728

Chicago Manual of Style (16^th Edition):

Almestiri, Saleh Mohamed. “The Dual of SU(2) in the Analysis of Spatial Linkages, SU(2) in the Synthesis of Spherical Linkages, and Isotropic Coordinates in Planar Linkage Singularity Trace Generation.” 2018. Doctoral Dissertation, University of Dayton. Accessed February 28, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=dayton1524241477831728.

MLA Handbook (7^th Edition):

Almestiri, Saleh Mohamed. “The Dual of SU(2) in the Analysis of Spatial Linkages, SU(2) in the Synthesis of Spherical Linkages, and Isotropic Coordinates in Planar Linkage Singularity Trace Generation.” 2018. Web. 28 Feb 2021.

Vancouver:

Almestiri SM. The Dual of SU(2) in the Analysis of Spatial Linkages, SU(2) in the Synthesis of Spherical Linkages, and Isotropic Coordinates in Planar Linkage Singularity Trace Generation. [Internet] [Doctoral dissertation]. University of Dayton; 2018. [cited 2021 Feb 28]. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=dayton1524241477831728.

Council of Science Editors:

Almestiri SM. The Dual of SU(2) in the Analysis of Spatial Linkages, SU(2) in the Synthesis of Spherical Linkages, and Isotropic Coordinates in Planar Linkage Singularity Trace Generation. [Doctoral Dissertation]. University of Dayton; 2018. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=dayton1524241477831728

Rochester Institute of Technology

14. St. Jacques, Michael. Linkage kinematics sketchpad.

Degree: Computer Science (GCCIS), 1986, Rochester Institute of Technology

URL: https://scholarworks.rit.edu/theses/6053

► During the design and creation of linkage-type mechanisms, visualization of linkage motion is extremely important. However, there does not appear to be a commercially… (more)

▼ During the design and creation of linkage-type mechanisms, visualization of linkage motion is extremely important. However, there does not appear to be a commercially available computer package for accomplishing visualization interactively. Most linkage design packages allow animation of linkage motion only after tedious part description (and debug) using cryptic input codes. The main thrust of this work has been the development of a prototype interactive graphics (CAD) system aimed at visualizing the motion and mobility of linkage-type mechanisms. The program is called the Linkage Kinematics Sketchpad (LKSP). It is a 2-D color graphics program which allows the user to describe a limited set of linkages (limited by a simplified kinematics analysis procedure) and interactively drive the linkage through its inherent motion cycle (or parts thereof) to visualize mobility . First, a theoretical investigation of previous work in motion analysis and display of animation is presented. This is followed by a description of the LKSP program and an evaluation of the software by this author and others more familiar with linkage design. The system design appears to be adequate, and the software is correct with linkage motions as required. As a result of this work the usefulness of this approach has been determined, and a reasonable methodology has been established. Also, problem areas have been defined, and potentially fruitful areas for future work have been identified. LKSP offers a unique approach to planar linkage design with the most desirable features being the interactive user-computer interface, the ability to create linkages with ease, and the ability to observe linkage motion and potential interference. The most commonly cited shortcoming was the limited set of linkage components which LKSP can handle. Also, there were some aspects of the motion animation which were improved as a result of the user evaluations. Suggestions for future extensions include more user control over the motion animation and more precise input of linkage dimensions. Advisors/Committee Members: Johnson, Guy.

Subjects/Keywords: CAD; Computer-aided-design; Computer graphics; Linkage analysis; Linkage design; Linkage kinematics; Linkage synthesis; Mechanisms; Planar linkages

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

St. Jacques, M. (1986). Linkage kinematics sketchpad. (Thesis). Rochester Institute of Technology. Retrieved from https://scholarworks.rit.edu/theses/6053

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

St. Jacques, Michael. “Linkage kinematics sketchpad.” 1986. Thesis, Rochester Institute of Technology. Accessed February 28, 2021. https://scholarworks.rit.edu/theses/6053.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

St. Jacques, Michael. “Linkage kinematics sketchpad.” 1986. Web. 28 Feb 2021.

Vancouver:

St. Jacques M. Linkage kinematics sketchpad. [Internet] [Thesis]. Rochester Institute of Technology; 1986. [cited 2021 Feb 28]. Available from: https://scholarworks.rit.edu/theses/6053.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

St. Jacques M. Linkage kinematics sketchpad. [Thesis]. Rochester Institute of Technology; 1986. Available from: https://scholarworks.rit.edu/theses/6053

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Utah

15. Knight, Stacey. Analysis of extended pedigrees for localizing of genes in neuropyschiatric disorders.

Degree: PhD, Biomedical Informatics;, 2010, University of Utah

URL: http://content.lib.utah.edu/cdm/singleitem/collection/etd2/id/973/rec/91

► The purpose of this dissertation is to evaluate, modify, and develop bioinformatic tools that can be applied to extended pedigrees for the localization of genes… (more)

Subjects/Keywords: Autism; Genetic association; Genetic epidemiology; Linkage analysis; Shared genomic segments; Tourette Syndrome

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APA (6^th Edition):

Knight, S. (2010). Analysis of extended pedigrees for localizing of genes in neuropyschiatric disorders. (Doctoral Dissertation). University of Utah. Retrieved from http://content.lib.utah.edu/cdm/singleitem/collection/etd2/id/973/rec/91

Chicago Manual of Style (16^th Edition):

Knight, Stacey. “Analysis of extended pedigrees for localizing of genes in neuropyschiatric disorders.” 2010. Doctoral Dissertation, University of Utah. Accessed February 28, 2021. http://content.lib.utah.edu/cdm/singleitem/collection/etd2/id/973/rec/91.

MLA Handbook (7^th Edition):

Knight, Stacey. “Analysis of extended pedigrees for localizing of genes in neuropyschiatric disorders.” 2010. Web. 28 Feb 2021.

Vancouver:

Knight S. Analysis of extended pedigrees for localizing of genes in neuropyschiatric disorders. [Internet] [Doctoral dissertation]. University of Utah; 2010. [cited 2021 Feb 28]. Available from: http://content.lib.utah.edu/cdm/singleitem/collection/etd2/id/973/rec/91.

Council of Science Editors:

Knight S. Analysis of extended pedigrees for localizing of genes in neuropyschiatric disorders. [Doctoral Dissertation]. University of Utah; 2010. Available from: http://content.lib.utah.edu/cdm/singleitem/collection/etd2/id/973/rec/91

16. Burns, Randi M. Identification of a Novel Recessive Ataxia Gene.

Degree: PhD, Cellular & Molecular Biology, 2014, University of Michigan

URL: http://hdl.handle.net/2027.42/108924

► While the genes involved in most forms of sporadic or recessive ataxia with mental retardation are still unknown, exome sequencing is a promising tool to… (more)

Subjects/Keywords: Exome Sequencing; Linkage Analysis; Zebrafish Animal Model; Ataxia; Molecular Biology; Genetics; Health Sciences; Science

10 more images…

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Burns, R. M. (2014). Identification of a Novel Recessive Ataxia Gene. (Doctoral Dissertation). University of Michigan. Retrieved from http://hdl.handle.net/2027.42/108924

Chicago Manual of Style (16^th Edition):

Burns, Randi M. “Identification of a Novel Recessive Ataxia Gene.” 2014. Doctoral Dissertation, University of Michigan. Accessed February 28, 2021. http://hdl.handle.net/2027.42/108924.

MLA Handbook (7^th Edition):

Burns, Randi M. “Identification of a Novel Recessive Ataxia Gene.” 2014. Web. 28 Feb 2021.

Vancouver:

Burns RM. Identification of a Novel Recessive Ataxia Gene. [Internet] [Doctoral dissertation]. University of Michigan; 2014. [cited 2021 Feb 28]. Available from: http://hdl.handle.net/2027.42/108924.

Council of Science Editors:

Burns RM. Identification of a Novel Recessive Ataxia Gene. [Doctoral Dissertation]. University of Michigan; 2014. Available from: http://hdl.handle.net/2027.42/108924

University of Saskatchewan

17. Ubayasena, Lasantha Chandana. Genetic analysis, QTL mapping and gene expression analysis of key visual quality traits affecting the market value of field pea.

Degree: 2011, University of Saskatchewan

URL: http://hdl.handle.net/10388/etd-04132011-205234

► Visual quality is one of the major factors that determine the market value of field pea (Pisum sativum L.). Breeding for improved visual quality of… (more)

▼ Visual quality is one of the major factors that determine the market value of field pea (Pisum sativum L.). Breeding for improved visual quality of pea seeds is currently a challenging task, because of the complexity and lack of sound genetic knowledge of the traits. The objectives of this research were to characterize the genetic basis and identify the genomic regions associated with four key visual quality traits (cotyledon bleaching in green pea, greenness in yellow pea, and seed shape and seed dimpling in both green and yellow types) in field pea. Biochemical and gene expression profiling to understand the molecular basis of post-harvest cotyledon bleaching in green pea was also addressed. Two F5:6 recombinant inbred line (RIL) populations (90 lines from Orb X CDC Striker cross, and 120 lines from Alfetta X CDC Bronco cross) were developed and evaluated for visual quality traits in two locations in Saskatchewan, Canada in 2006 and 2007. The four quality traits evaluated all displayed a continuous range of expression with moderate to high heritability. Two genetic linkage maps utilizing 224 markers (29 simple sequence repeat (SSR) (from Agrogene) and 195 amplified fragment length polymorphism (AFLP)) and 223 markers (27 SSR and 196 AFLP ) were constructed for the Orb X CDC Striker population and the Alfetta X CDC Bronco population, respectively. Multiple quantitative traits (QTL) mapping detected major QTLs on linkage group (LG) IV and LG V, as well as location- and year-specific QTLs on LG II and LG III associated with green cotyledon bleaching resistance. Nine QTLs controlling yellow seed lightness, three for yellow seed greenness, 15 for seed shape and nine for seed dimpling were detected. Among them, 5 QTLs located on LG II, LG IV and LG VII were consistent in at least two environments. The QTLs and their associated markers will be useful tools to assist pea breeding programs attempting to pyramid positive alleles for the traits. The bleaching resistant cultivar CDC Striker had a slower rate of chlorophyll degradation in cotyledons and a higher carotenoid to chlorophyll ratio in seed coats than the bleaching susceptible cultivar Orb when seed samples were exposed to high intensity light. An oligo-nucleotide microarray (Ps6kOLI1) was utilized to investigate the gene expression profiles of CDC Striker and Orb seed coats at different developmental stages. It clearly indicated that the expression of genes involved in the production and accumulation of secondary metabolites was significantly different between these cultivars. The results of both biochemical and gene expression studies suggested the bleaching resistance in CDC Striker was not due to the accumulation of chlorophyll pigments in the cotyledons, but rather due to the ability of seed coats to protect them from photooxidation. Accumulation of specific carotenoids which could bind with the reaction center protein complex more effectively and accumulation of phenolic secondary metabolites which could enhance the antioxidant properties and structural… Advisors/Committee Members: Warkentin, Thomas, Bett, Kirstin, Bai, Yuguang, Gray, Gordon, Tyler, Robert, Davis, Art, McPhee, Kevin.

Subjects/Keywords: visual quality; Field pea; SSR; AFLP; linkage mapping; QTL analysis; gene expression

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APA (6^th Edition):

Ubayasena, L. C. (2011). Genetic analysis, QTL mapping and gene expression analysis of key visual quality traits affecting the market value of field pea. (Thesis). University of Saskatchewan. Retrieved from http://hdl.handle.net/10388/etd-04132011-205234

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Ubayasena, Lasantha Chandana. “Genetic analysis, QTL mapping and gene expression analysis of key visual quality traits affecting the market value of field pea.” 2011. Thesis, University of Saskatchewan. Accessed February 28, 2021. http://hdl.handle.net/10388/etd-04132011-205234.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Ubayasena, Lasantha Chandana. “Genetic analysis, QTL mapping and gene expression analysis of key visual quality traits affecting the market value of field pea.” 2011. Web. 28 Feb 2021.

Vancouver:

Ubayasena LC. Genetic analysis, QTL mapping and gene expression analysis of key visual quality traits affecting the market value of field pea. [Internet] [Thesis]. University of Saskatchewan; 2011. [cited 2021 Feb 28]. Available from: http://hdl.handle.net/10388/etd-04132011-205234.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Ubayasena LC. Genetic analysis, QTL mapping and gene expression analysis of key visual quality traits affecting the market value of field pea. [Thesis]. University of Saskatchewan; 2011. Available from: http://hdl.handle.net/10388/etd-04132011-205234

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Texas A&M University

18. Cargill, Edward James. Development of a multiplexing strategy for whole genome scans of the domestic dog and analysis of hereditary deafness in the Dalmatian.

Degree: PhD, Genetics, 2005, Texas A&M University

URL: http://hdl.handle.net/1969.1/2232

► The Dalmatian is affected by deafness more than any other breed of domestic dog, with 30% of the United States population suffering from unilateral or… (more)

▼ The Dalmatian is affected by deafness more than any other breed of domestic dog, with 30% of the United States population suffering from unilateral or bilateral deafness. The genetic origin of deafness in the Dalmatian is unknown. The objective of this work was to identify, using linkage analysis, any chromosomal region(s) in which the gene(s) responsible for deafness in the Dalmatian may be located. To achieve this objective it was necessary to 1) develop multiplexed microsatellite markers for an efficient whole genome scan, 2) assemble a multigenerational Dalmatian kindred segregating deafness, 3) estimate the heritability of deafness and perform complex segregation analysis, and 4) perform linkage analysis of deafness, and other phenotypic traits, in the Dalmatian kindred. A set of 172 microsatellite markers, termed Minimal Screening Set 1 (MSS1), was characterized, prior to this work, for whole genome scans of the domestic dog. 155 of the MSS1 markers were multiplexed into 48 multiplex sets. Amplification of the multiplex sets was achieved using a single thermal cycling program. The markers were labeled with fluorescent dyes and optimized for resolution on an ABI 310 Genetic Analyzer or ABI 377 Sequencer. A kindred of 266 Dalmatians was assembled, of which 199 had been diagnosed using the brainstem auditory evoked response to determine auditory status. Of these, 74.4% (N = 148) had normal hearing, 18.1% (N = 36) were unilaterally deaf, and 7.5% (N = 15) were bilaterally deaf. A heritability of 0.73 was estimated considering deafness a dichotomous trait and 0.75 as a trichotomous trait. Although deafness in the Dalmatian is clearly heritable, the evidence for the presence of a major gene affecting the disorder was not persuasive. Dalmatians (N = 117) from the assembled kindred were genotyped for the MSS1 markers (149 were polymorphic). Linkage analysis was performed for deafness, eye color, and spot color. The maximum LOD scores for deafness were found with markers Cos15 on CFA17 (LOD = 1.69) and FH2585 on CFA28 (LOD = 1.34). No significant linkage was found with eye color. Significant linkage for spot color was found with marker FH2319 (LOD = 9.7) on CFA11. Advisors/Committee Members: Murphy, Keith E. (advisor), Womack, James E. (committee member), Derr, James N. (committee member), Westhusin, Mark E. (committee member).

Subjects/Keywords: canine; deafness; heritability; multiplexing; linkage analysis

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Cargill, E. J. (2005). Development of a multiplexing strategy for whole genome scans of the domestic dog and analysis of hereditary deafness in the Dalmatian. (Doctoral Dissertation). Texas A&M University. Retrieved from http://hdl.handle.net/1969.1/2232

Chicago Manual of Style (16^th Edition):

Cargill, Edward James. “Development of a multiplexing strategy for whole genome scans of the domestic dog and analysis of hereditary deafness in the Dalmatian.” 2005. Doctoral Dissertation, Texas A&M University. Accessed February 28, 2021. http://hdl.handle.net/1969.1/2232.

MLA Handbook (7^th Edition):

Cargill, Edward James. “Development of a multiplexing strategy for whole genome scans of the domestic dog and analysis of hereditary deafness in the Dalmatian.” 2005. Web. 28 Feb 2021.

Vancouver:

Cargill EJ. Development of a multiplexing strategy for whole genome scans of the domestic dog and analysis of hereditary deafness in the Dalmatian. [Internet] [Doctoral dissertation]. Texas A&M University; 2005. [cited 2021 Feb 28]. Available from: http://hdl.handle.net/1969.1/2232.

Council of Science Editors:

Cargill EJ. Development of a multiplexing strategy for whole genome scans of the domestic dog and analysis of hereditary deafness in the Dalmatian. [Doctoral Dissertation]. Texas A&M University; 2005. Available from: http://hdl.handle.net/1969.1/2232

University of Toronto

19. Hoover, Jeffery. Dynamic Analysis of Whiplash.

Degree: 2012, University of Toronto

URL: http://hdl.handle.net/1807/32245

►

This study is concerned with whiplash injuries resulting from the sudden acceleration and deceleration of the head relative to the torso in vehicle collisions. Whiplash… (more)

Subjects/Keywords: whiplash; dynamic; lumped-parameter; rigid linkage; inverse analysis; multi-body; analytical; numerical; experimental; 0548; 0541

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APA (6^th Edition):

Hoover, J. (2012). Dynamic Analysis of Whiplash. (Masters Thesis). University of Toronto. Retrieved from http://hdl.handle.net/1807/32245

Chicago Manual of Style (16^th Edition):

Hoover, Jeffery. “Dynamic Analysis of Whiplash.” 2012. Masters Thesis, University of Toronto. Accessed February 28, 2021. http://hdl.handle.net/1807/32245.

MLA Handbook (7^th Edition):

Hoover, Jeffery. “Dynamic Analysis of Whiplash.” 2012. Web. 28 Feb 2021.

Vancouver:

Hoover J. Dynamic Analysis of Whiplash. [Internet] [Masters thesis]. University of Toronto; 2012. [cited 2021 Feb 28]. Available from: http://hdl.handle.net/1807/32245.

Council of Science Editors:

Hoover J. Dynamic Analysis of Whiplash. [Masters Thesis]. University of Toronto; 2012. Available from: http://hdl.handle.net/1807/32245

20. C. DA SILVA LINGE. FRUIT WEIGHT IN PEACH: ASSESSING THE GENETIC POTENTIAL THROUGH PHENOTYPIC AND GENOMIC TOLLS.

Degree: 2012, Università degli Studi di Milano

URL: http://hdl.handle.net/2434/203362

► The trait fruit weight is of great agronomic importance for the commercial production of peach. In view of conducting a study of association mapping, the… (more)

Subjects/Keywords: peach; molecular markers; linkage analysis; association mapping; Settore AGR/07 - Genetica Agraria

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APA (6^th Edition):

LINGE, C. D. S. (2012). FRUIT WEIGHT IN PEACH: ASSESSING THE GENETIC POTENTIAL THROUGH PHENOTYPIC AND GENOMIC TOLLS. (Thesis). Università degli Studi di Milano. Retrieved from http://hdl.handle.net/2434/203362

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

LINGE, C. DA SILVA. “FRUIT WEIGHT IN PEACH: ASSESSING THE GENETIC POTENTIAL THROUGH PHENOTYPIC AND GENOMIC TOLLS.” 2012. Thesis, Università degli Studi di Milano. Accessed February 28, 2021. http://hdl.handle.net/2434/203362.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

LINGE, C. DA SILVA. “FRUIT WEIGHT IN PEACH: ASSESSING THE GENETIC POTENTIAL THROUGH PHENOTYPIC AND GENOMIC TOLLS.” 2012. Web. 28 Feb 2021.

Vancouver:

LINGE CDS. FRUIT WEIGHT IN PEACH: ASSESSING THE GENETIC POTENTIAL THROUGH PHENOTYPIC AND GENOMIC TOLLS. [Internet] [Thesis]. Università degli Studi di Milano; 2012. [cited 2021 Feb 28]. Available from: http://hdl.handle.net/2434/203362.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

LINGE CDS. FRUIT WEIGHT IN PEACH: ASSESSING THE GENETIC POTENTIAL THROUGH PHENOTYPIC AND GENOMIC TOLLS. [Thesis]. Università degli Studi di Milano; 2012. Available from: http://hdl.handle.net/2434/203362

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Adelaide

21. Shepherd, Emily Sarah. Closing Research Gaps for Cerebral Palsy Prevention and Magnesium Sulphate Neuroprotection.

Degree: 2020, University of Adelaide

URL: http://hdl.handle.net/2440/126062

► Background: Cerebral palsy (CP) is the leading cause of physical disability in childhood. Despite emerging evidence that the prevalence of CP has begun to decline,… (more)

▼ Background: Cerebral palsy (CP) is the leading cause of physical disability in childhood. Despite emerging evidence that the prevalence of CP has begun to decline, approximately one in 500 babies continue to be affected worldwide. While causes and risk factors for CP are well established, potential preventive interventions are under-researched. Aims: 1. To summarise and interpret the evidence regarding antenatal and intrapartum interventions for preventing CP. 2. To summarise and interpret the evidence regarding neonatal interventions for preventing CP. 3. To link data from a maternal perinatal randomised controlled trial (RCT) with a nationwide CP register to identify children with CP. 4. To assess whether antenatal magnesium sulphate is associated with perinatal death or other adverse neonatal outcomes. Methods: To achieve the above aims, the following methodologies were employed: 1. An overview of Cochrane reviews regarding antenatal and intrapartum interventions for CP prevention. 2. An overview of Cochrane reviews regarding neonatal interventions for CP prevention. 3. A de-identified linkage of Australasian Collaborative Trial of Magnesium Sulphate (ACTOMgSO4) and Australian Cerebral Palsy Register (ACPR) data. 4. A systematic review of RCTs and non-randomised studies assessing antenatal magnesium sulphate, perinatal death and other adverse neonatal outcomes. Results: 1. The overview of antenatal and intrapartum interventions included 15 Cochrane reviews, with CP data from 27 RCTs (32,490 children). Magnesium sulphate for women at risk of very preterm birth for fetal neuroprotection reduced CP risk (high-quality evidence). CP risk was probably increased (moderate-quality evidence, 2 reviews), probably not changed (moderate-quality evidence, 1 review), or unclear (low- to very low-quality evidence, 11 reviews) with other interventions assessed. 2. The overview of neonatal interventions included 43 Cochrane reviews, with CP data from 96 RCTs (15,885 children). Therapeutic hypothermia in late preterm or term neonates with hypoxic-ischaemic encephalopathy reduced CP risk (high-quality evidence), and prophylactic methylxanthines for endotracheal extubation in preterm neonates probably reduced CP risk (moderate-quality evidence). CP risk was probably increased (moderate-quality evidence, 2 reviews), probably not changed (moderate-quality evidence, 5 reviews), or unclear (low- to very low-quality evidence, 26 reviews) with other interventions assessed. 3. Linkage of data from 913 ACTOMgSO4 children (born 1996-2000) and the ACPR was achieved. Differences in ACTOMgSO4 (at 2 years) and ACPR (up to 5 years) CP diagnoses were identified; attributed to limitations in CP diagnostic methods, and register under-ascertainment in this era. 4. The systematic review of adverse neonatal outcomes included 40 RCTs (19,265 women and their babies), 138 non-randomised studies, and 19 case reports. Perinatal death was not increased with antenatal magnesium sulphate in RCTs. RCTs showed no clear increased risks of other adverse neonatal… Advisors/Committee Members: Crowther, Caroline (advisor), Middleton, Philipa (advisor), Makrides, Maria (advisor), Adelaide Medical School (school).

Subjects/Keywords: Cerebral palsy; magnesium sulfate; neuroprotection; preterm; prevention; sytematic review; meta-analysis; data linkage

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APA (6^th Edition):

Shepherd, E. S. (2020). Closing Research Gaps for Cerebral Palsy Prevention and Magnesium Sulphate Neuroprotection. (Thesis). University of Adelaide. Retrieved from http://hdl.handle.net/2440/126062

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Shepherd, Emily Sarah. “Closing Research Gaps for Cerebral Palsy Prevention and Magnesium Sulphate Neuroprotection.” 2020. Thesis, University of Adelaide. Accessed February 28, 2021. http://hdl.handle.net/2440/126062.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Shepherd, Emily Sarah. “Closing Research Gaps for Cerebral Palsy Prevention and Magnesium Sulphate Neuroprotection.” 2020. Web. 28 Feb 2021.

Vancouver:

Shepherd ES. Closing Research Gaps for Cerebral Palsy Prevention and Magnesium Sulphate Neuroprotection. [Internet] [Thesis]. University of Adelaide; 2020. [cited 2021 Feb 28]. Available from: http://hdl.handle.net/2440/126062.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Shepherd ES. Closing Research Gaps for Cerebral Palsy Prevention and Magnesium Sulphate Neuroprotection. [Thesis]. University of Adelaide; 2020. Available from: http://hdl.handle.net/2440/126062

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University College London (University of London)

22. Jarman, Paul Richard. A molecular genetic study of inherited movement disorders.

Degree: PhD, 1998, University College London (University of London)

URL: https://discovery.ucl.ac.uk/id/eprint/10111605/ ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325154

► This thesis describes a molecular genetic study of four dominantly inherited movement disorders: paroxysmal dystonic choreoathetosis (PDC), hereditary geniospasm, primary torsion dystonia (PTD) and dopa-responsive… (more)

▼ This thesis describes a molecular genetic study of four dominantly inherited movement disorders: paroxysmal dystonic choreoathetosis (PDC), hereditary geniospasm, primary torsion dystonia (PTD) and dopa-responsive dystonia (DRD). The principal methodology employed in the study of these disorders was genetic linkage analysis. Sets of highly polymorphic microsatellite markers were used to map the subchromosomal location of the disorders as the first step in a positional cloning strategy for disease gene identification. 1. Paroxysmal dystonic choreoathetosis. A large British family with PDC was ascertained, and a detailed description of clinical features obtained. A genome-wide search for genetic linkage was performed, and linkage of the PDC gene in this family to markers on the distal long arm of chromosome 2 was confirmed (maximum LOD score 8.7). Fine genetic mapping using closely spaced markers allowed refinement of the candidate region to a 3.8 cM interval. Two putative candidate genes mapping to this region were evaluated using intragenic polymorphisms for linkage analysis. 2. Hereditary geniospasm. Two large families with hereditary geniospasm were ascertained, and one family studied as described above. Linkage of a gene for geniospasm to genetic markers on the proximal long arm of chromosome 9 was found with a maximum LOD score of 5.24. The gene (GSMl) was mapped to a 2.1 cM interval. Geniospasm in a second family was excluded from this region, indicating genetic heterogeneity. 3. Primary torsion dystonia. A large Australian family with PTD was studied but genetic linkage was not observed with any of the markers analysed. Exclusion of dystonia in this family and two other families with PTD, from known PTD loci on chromosomes 8 and 18 indicates the existence of at least one more genetic locus for PTD. 4. Dopa-responsive dystonia. Mutation analysis of the GTP cyclohydrolase I gene (GCHl) was performed in seven patients diagnosed with anticholinergic-responsive PTD who were suspected of having DRD. Three novel GCHl mutations were identified in two patients, one of whom was a compound heterozygote. These findings are discussed and future directions of study for identification of the disease genes involved are suggested.

Subjects/Keywords: 610; Linkage analysis; Polymorphic markers; Diseases

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APA (6^th Edition):

Jarman, P. R. (1998). A molecular genetic study of inherited movement disorders. (Doctoral Dissertation). University College London (University of London). Retrieved from https://discovery.ucl.ac.uk/id/eprint/10111605/ ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325154

Chicago Manual of Style (16^th Edition):

Jarman, Paul Richard. “A molecular genetic study of inherited movement disorders.” 1998. Doctoral Dissertation, University College London (University of London). Accessed February 28, 2021. https://discovery.ucl.ac.uk/id/eprint/10111605/ ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325154.

MLA Handbook (7^th Edition):

Jarman, Paul Richard. “A molecular genetic study of inherited movement disorders.” 1998. Web. 28 Feb 2021.

Vancouver:

Jarman PR. A molecular genetic study of inherited movement disorders. [Internet] [Doctoral dissertation]. University College London (University of London); 1998. [cited 2021 Feb 28]. Available from: https://discovery.ucl.ac.uk/id/eprint/10111605/ ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325154.

Council of Science Editors:

Jarman PR. A molecular genetic study of inherited movement disorders. [Doctoral Dissertation]. University College London (University of London); 1998. Available from: https://discovery.ucl.ac.uk/id/eprint/10111605/ ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325154

California State University – Sacramento

23. Dy, Sharisse Balanon. The application of multiple matrix sampling to KSAO-task linkages.

Degree: MA, Psychology (Industrial/Organizational Psychology, 2010, California State University – Sacramento

URL: http://hdl.handle.net/10211.9/689

► The linkage process of job analysis requires subject matter experts (SMEs) to rate an overwhelming number of linkages between tasks and KSAOs. Archival data was… (more)

Subjects/Keywords: Job analysis; Linkage process; Generalizability theory

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APA (6^th Edition):

Dy, S. B. (2010). The application of multiple matrix sampling to KSAO-task linkages. (Masters Thesis). California State University – Sacramento. Retrieved from http://hdl.handle.net/10211.9/689

Chicago Manual of Style (16^th Edition):

Dy, Sharisse Balanon. “The application of multiple matrix sampling to KSAO-task linkages.” 2010. Masters Thesis, California State University – Sacramento. Accessed February 28, 2021. http://hdl.handle.net/10211.9/689.

MLA Handbook (7^th Edition):

Dy, Sharisse Balanon. “The application of multiple matrix sampling to KSAO-task linkages.” 2010. Web. 28 Feb 2021.

Vancouver:

Dy SB. The application of multiple matrix sampling to KSAO-task linkages. [Internet] [Masters thesis]. California State University – Sacramento; 2010. [cited 2021 Feb 28]. Available from: http://hdl.handle.net/10211.9/689.

Council of Science Editors:

Dy SB. The application of multiple matrix sampling to KSAO-task linkages. [Masters Thesis]. California State University – Sacramento; 2010. Available from: http://hdl.handle.net/10211.9/689

24. Song, Yeunjoo E. New Score Tests for Genetic Linkage Analysis in a Likelihood Framework.

Degree: PhD, Epidemiology and Biostatistics, 2013, Case Western Reserve University School of Graduate Studies

URL: http://rave.ohiolink.edu/etdc/view?acc_num=case1354561219

► Linkage analysis has been the successful primary tool for mapping many Mendelian traits and some complex traits until the genetic analysis paradigm shifted from… (more)

▼ Linkage analysis has been the successful primary tool for mapping many Mendelian traits and some complex traits until the genetic analysis paradigm shifted from rare Mendelian disease mapping using family data to the common variant-common disease mapping mainly using unrelated case-control data, i.e., genome-wise association studies (GWAS). However, the emerging availability of sequencing data and the inability to detect rare risk variants by GWAS has led to a renewed interest in linkage and other family-basedmethods. Olson (1999)’s Conditional-Logistic (CL) model retains the nice property of the LOD score formulation, and has advantages over other methods to make it an appropriate choice for complex trait mapping. However, the asymptotic distribution of the CL-LR statistic with constraints on the model parameters is unknown. Also, the method assumes independence of pairs; therefore, significance levels are biased, resulting in increased type I error rates, with data consisting of a pedigree with multiple ARPs. The goal of this dissertation is to address these issues, and several steps of work are done. First, a web-based tool that pipelines the informatics process for pedigree data is developed. Given pedigree data, it provides a convenient “one-stop-shop” for pedigree informatics: descriptive statistics, genetic similarity coefficients, the variance-covariance values for similarity coefficients, a plot of pedigree structure, and a visualization of identity coefficients. Next, three approximations to the asymptotic null distributions of the CL-LR statistics are developed and compared with the empirical null distributions by simulation using independent ASPs. Then, the impact of the pedigree structure on the null distribution of CL-LOD scores is investigated for different analysis models, suggesting a promising indicator to be used in a weighting scheme. Lastly, new score tests in the CL model framework are developed accounting for the non independence of multiple pairs within a pedigree. The performance of the score tests is evaluated and compared with those of other existing methods by simulation. The work will provide a valuable addition to improve the current genetic analysis of complex traits, thereby contributing to the identification of genes for disease traits. Advisors/Committee Members: Elston, Robert C. (Committee Chair).

Subjects/Keywords: Bioinformatics; Biostatistics; Epidemiology; Genetics; Statistics; genetic linkage analysis; score test; likelihood; pedigree information; correlated data

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APA (6^th Edition):

Song, Y. E. (2013). New Score Tests for Genetic Linkage Analysis in a Likelihood Framework. (Doctoral Dissertation). Case Western Reserve University School of Graduate Studies. Retrieved from http://rave.ohiolink.edu/etdc/view?acc_num=case1354561219

Chicago Manual of Style (16^th Edition):

Song, Yeunjoo E. “New Score Tests for Genetic Linkage Analysis in a Likelihood Framework.” 2013. Doctoral Dissertation, Case Western Reserve University School of Graduate Studies. Accessed February 28, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=case1354561219.

MLA Handbook (7^th Edition):

Song, Yeunjoo E. “New Score Tests for Genetic Linkage Analysis in a Likelihood Framework.” 2013. Web. 28 Feb 2021.

Vancouver:

Song YE. New Score Tests for Genetic Linkage Analysis in a Likelihood Framework. [Internet] [Doctoral dissertation]. Case Western Reserve University School of Graduate Studies; 2013. [cited 2021 Feb 28]. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=case1354561219.

Council of Science Editors:

Song YE. New Score Tests for Genetic Linkage Analysis in a Likelihood Framework. [Doctoral Dissertation]. Case Western Reserve University School of Graduate Studies; 2013. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=case1354561219

East Tennessee State University

25. Arthur, Clara. Linkage Analysis and Compositional Studies of β-Glucan from Saccharomyces Cerevisiae and Compositional Studies of Mannan from Candida Albicans.

Degree: MS, Chemistry, 2015, East Tennessee State University

URL: https://dc.etsu.edu/etd/2537

► The efficacy of a novel carbohydrate extraction procedure was investigated with methylation analysis and alditol acetate method by Gas Chromatography-Mass Spectrometry. A published extraction… (more)

Subjects/Keywords: Monosaccharide compositional analysis; Linkage analysis; Partially methylated alditol acetate; Alditol acetate; Saccharomyces cerevisiae; Candida albicans; Analytical Chemistry

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APA (6^th Edition):

Arthur, C. (2015). Linkage Analysis and Compositional Studies of β-Glucan from Saccharomyces Cerevisiae and Compositional Studies of Mannan from Candida Albicans. (Thesis). East Tennessee State University. Retrieved from https://dc.etsu.edu/etd/2537

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Arthur, Clara. “Linkage Analysis and Compositional Studies of β-Glucan from Saccharomyces Cerevisiae and Compositional Studies of Mannan from Candida Albicans.” 2015. Thesis, East Tennessee State University. Accessed February 28, 2021. https://dc.etsu.edu/etd/2537.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Arthur, Clara. “Linkage Analysis and Compositional Studies of β-Glucan from Saccharomyces Cerevisiae and Compositional Studies of Mannan from Candida Albicans.” 2015. Web. 28 Feb 2021.

Vancouver:

Arthur C. Linkage Analysis and Compositional Studies of β-Glucan from Saccharomyces Cerevisiae and Compositional Studies of Mannan from Candida Albicans. [Internet] [Thesis]. East Tennessee State University; 2015. [cited 2021 Feb 28]. Available from: https://dc.etsu.edu/etd/2537.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Arthur C. Linkage Analysis and Compositional Studies of β-Glucan from Saccharomyces Cerevisiae and Compositional Studies of Mannan from Candida Albicans. [Thesis]. East Tennessee State University; 2015. Available from: https://dc.etsu.edu/etd/2537

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Stirling

26. Rajaee, Amy H. Genetic Approaches To The Analysis of Body Colouration in Nile Tilapia (Oreochromis niloticus).

Degree: PhD, 2011, University of Stirling

URL: http://hdl.handle.net/1893/3418

► Body colouration in tilapia is an important trait affecting consumer preference. In the Nile tilapia (Oreochromis niloticus), there are three colour variants which are normal… (more)

▼ Body colouration in tilapia is an important trait affecting consumer preference. In the Nile tilapia (Oreochromis niloticus), there are three colour variants which are normal (wild type), red and blond. In some countries, the red variant is important and reaches higher prices in the market. However, one major problem regarding red tilapia culture is their body colouration which is often associated with blotching (mainly black but also red) which is undesirable for the consumer. The overall aim of this work was to expand knowledge on various aspects of body colouration in Nile tilapia using genetic approaches. The results of this research are presented as four different manuscripts. The manuscripts (here referred as Papers) have either been published (Paper IV) or are to be submitted (Paper I, II and III) in relevant peer reviewed journals. Paper I and II investigated the inheritance of black blotching and other body colour components of the red body colour. Specifically, Paper I consisted of two preliminary trials (Trial 1 and 2), to look at the ontogeny of black blotching and body colour components over a period of six months. Trial 1 investigated the effect of tank background colour (light vs dark) on black blotching and other body colour components and was carried out using a fully inbred (all female) clonal red line. Trial 2 was carried out using mixed sex fish and was aimed to investigate the association of black blotching with the sex of the fish. The results from this study were used to guide the experiment described in Paper II. Sixteen red sires with various levels of black and red blotching were crossed to clonal females and the inheritance of blotching and other body colour components were investigated using parent-offspring regressions. The results showed no significant heritability for black blotching and body redness, but a significant correlation for body redness and black blotching was found in female offspring at one sampling point suggesting that attempts to increase body redness may increase black blotching, as had been hypothesized. Paper III was divided into two parts. The first objective was to map the blond locus onto the tilapia linkage map and the second was to investigate the interaction of the blond and red genes on black blotching using the blond-linked markers to distinguish different blond genotypes in heterozygous red fish (i.e. RrBlbl or Rrblbl). In the blond fish, the formation of melanin is almost blocked via much reduced melanophores and this feature may be able to help reducing the black blotching in red tilapia. Two intraspecific families (O. niloticus) and one interspecific family (O. aureus and O. niloticus) were used as mapping families and the blond locus was located in LG5. Four out of eight markers were successfully used to assess the interaction of blond on red blotched fish. The blond gene did not significantly reduce the area of blotching but did reduce the saturation (paler blotching) and enhanced the redness of body colour in the Rrblbl fish compared…

Subjects/Keywords: Nile tilapia; body colouration; genetic; image analysis; blotches; red tilapia; linkage mapping; blond; Nile tilapia; Fishes Color; Consumer behavior; Image analysis

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APA (6^th Edition):

Rajaee, A. H. (2011). Genetic Approaches To The Analysis of Body Colouration in Nile Tilapia (Oreochromis niloticus). (Doctoral Dissertation). University of Stirling. Retrieved from http://hdl.handle.net/1893/3418

Chicago Manual of Style (16^th Edition):

Rajaee, Amy H. “Genetic Approaches To The Analysis of Body Colouration in Nile Tilapia (Oreochromis niloticus).” 2011. Doctoral Dissertation, University of Stirling. Accessed February 28, 2021. http://hdl.handle.net/1893/3418.

MLA Handbook (7^th Edition):

Rajaee, Amy H. “Genetic Approaches To The Analysis of Body Colouration in Nile Tilapia (Oreochromis niloticus).” 2011. Web. 28 Feb 2021.

Vancouver:

Rajaee AH. Genetic Approaches To The Analysis of Body Colouration in Nile Tilapia (Oreochromis niloticus). [Internet] [Doctoral dissertation]. University of Stirling; 2011. [cited 2021 Feb 28]. Available from: http://hdl.handle.net/1893/3418.

Council of Science Editors:

Rajaee AH. Genetic Approaches To The Analysis of Body Colouration in Nile Tilapia (Oreochromis niloticus). [Doctoral Dissertation]. University of Stirling; 2011. Available from: http://hdl.handle.net/1893/3418

University of Oulu

27. Daavittila, I. (Iita). Genetic risk factors for lumbar intervertebral disc disease characterized by sciatica.

Degree: 2007, University of Oulu

URL: http://urn.fi/urn:isbn:9789514283666

► Abstract Genetic factors have been shown to have an important role in intervertebral disc disease. The associations of known genetic risk factors and whole-body vibration,… (more)

▼ Abstract Genetic factors have been shown to have an important role in intervertebral disc disease. The associations of known genetic risk factors and whole-body vibration, a proposed environmental risk factor, for intervertebral disc disease (IDD) were evaluated. Eleven variations in eight genes (COL9A2, COL9A3, COL11A2, IL1A, IL1B, IL6, MMP-3 and VDR) were genotyped in 150 male train engineers with an average of 21-year exposure to whole-body vibration and 61 male paper mill workers with no occupational exposure to vibration. The number of individuals belonging to the IDD group was significantly higher among train engineers (42% of train engineers vs. 17.5% of sedentary workers; p = 0.005). In addition, the IL1A-889T allele represented a risk factor for the IDD-phenotype. In order to clarify the role of genetic variations in the genes coding for several proinflammatory mediators, hundred fifty-five Finnish individuals with IDD were analyzed for mutations in the genes coding for inflammatory mediators IL-1α, IL-1β, IL-6 and TNF-α. In addition, sixteen single nucleotide polymorphisms (SNPs) in inflammatory mediator genes were genotyped. An association was identified between IDD and IL6 polymorphism +15T>A in exon 5 (p = 0.007). In addition, IL6 haplotype GGGA of -597G>A, -572G>C, -174G>C and +15T>A in exon 5 associated with IDD (p = 0.0033). A functional SNP in the CILP gene has been suggested to cause IDD in the Japanese population. This functional variation was analyzed in 243 Finnish IDD patients and 259 controls, and in 348 Chinese individuals with degenerative MRI findings and 343 Chinese individuals with normal MRI. No association was found in the Finnish and Chinese study populations. In order to reveal chromosomal susceptibility loci and new candidate gene(s) for IDD a genome-wide scan was performed on 14 Finnish families with 186 individuals. Genome-wide and fine mapping analysis provided maximum two-point LOD scores of 2.71, 2.36 and 2.04 for chromosomes 21, 4, and 6, respectively. Second fine mapping confirmed the susceptibility of chromosome 21. Two candidate genes, ADAMTS-1 and ADAMTS-5, were analyzed in the region suggesting linkage, leading to the identification of thirteen sequence variations. However, none of the variations were disease causing.

Subjects/Keywords: genetics; inflammation; intervertebral disc disease; linkage analysis

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Daavittila, I. (. (2007). Genetic risk factors for lumbar intervertebral disc disease characterized by sciatica. (Doctoral Dissertation). University of Oulu. Retrieved from http://urn.fi/urn:isbn:9789514283666

Chicago Manual of Style (16^th Edition):

Daavittila, I (Iita). “Genetic risk factors for lumbar intervertebral disc disease characterized by sciatica.” 2007. Doctoral Dissertation, University of Oulu. Accessed February 28, 2021. http://urn.fi/urn:isbn:9789514283666.

MLA Handbook (7^th Edition):

Daavittila, I (Iita). “Genetic risk factors for lumbar intervertebral disc disease characterized by sciatica.” 2007. Web. 28 Feb 2021.

Vancouver:

Daavittila I(. Genetic risk factors for lumbar intervertebral disc disease characterized by sciatica. [Internet] [Doctoral dissertation]. University of Oulu; 2007. [cited 2021 Feb 28]. Available from: http://urn.fi/urn:isbn:9789514283666.

Council of Science Editors:

Daavittila I(. Genetic risk factors for lumbar intervertebral disc disease characterized by sciatica. [Doctoral Dissertation]. University of Oulu; 2007. Available from: http://urn.fi/urn:isbn:9789514283666

University of Michigan

28. Hauser, Elizabeth Rebecca. Methods for linkage analysis of complex genetic disease.

Degree: PhD, Genetics, 1998, University of Michigan

URL: http://hdl.handle.net/2027.42/130985

► The identification of genes playing a role in the etiology of common diseases, such as diabetes, mental illness, and heart disease could have substantial impact… (more)

Subjects/Keywords: Analysis; Complex; Disease; Genetic; Interval Mapping; Linkage; Methods

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Hauser, E. R. (1998). Methods for linkage analysis of complex genetic disease. (Doctoral Dissertation). University of Michigan. Retrieved from http://hdl.handle.net/2027.42/130985

Chicago Manual of Style (16^th Edition):

Hauser, Elizabeth Rebecca. “Methods for linkage analysis of complex genetic disease.” 1998. Doctoral Dissertation, University of Michigan. Accessed February 28, 2021. http://hdl.handle.net/2027.42/130985.

MLA Handbook (7^th Edition):

Hauser, Elizabeth Rebecca. “Methods for linkage analysis of complex genetic disease.” 1998. Web. 28 Feb 2021.

Vancouver:

Hauser ER. Methods for linkage analysis of complex genetic disease. [Internet] [Doctoral dissertation]. University of Michigan; 1998. [cited 2021 Feb 28]. Available from: http://hdl.handle.net/2027.42/130985.

Council of Science Editors:

Hauser ER. Methods for linkage analysis of complex genetic disease. [Doctoral Dissertation]. University of Michigan; 1998. Available from: http://hdl.handle.net/2027.42/130985

University of Michigan

29. Epstein, Michael Philip. Statistical methods in gene mapping of familial traits.

Degree: PhD, Genetics, 2002, University of Michigan

URL: http://hdl.handle.net/2027.42/123161

► Many issues can reduce the power of statistical methods to map genes that influence familial traits. For my thesis, I focus on two such issues.… (more)

Subjects/Keywords: Familial Traits; Gene Mapping; Linkage Analysis; Methods; Statistical

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Epstein, M. P. (2002). Statistical methods in gene mapping of familial traits. (Doctoral Dissertation). University of Michigan. Retrieved from http://hdl.handle.net/2027.42/123161

Chicago Manual of Style (16^th Edition):

Epstein, Michael Philip. “Statistical methods in gene mapping of familial traits.” 2002. Doctoral Dissertation, University of Michigan. Accessed February 28, 2021. http://hdl.handle.net/2027.42/123161.

MLA Handbook (7^th Edition):

Epstein, Michael Philip. “Statistical methods in gene mapping of familial traits.” 2002. Web. 28 Feb 2021.

Vancouver:

Epstein MP. Statistical methods in gene mapping of familial traits. [Internet] [Doctoral dissertation]. University of Michigan; 2002. [cited 2021 Feb 28]. Available from: http://hdl.handle.net/2027.42/123161.

Council of Science Editors:

Epstein MP. Statistical methods in gene mapping of familial traits. [Doctoral Dissertation]. University of Michigan; 2002. Available from: http://hdl.handle.net/2027.42/123161

Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ)

30. Votsi, Christina. Χαρακτηρισμός μεταλλάξεων που προκαλούν την εμφάνιση νωτιαιοπαρεγκεφαλιδικών αταξιών στον άνθρωπο.

Degree: 2013, Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ)

URL: http://hdl.handle.net/10442/hedi/37304

► Spinocerebellar ataxias encompass a heterogeneous group of rare diseases that affect the cerebellum, the spinocerebellar tract and/or the sensory tracts of the spinal cord. Their… (more)

▼ Spinocerebellar ataxias encompass a heterogeneous group of rare diseases that affect the cerebellum, the spinocerebellar tract and/or the sensory tracts of the spinal cord. Their main and common characteristic symptom is ataxia which means lack of coordination in position and movement. Usually they are characterized by impaired walking with lack of gait and limb coordination followed by difficulties in speech and eye movement. At a later stage, dysfunction of other systems can possibly occur and symptoms such as cardiomyopathy, diabetes mellitus, respiratory and skeletal problems might be observed. Even though ataxias are characterized by genetic heterogeneity, there are difficulties in their correct clinical diagnosis due to the existence of a large phenotypic overlap. They are divided into 2 main categories: the sporadic forms and the hereditary forms which follow the Mendelian criteria. Concerning the classification of hereditary forms, even though different schemes have been proposed in the past, it still remains ambiguous. In the present study, none of the previously proposed schemes has been followed. A new classification was performed based on the different criteria that have been used before. For the recessive and the dominant forms more than 55 responsible genes have been identified thus far. Regarding the recessive forms the most significant progress has been observed over the last 15 years since more than 20 genes and loci have been identified. In the Cypriot population families and sporadic cases of ataxia have been studied by the Neurogenetics Department of the Cyprus Institute of Neurology and Genetics, since 1989. The majority of the patients belong to recessive families or they are sporadic cases. Through previous studies, a large number of Friedreich’s ataxia patients and carriers of the GAA repeat expansion in intron 1 of the FXN gene have been identified. This mutation is the most frequent mutation in the population thus far. The second most frequent mutation is a novel recently identified Cypriot mutation (c.5308_5311 del GAGA) in the SETX gene, which has not been reported in other populations. The present study is a continuation of previous studies aiming at the molecular genetic characterization of undiagnosed cases. Fourteen families and thirty-seven sporadic patients were available at the beginning of this project. Eleven families had been classified as recessive, two as dominant and one could not be classified. All the patients had been previously excluded for the GAA repeat expansion of the FXN gene and from other known mutations that had been found in other populations. Initially, two of the possible known mutations that had not been tested before were investigated: the pentanucleotide repeat expansion in the ATXN10 gene and the recently identified Cypriot mutation in the SETX gene. Then, the APTX, SETX and FXN genes were investigated for a discrepancy in their exon dosages by the use of the MLPA method. All the patients were excluded for the above mutations. Then, in order to investigate…

Subjects/Keywords: Παρεγκεφαλιδική αταξία; Ανάλυση γενετικής σύνδεσης; Δυναμική μετάλλαξη; Νέα γονιδιακή θέση; Cerebellar ataxia; Genetic linkage analysis; Dynamic mutation; New genetic locus

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Votsi, C. (2013). Χαρακτηρισμός μεταλλάξεων που προκαλούν την εμφάνιση νωτιαιοπαρεγκεφαλιδικών αταξιών στον άνθρωπο. (Thesis). Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ). Retrieved from http://hdl.handle.net/10442/hedi/37304

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Votsi, Christina. “Χαρακτηρισμός μεταλλάξεων που προκαλούν την εμφάνιση νωτιαιοπαρεγκεφαλιδικών αταξιών στον άνθρωπο.” 2013. Thesis, Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ). Accessed February 28, 2021. http://hdl.handle.net/10442/hedi/37304.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Votsi, Christina. “Χαρακτηρισμός μεταλλάξεων που προκαλούν την εμφάνιση νωτιαιοπαρεγκεφαλιδικών αταξιών στον άνθρωπο.” 2013. Web. 28 Feb 2021.

Vancouver:

Votsi C. Χαρακτηρισμός μεταλλάξεων που προκαλούν την εμφάνιση νωτιαιοπαρεγκεφαλιδικών αταξιών στον άνθρωπο. [Internet] [Thesis]. Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ); 2013. [cited 2021 Feb 28]. Available from: http://hdl.handle.net/10442/hedi/37304.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Votsi C. Χαρακτηρισμός μεταλλάξεων που προκαλούν την εμφάνιση νωτιαιοπαρεγκεφαλιδικών αταξιών στον άνθρωπο. [Thesis]. Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ); 2013. Available from: http://hdl.handle.net/10442/hedi/37304

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

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Open Access Theses and Dissertations