subject:(Genetic Disorders)

McMaster University

1. Shanmuganathan, Meera. High-Quality Screening of Pharmacological Chaperones for Enzyme Enhancement Therapy.

Degree: 2015, McMaster University

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Enzyme enhancement therapy based on pharmacological chaperones (PCs) represents a promising new therapeutic strategy for the treatment of rare genetic disorders associated with protein misfolding.… (more)

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Enzyme enhancement therapy based on pharmacological chaperones (PCs) represents a promising new therapeutic strategy for the treatment of rare genetic disorders associated with protein misfolding. PCs are small extrinsic molecules that activate, stabilize and promote folding as a way to rescue mutant enzymes from endoplasmic reticulum-associated protein degradation. To date, high throughput drug screening has relied on fluorescence-based inhibition and/or thermal stability assays for putative PC selection from large chemical libraries with confirmatory testing on patient-derived cell-based assays or animal models. However, conventional primary screening methods do not directly measure for chaperone activity that may contribute to high attrition rates in drug discovery. The major aim of this thesis is to develop and validate a high quality screening strategy for the discovery of novel PCs that restore the activity of denatured/mutant enzymes associated with Gaucher disease (GD) and phenylketonuria (PKU). Chapter II introduces a simple yet selective capillary electrophoresis (CE)-based inhibition assay for improved characterization of previously-approved FDA drugs that function as putative PCs for β-glucocerebrosidase (GCase), a lysosomal enzyme associated with GD. A novel in-vitro assay based on restoration of enzyme activity via denaturation (READ) was developed in Chapter III for unambiguous characterization of the chaperone activity of previously identified PCs for GCase when using CE with UV detection. Chapter IV subsequently adapted READ to a fluorescence-based high throughput screening platform to discover novel stilbene derivatives as PCs from a chemical library comprising structural unique compounds after in silico assessment of drug-like activity. Chapter V then used this two-tiered screening strategy to discover plant-derived natural products that enhance the activity of phenylalanine hydroxylase (PAH), the enzyme associated with PKU. In summary, an integrated two-tiered strategy for high quality screening of PCs has been developed in this thesis, which is anticipated to enhance drug discovery while reducing false discoveries for treatment of various human diseases associated with deleterious protein misfolding.

Thesis

Candidate in Philosophy

Advisors/Committee Members: Britz-McKibbin, Philip, Chemical Biology.

Subjects/Keywords: Pharamacological Chaperones; Genetic Disorders

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APA (6^th Edition):

Shanmuganathan, M. (2015). High-Quality Screening of Pharmacological Chaperones for Enzyme Enhancement Therapy. (Thesis). McMaster University. Retrieved from http://hdl.handle.net/11375/16733

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):

Shanmuganathan, Meera. “High-Quality Screening of Pharmacological Chaperones for Enzyme Enhancement Therapy.” 2015. Thesis, McMaster University. Accessed April 15, 2021. http://hdl.handle.net/11375/16733.

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

MLA Handbook (7^th Edition):

Shanmuganathan, Meera. “High-Quality Screening of Pharmacological Chaperones for Enzyme Enhancement Therapy.” 2015. Web. 15 Apr 2021.

Vancouver:

Shanmuganathan M. High-Quality Screening of Pharmacological Chaperones for Enzyme Enhancement Therapy. [Internet] [Thesis]. McMaster University; 2015. [cited 2021 Apr 15]. Available from: http://hdl.handle.net/11375/16733.

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

Council of Science Editors:

Shanmuganathan M. High-Quality Screening of Pharmacological Chaperones for Enzyme Enhancement Therapy. [Thesis]. McMaster University; 2015. Available from: http://hdl.handle.net/11375/16733

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

University of Hong Kong

2. 应鼎阁. Identification of shared extended haplotypes in both population-based studies of complex disease and family-based studies of Mendelian disorders.

Degree: 2013, University of Hong Kong

URL: http://hdl.handle.net/10722/205837

► Recent founder mutations may play important roles in complex diseases and Mendelian disorders. Detecting shared haplotypes of identity by descent (IBD) could facilitate discovery of… (more)

▼ Recent founder mutations may play important roles in complex diseases and Mendelian disorders. Detecting shared haplotypes of identity by descent (IBD) could facilitate discovery of these mutations. Several programs address this such as threshold-based methods on genetic distance and probabilistic model-based methods, but they are usually limited to only detecting pair-wise shared haplotypes and not providing a comparison between cases and controls. In this study, a novel algorithm and a applied software package (HaploShare)is developed to detect extended haplotypes that are shared by multiple individuals, which also allows comparisons between cases and controls. A catalog of haplotypes is firstly generated from healthy controls from the same population and used for phasing genotypes in cases. By accounting for all possible haplotype pairs that could explain the genotypes for each individual in a given haplotype block and possible transitions between blocks, the effect of phase uncertainty on detection power is minimized. In cases, haplotypes shared by pairs are identified and used to detect sharing of these haplotypes by different pairs. A likelihood ratio of a shared haplotype due to IBD or chance is estimated for each extended haplotype. Controls are used similarly through many rounds of simulations to obtain an empirical null distribution of the largest likelihood ratios of shared haplotypes, to give statistical estimates of shared haplotypes detected in cases that may be associated with an underlying disease. Series of tests were performed to investigate the performance of HaploShare. Simulations of shared haplotypes demonstrated that HaploShare has better power not only on the detection of pair-wise shared haplotypes but multiple shared haplotypes in most of the simulation scenarios, comparing with other four commonly used programs. False positive rate (FPR) and the false discovery rate (FDR) were also evaluated by statistical calculation. According to the result, both of the two values were extremely low (FPR = 6.28x10-6 , FDR = 0.006), indicating that very few randomly shared haplotypes can be wrongly reported as IBD by HaploShare. HaploShare was also tested on real cases on population data and family linkage analysis. 14 out of 173 Hirschsprung's disease cases were reported by HaploShare of carrying a common haplotype of 250 kb in length, which was consistent with previous findings by direct genotyping and candidate approach. Another testing case is an affected family with 8 cases and 9 unaffected individuals. Disease linked region can be correctly identified by traditional methods if all the data and the entire pedigree were provided. HaploShare showed the ability to locate the shared region even when very limited cases are available, which is clearly beyond the detection power of traditional methods. The results from empirical simulations and real case applications indicate that HaploShare could effectively make use of population genotype information to improve the power of detection of shared…

Subjects/Keywords: Genetic disorders

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APA (6^th Edition):

应鼎阁. (2013). Identification of shared extended haplotypes in both population-based studies of complex disease and family-based studies of Mendelian disorders. (Thesis). University of Hong Kong. Retrieved from http://hdl.handle.net/10722/205837

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

Chicago Manual of Style (16^th Edition):

应鼎阁. “Identification of shared extended haplotypes in both population-based studies of complex disease and family-based studies of Mendelian disorders.” 2013. Thesis, University of Hong Kong. Accessed April 15, 2021. http://hdl.handle.net/10722/205837.

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

MLA Handbook (7^th Edition):

应鼎阁. “Identification of shared extended haplotypes in both population-based studies of complex disease and family-based studies of Mendelian disorders.” 2013. Web. 15 Apr 2021.

Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete

Vancouver:

应鼎阁. Identification of shared extended haplotypes in both population-based studies of complex disease and family-based studies of Mendelian disorders. [Internet] [Thesis]. University of Hong Kong; 2013. [cited 2021 Apr 15]. Available from: http://hdl.handle.net/10722/205837.

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

Council of Science Editors:

应鼎阁. Identification of shared extended haplotypes in both population-based studies of complex disease and family-based studies of Mendelian disorders. [Thesis]. University of Hong Kong; 2013. Available from: http://hdl.handle.net/10722/205837

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

University of Hong Kong

3. Zhang, Lu. Identification and prioritization of single nucleotide variation for Mendelian disorders from whole exome sequencing data.

Degree: 2012, University of Hong Kong

URL: http://hdl.handle.net/10722/179999

► With the completion of human genome sequencing project and the rapid development of sequencing technologies, our capacity in tackling with genetic and genomic changes that… (more)

▼ With the completion of human genome sequencing project and the rapid development of sequencing technologies, our capacity in tackling with genetic and genomic changes that underlie human diseases has never been greater. The recent successes in identifying disease causal single nucleotide variations (SNVs) for Mendelian disorders using whole exome sequencing may bring us one step further to understand the pathogenesis of Mendelian diseases. However, many hurdles need to be overcome before the promises can become widespread reality. In this study, we investigated various strategies and designed a toolkit named PriSNV for SNV identification and prioritization, respectively. The SNV identification pipeline including read alignment, PCR duplication removal, indel realignment, base quality score recalibration, SNV and genotype calling was examined by simulation and real sequencing data. By incorporating sequencing errors and small indels, most of the read alignment software can achieve satisfied results. Nonetheless, the reads with medium size and large indels are prone to be wrongly mapped to the reference genome due to the limitation of gap opening strategies of available read alignment software. In addition, although mapping quality can only reflect certain information of the mapping error rate, it is still important to be adopted to filter out obvious read alignment errors. The PCR duplication removal, indel realignment and base quality score recalibration have proven to be necessary and can substantially reduce the false positive SNV calls. Based on the same quality criterion, Varscan performs as the most sensitive software for SNV calling, unfortunately at mean time the false positive calls are enriched in its result. In order to prioritize the small subset of functionally important variants from tens of thousands of variants in whole human exome, we developed a toolkit called PriSNV, a systematic prioritization pipeline that makes use of information on variant quality, gene candidacy based on the number of novel nonsynonymous mutations in a gene, gene functional annotation, known involvement in the disease or relevant pathways, and location in linkage regions. Prediction of functional impact of the coding variants is also used to aid the search for causal mutations in Mendelian disorders. For the patient affected by Chron's disease, the candidate genes can be substantially reduced from 9615 to 3 by the gene selection strategies implemented in PriSNV. In general, our results for SNV identification can help the biologists to realize the limitation of available software and shed light on the development of new strategies for accurately identifying SNV calls in the future. PriSNV, the software we developed for SNV prioritization, can provide significant help to biologists in prioritizing SNV calls in a systematic way and reducing search space for further analysis and experimental verification. Advisors/Committee Members: Yang, W (advisor), Lau, YL (advisor).

Subjects/Keywords: Genetic disorders.

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APA (6^th Edition):

Zhang, L. (2012). Identification and prioritization of single nucleotide variation for Mendelian disorders from whole exome sequencing data. (Thesis). University of Hong Kong. Retrieved from http://hdl.handle.net/10722/179999

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):

Zhang, Lu. “Identification and prioritization of single nucleotide variation for Mendelian disorders from whole exome sequencing data.” 2012. Thesis, University of Hong Kong. Accessed April 15, 2021. http://hdl.handle.net/10722/179999.

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

MLA Handbook (7^th Edition):

Zhang, Lu. “Identification and prioritization of single nucleotide variation for Mendelian disorders from whole exome sequencing data.” 2012. Web. 15 Apr 2021.

Vancouver:

Zhang L. Identification and prioritization of single nucleotide variation for Mendelian disorders from whole exome sequencing data. [Internet] [Thesis]. University of Hong Kong; 2012. [cited 2021 Apr 15]. Available from: http://hdl.handle.net/10722/179999.

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

Council of Science Editors:

Zhang L. Identification and prioritization of single nucleotide variation for Mendelian disorders from whole exome sequencing data. [Thesis]. University of Hong Kong; 2012. Available from: http://hdl.handle.net/10722/179999

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

Brandeis University

4. Jackson, Meghan. Genetic Disorders with Psychiatric Manifestations: A Survey of Genetic Counselors.

Degree: 2011, Brandeis University

URL: http://hdl.handle.net/10192/24358

► In recent years it has become recognized that many genetic disorders, such as VCFS, may include psychiatric manifestations as part of the phenotype. Individuals diagnosed… (more)

▼ In recent years it has become recognized that many genetic disorders, such as VCFS, may include psychiatric manifestations as part of the phenotype. Individuals diagnosed with one of these disorders have an increased risk to develop psychiatric illness in childhood or as adults. Previous research by Sachs (2008) demonstrated that parents of children with VCFS preferred to learn about the risk of psychiatric illness from a medical provider at the time that the diagnosis is made. However, in practice many of the parents learned about the increased risk for psychiatric conditions through the internet. In the current study, we wished to explore the opinions and practices of genetic counselors regarding the disclosure of risk for psychiatric illness that accompanies VCFS, Klinefelter syndrome, Prader-Willi and Williams syndrome. We recruited prenatal and pediatric genetic counselors through the NSGC listserv to complete an anonymous, online survey that included multiple choice and Likert-scale questions. A total of 42 prenatal and 38 pediatric counselors completed the survey, for a total of 80 responses. Overall, the prenatal counselors were more likely than the pediatric counselors to discuss the risk to develop psychiatric illness with families. However, the prenatal counselors reported that they often only mention the increased risk to families while the pediatric counselors reported they were more likely to discuss details, such as treatment options, diagnostic criteria and natural history. Our participants reported that if there were better treatment and/or preventative options to offer families they would feel more comfortable discussing the risk with families. Interestingly, the respondents reported that the ability to offer predictive genetic testing for mental illness would not have a major impact on their likelihood to discuss the increased risk. Our findings suggest that future efforts should focus on increasing counselors’ knowledge of and comfort regarding mental illness.

Subjects/Keywords: Genetic Counseling; Mental Illness; Genetic Disorders

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APA (6^th Edition):

Jackson, M. (2011). Genetic Disorders with Psychiatric Manifestations: A Survey of Genetic Counselors. (Thesis). Brandeis University. Retrieved from http://hdl.handle.net/10192/24358

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):

Jackson, Meghan. “Genetic Disorders with Psychiatric Manifestations: A Survey of Genetic Counselors.” 2011. Thesis, Brandeis University. Accessed April 15, 2021. http://hdl.handle.net/10192/24358.

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

MLA Handbook (7^th Edition):

Jackson, Meghan. “Genetic Disorders with Psychiatric Manifestations: A Survey of Genetic Counselors.” 2011. Web. 15 Apr 2021.

Vancouver:

Jackson M. Genetic Disorders with Psychiatric Manifestations: A Survey of Genetic Counselors. [Internet] [Thesis]. Brandeis University; 2011. [cited 2021 Apr 15]. Available from: http://hdl.handle.net/10192/24358.

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

Council of Science Editors:

Jackson M. Genetic Disorders with Psychiatric Manifestations: A Survey of Genetic Counselors. [Thesis]. Brandeis University; 2011. Available from: http://hdl.handle.net/10192/24358

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

Stellenbosch University

5. Jordaan, Beatrice. Ethical dilemmas in Gaucher disease.

Degree: MA, Philosophy, 2017, Stellenbosch University

URL: http://hdl.handle.net/10019.1/101388

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ENGLISH ABSTRACT: Gaucher disease (GD) is a rare and chronic, genetic disorder which presents immensely challenging ethical dilemmas for patients and families. Important is the… (more)

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ENGLISH ABSTRACT: Gaucher disease (GD) is a rare and chronic, genetic disorder which presents immensely challenging ethical dilemmas for patients and families. Important is the high-cost, high-benefit, but low volume treatment for Gaucher disease, which creates incessant resource allocation dilemmas for healthcare professionals and policy makers and lack of access to care for patients. Apart from expenditure, Gaucher disease provokes numerous other ethical dilemmas including genetic screening, disclosure of genetic information and abortion. These issues pose important social and ethical challenges to the discipline of biomedical ethics. This study seeks to interrogate some of these burning ethical dilemmas. By means of a fictional biomedical ethics case report which deals with a pregnant patient subsequently diagnosed with the rare Gaucher disease, it simulates and highlights some of the numerous ethical dilemmas that a pregnant Type 1 Gaucher disease patient may have to ultimately contend with. This study will attempt to illuminate ideas of ring fencing resources for patients with rare or orphan diseases in a resource restricted developing country like South Africa. It will also attempt to provide some guidance when dealing with some of the other burning ethical issues related to Gaucher disease, which includes genetic screening, disclosure of genetic information and abortion.

AFRIKAANSE OPSOMMING: Gaucher siekte (GS) is a seldsame en kroniese genetiese siektetoestand wat uiters uitdagende etiese dilemmas vir pasiënte en hul families kan veroorsaak. Van besondere belang vir pasiënte, lede van die mediese professie, sowel as beleidskeppers, is die hoë koste, hoë voordeel, maar lae volume behandeling vir Gaucher siekte wat onvermydelike dilemmas veral met betrekking tot veral die toekenning van finansiële hulpbronne kan veroorsaak. Bo-en-behalwe dié uitgawes, ontketen Gaucher siekte verskeie ander etiese dilemmas, insluitend genetiese- toetsing en skandering, die bekendmaking van genetiese inligting, asook aborsie. Hierdie dilemmas kan belangrike sosiale en etiese uitdagings vir die vakgebied biomediese etiek teweegbring. Die tesis ondersoek sommige van die mees algemene etiese dilemmas. Deur middel van ‘n fiktiewe biomediese en etiese gevallestudie met betrekking tot ‘n swanger pasiënt gediagnoseer met die seldsame Gaucher siekte, word verskeie etiese dilemmas, waarmee ‘n swanger pasiënt, wat gediagnoseer is met tipe 1 Gaucher siekte, moontlik gekonfronteer kan word, aangeraak. Hierdie studie poog om, veral in ‘n ontwikkelende land soos Suid-Afrika met beperkte hulpbronne , nuwe idees uit te lig wat moontlik finansiële bronne beskikbaar kan stel vir pasiënte met seldsame of wees siektetoestande. Die studie sal ook poog om verdere riglyne te verskaf aangaande ander kwellende etiese dilemmas wat moontlik mag gepaardgaan met Gaucher siekte soos genetiese toetsing, die bekendmaking van genetiese inligting, asook aborsie.

Advisors/Committee Members: Kruger, Mariana, Stellenbosch University. Faculty of Arts and Social Sciences. Dept. of Philosophy..

Subjects/Keywords: Dilemmas, Ethical; Gaucher's disease; Genetic disorders; UCTD

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

APA (6^th Edition):

Jordaan, B. (2017). Ethical dilemmas in Gaucher disease. (Masters Thesis). Stellenbosch University. Retrieved from http://hdl.handle.net/10019.1/101388

Chicago Manual of Style (16^th Edition):

Jordaan, Beatrice. “Ethical dilemmas in Gaucher disease.” 2017. Masters Thesis, Stellenbosch University. Accessed April 15, 2021. http://hdl.handle.net/10019.1/101388.

MLA Handbook (7^th Edition):

Jordaan, Beatrice. “Ethical dilemmas in Gaucher disease.” 2017. Web. 15 Apr 2021.

Vancouver:

Jordaan B. Ethical dilemmas in Gaucher disease. [Internet] [Masters thesis]. Stellenbosch University; 2017. [cited 2021 Apr 15]. Available from: http://hdl.handle.net/10019.1/101388.

Council of Science Editors:

Jordaan B. Ethical dilemmas in Gaucher disease. [Masters Thesis]. Stellenbosch University; 2017. Available from: http://hdl.handle.net/10019.1/101388

University College London (University of London)

6. Duke, Veronique Michal. X-linked Kallmann's syndrome : a molecular genetic and developmental analysis.

Degree: PhD, 1996, University College London (University of London)

URL: https://discovery.ucl.ac.uk/id/eprint/10099880/ ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.338727

► Kallmann's syndrome (KS) is defined as the association of hypogonadotrophic hypogonadism (IHH), caused by hypothalamic gonadotrophin releasing hormone (GnRH) deficiency, and anosmia, due to malformation… (more)

▼ Kallmann's syndrome (KS) is defined as the association of hypogonadotrophic hypogonadism (IHH), caused by hypothalamic gonadotrophin releasing hormone (GnRH) deficiency, and anosmia, due to malformation of the olfactory bulbs and tracts. Patients most commonly present with delayed puberty and may also present in childhood with cryptorchidism. Renal agenesis seen in 40% and synkinesis observed in up to 90[percent] of patients with X-linked KS (XKS) are likely to originate in the aberrant expression of KAL (Xp22.3) during early foetal development. Failure of the olfactory axons in the accessory olfactory nerves to project through the cribriform plate and establish synaptic contact with the developing olfactory bulb is thought to be central to the pathogenesis of these clinical features. GnRH neurons originating in the primitive nasal area consequently fail to migrate into the forebrain because of the absence of the "scaffolding" provided by these olfactory nerves. This study has examined areas of KAL protein (680 amino acid protein containing a signal peptide but no membrane insertion or anchorage sequence, suggesting that this is a secreted protein) expression in the developing foetus and adult using anti-protein peptide antibodies generated in mice. A short sequence of the putative KAL sequence was used to synthesise a multiple antigenic peptide, which was then used as the antigen. Due to the non specificity of these antibodies the areas and stages of KAL gene expression were further investigated using in situ hybridisation and reverse transcriptase polymerase chain reaction (RT-PCR) on first trimester foetal tissue. This revealed KAL transcript in the olfactory bulbs, neuroretina and developing kidney. Patients with XKS and sporadic KS were investigated for mutations in KAL using established molecular biology techniques including PCR, direct DNA sequencing and single stranded conformational polymorphism (SSCP). Previously characterised mutations were confirmed and two new mutations identified. Using restriction fragment length polymorphism (RFLP) analysis, a methodology was established to successfully screen XKS earners in a selection of patient pedigrees.

Subjects/Keywords: 610; Genetic disorders

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APA (6^th Edition):

Duke, V. M. (1996). X-linked Kallmann's syndrome : a molecular genetic and developmental analysis. (Doctoral Dissertation). University College London (University of London). Retrieved from https://discovery.ucl.ac.uk/id/eprint/10099880/ ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.338727

Chicago Manual of Style (16^th Edition):

Duke, Veronique Michal. “X-linked Kallmann's syndrome : a molecular genetic and developmental analysis.” 1996. Doctoral Dissertation, University College London (University of London). Accessed April 15, 2021. https://discovery.ucl.ac.uk/id/eprint/10099880/ ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.338727.

MLA Handbook (7^th Edition):

Duke, Veronique Michal. “X-linked Kallmann's syndrome : a molecular genetic and developmental analysis.” 1996. Web. 15 Apr 2021.

Vancouver:

Duke VM. X-linked Kallmann's syndrome : a molecular genetic and developmental analysis. [Internet] [Doctoral dissertation]. University College London (University of London); 1996. [cited 2021 Apr 15]. Available from: https://discovery.ucl.ac.uk/id/eprint/10099880/ ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.338727.

Council of Science Editors:

Duke VM. X-linked Kallmann's syndrome : a molecular genetic and developmental analysis. [Doctoral Dissertation]. University College London (University of London); 1996. Available from: https://discovery.ucl.ac.uk/id/eprint/10099880/ ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.338727

7. Jiang, Yi. Using network clustering to predict copy number variations associated with health disparities.

Degree: 2014, University of Tennessee – Chattanooga

URL: https://scholar.utc.edu/theses/144

► Substantial health disparities exist between African Americans and Caucasians in the United States. Copy number variations (CNVs) are one form of human genetic variations that… (more)

Subjects/Keywords: Bioinformatics; Variation (Biology); Human genetics; Genetic disorders

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APA (6^th Edition):

Jiang, Y. (2014). Using network clustering to predict copy number variations associated with health disparities. (Masters Thesis). University of Tennessee – Chattanooga. Retrieved from https://scholar.utc.edu/theses/144

Chicago Manual of Style (16^th Edition):

Jiang, Yi. “Using network clustering to predict copy number variations associated with health disparities.” 2014. Masters Thesis, University of Tennessee – Chattanooga. Accessed April 15, 2021. https://scholar.utc.edu/theses/144.

MLA Handbook (7^th Edition):

Jiang, Yi. “Using network clustering to predict copy number variations associated with health disparities.” 2014. Web. 15 Apr 2021.

Vancouver:

Jiang Y. Using network clustering to predict copy number variations associated with health disparities. [Internet] [Masters thesis]. University of Tennessee – Chattanooga; 2014. [cited 2021 Apr 15]. Available from: https://scholar.utc.edu/theses/144.

Council of Science Editors:

Jiang Y. Using network clustering to predict copy number variations associated with health disparities. [Masters Thesis]. University of Tennessee – Chattanooga; 2014. Available from: https://scholar.utc.edu/theses/144

University of Hong Kong

8. 葉本志. Uses of short tandem repeats in the diagnosis of genetic diseases.

Degree: 1997, University of Hong Kong

URL: http://hdl.handle.net/10722/33559

Subjects/Keywords: Genetic disorders - Diagnosis.

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APA (6^th Edition):

葉本志. (1997). Uses of short tandem repeats in the diagnosis of genetic diseases. (Thesis). University of Hong Kong. Retrieved from http://hdl.handle.net/10722/33559

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

Chicago Manual of Style (16^th Edition):

葉本志. “Uses of short tandem repeats in the diagnosis of genetic diseases.” 1997. Thesis, University of Hong Kong. Accessed April 15, 2021. http://hdl.handle.net/10722/33559.

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

MLA Handbook (7^th Edition):

葉本志. “Uses of short tandem repeats in the diagnosis of genetic diseases.” 1997. Web. 15 Apr 2021.

Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete

Vancouver:

葉本志. Uses of short tandem repeats in the diagnosis of genetic diseases. [Internet] [Thesis]. University of Hong Kong; 1997. [cited 2021 Apr 15]. Available from: http://hdl.handle.net/10722/33559.

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

Council of Science Editors:

葉本志. Uses of short tandem repeats in the diagnosis of genetic diseases. [Thesis]. University of Hong Kong; 1997. Available from: http://hdl.handle.net/10722/33559

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

University of Wisconsin – Milwaukee

9. van der Fluit, Faye. Autism Spectrum Disorder Symptomatology in Verbal Children with Williams Syndrome.

Degree: PhD, Psychology, 2014, University of Wisconsin – Milwaukee

URL: https://dc.uwm.edu/etd/772

► Many genetic disorders of known etiology share behavioral characteristic with the autism spectrum disorders (ASD), including language delays, social difficulties, and unusual patterns of… (more)

Subjects/Keywords: Autism Spectrum Disorders; Genetic Disorders; Williams Syndrome; Psychology

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APA (6^th Edition):

van der Fluit, F. (2014). Autism Spectrum Disorder Symptomatology in Verbal Children with Williams Syndrome. (Doctoral Dissertation). University of Wisconsin – Milwaukee. Retrieved from https://dc.uwm.edu/etd/772

Chicago Manual of Style (16^th Edition):

van der Fluit, Faye. “Autism Spectrum Disorder Symptomatology in Verbal Children with Williams Syndrome.” 2014. Doctoral Dissertation, University of Wisconsin – Milwaukee. Accessed April 15, 2021. https://dc.uwm.edu/etd/772.

MLA Handbook (7^th Edition):

van der Fluit, Faye. “Autism Spectrum Disorder Symptomatology in Verbal Children with Williams Syndrome.” 2014. Web. 15 Apr 2021.

Vancouver:

van der Fluit F. Autism Spectrum Disorder Symptomatology in Verbal Children with Williams Syndrome. [Internet] [Doctoral dissertation]. University of Wisconsin – Milwaukee; 2014. [cited 2021 Apr 15]. Available from: https://dc.uwm.edu/etd/772.

Council of Science Editors:

van der Fluit F. Autism Spectrum Disorder Symptomatology in Verbal Children with Williams Syndrome. [Doctoral Dissertation]. University of Wisconsin – Milwaukee; 2014. Available from: https://dc.uwm.edu/etd/772

Michigan State University

10. Jones, Nicole M. Apolipoprotein E as an hereditary risk factor for nondisjunction : a feasibility study.

Degree: MS, 2002, Michigan State University

URL: http://etd.lib.msu.edu/islandora/object/etd:31607

Subjects/Keywords: Trisomy; Chromosome disorders; Genetic disorders

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APA (6^th Edition):

Jones, N. M. (2002). Apolipoprotein E as an hereditary risk factor for nondisjunction : a feasibility study. (Masters Thesis). Michigan State University. Retrieved from http://etd.lib.msu.edu/islandora/object/etd:31607

Chicago Manual of Style (16^th Edition):

Jones, Nicole M. “Apolipoprotein E as an hereditary risk factor for nondisjunction : a feasibility study.” 2002. Masters Thesis, Michigan State University. Accessed April 15, 2021. http://etd.lib.msu.edu/islandora/object/etd:31607.

MLA Handbook (7^th Edition):

Jones, Nicole M. “Apolipoprotein E as an hereditary risk factor for nondisjunction : a feasibility study.” 2002. Web. 15 Apr 2021.

Vancouver:

Jones NM. Apolipoprotein E as an hereditary risk factor for nondisjunction : a feasibility study. [Internet] [Masters thesis]. Michigan State University; 2002. [cited 2021 Apr 15]. Available from: http://etd.lib.msu.edu/islandora/object/etd:31607.

Council of Science Editors:

Jones NM. Apolipoprotein E as an hereditary risk factor for nondisjunction : a feasibility study. [Masters Thesis]. Michigan State University; 2002. Available from: http://etd.lib.msu.edu/islandora/object/etd:31607

Drexel University

11. Xie, Sherlly. Family Neurologic and Psychiatric History and the Risk of Autism Spectrum Disorder.

Degree: 2018, Drexel University

URL: https://idea.library.drexel.edu/islandora/object/idea%3A8279

► Objective: In this dissertation, we aimed to determine: 1). familial recurrence risk of autism spectrum disorder (ASD) with and without intellectual disability (ID), as well… (more)

▼ Objective: In this dissertation, we aimed to determine: 1). familial recurrence risk of autism spectrum disorder (ASD) with and without intellectual disability (ID), as well as 2). risk of these ASD subtypes associated with family history of mental and neurologic disorders. Study design: We conducted a population-based cohort study for each research aim. Index persons (IPs) through whom families were identified (n = 567,436) were non-adopted singleton births identified from the Stockholm Youth Cohort, who were born between 1984 and 2009 in Stockholm County, Sweden, could be linked to both biological parents, and had resided in Stockholm County for at least 2 years at the end of follow-up. The Multi-Generation Register was used to determine family relations for each IP up to four degrees of relatedness. Diagnoses data were ascertained from regional and national registers using International Classification of Diseases and Diagnosis and Statistical Manual of Mental Disorders codes, as well as health services records. Methods: Logistic regression with robust standard error was used to estimate the odds ratio of ASD with or without ID in IPs with relative affected vs. unaffected by ASD and other neurologic and psychiatric disorders. Heritability analysis was carried out using structural equation modeling. Results: ASD without ID was more heritable than ASD with ID, broad-sense heritability (95% confidence interval): 61.5% (35.4-88.3%) vs. 25.7% (9.0-57.0%), respectively. ASD without ID was more familial than ASD with ID. The more closely related the affected family member was, the greater the observed risk was of ASD in the IPs, especially for ASD without ID. For example, for IPs with mothers affected by ASD, the IPs' odds of ASD with and without ID increased by 10.8 and 19.6 folds, respectively, whereas for IPs with affected aunts, the odds of ASD with and without ID increased by 1.3 and 1.8 folds, respectively. As for family history of neurologic and psychiatric disorders, ASD without ID was associated with more disorders and generally more strongly compared to ASD with ID, especially for mental disorders. Family history of multiple disorders was associated with greater risk, including history of ASD, ID, attention-deficit/hyperactivity disorder, obsessive compulsive disorder, schizophrenia and other non-affective psychotic disorders, depression, bipolar and personality disorders, cerebral palsy, and epilepsy. Conclusions: Familial risk and heritability of ASD without ID is higher than that of ASD with ID. This implies that risk factors between these phenotypes differ as well. Both of ASD with and without ID variance can be explained by substantial genetic and environmental sources. Also, family history of mental and neurologic disorders is associated with ASD, and this familial risk differs by presence or absence of ID. Our findings encourage us to pursue with examining these phenotypes separately in future ASD risk research and prediction endeavors, and to extend the investigation to extended family members and… Advisors/Committee Members: Lee, Brian, Dana and David Dornsife School of Public Health.

Subjects/Keywords: Epidemiology; Autism spectrum disorders; Intellectual disability; Genetic disorders

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APA (6^th Edition):

Xie, S. (2018). Family Neurologic and Psychiatric History and the Risk of Autism Spectrum Disorder. (Thesis). Drexel University. Retrieved from https://idea.library.drexel.edu/islandora/object/idea%3A8279

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):

Xie, Sherlly. “Family Neurologic and Psychiatric History and the Risk of Autism Spectrum Disorder.” 2018. Thesis, Drexel University. Accessed April 15, 2021. https://idea.library.drexel.edu/islandora/object/idea%3A8279.

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

MLA Handbook (7^th Edition):

Xie, Sherlly. “Family Neurologic and Psychiatric History and the Risk of Autism Spectrum Disorder.” 2018. Web. 15 Apr 2021.

Vancouver:

Xie S. Family Neurologic and Psychiatric History and the Risk of Autism Spectrum Disorder. [Internet] [Thesis]. Drexel University; 2018. [cited 2021 Apr 15]. Available from: https://idea.library.drexel.edu/islandora/object/idea%3A8279.

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

Council of Science Editors:

Xie S. Family Neurologic and Psychiatric History and the Risk of Autism Spectrum Disorder. [Thesis]. Drexel University; 2018. Available from: https://idea.library.drexel.edu/islandora/object/idea%3A8279

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

Brandeis University

12. Hunter, Whitney. Utilization of Genetic Testing Among Children with Autism Spectrum Disorders.

Degree: 2011, Brandeis University

URL: http://hdl.handle.net/10192/24421

► Autism spectrum disorders (ASDs) which include autistic disorder, Asperger disorder and pervasive developmental disorder-not otherwise specified (PDD-NOS) have gained significant attention because of an apparent… (more)

▼ Autism spectrum disorders (ASDs) which include autistic disorder, Asperger disorder and pervasive developmental disorder-not otherwise specified (PDD-NOS) have gained significant attention because of an apparent increase in incidence. The etiology of ASDs has been an ongoing research endeavor, but compelling data thus far suggest a genetic basis. Several professional organizations, including the American Academy of Pediatrics and the American College of Medical Genetics, recommend genetic testing of children affected with ASDs. However, previous research suggests many children with ASDs are not receiving genetic services. The aim of the current study was to analyze data collected by the Autism Consortium, a collaborative research effort based in Boston, Massachusetts, regarding the frequency of genetic testing among children with ASDs. Specifically, we looked at medical, family and genetic testing histories that were collected between 2006 and 2010, to assess genetic test utilization and to identify factors v influencing receipt of genetic testing. In accordance with other studies, we found that approximately 50% of the 485 research participants did not receive genetic testing. Individuals with autistic disorder or PDD-NOS were more likely to have obtained genetic testing than individuals with Asperger disorder. Accompanying intellectual disability or seizures in the child and/or a family history of intellectual disability increased the likelihood that a child with an ASD would receive genetic testing. However, having a sibling with an ASD or a family history of ASDs did not increase the likelihood of obtaining genetic testing. It is unclear whether the reduced rates of testing overall were due to decision making on the part of the medical providers or the parents. Future research to elucidate the reasons for this lack of testing might lead to an improved ability to educate both care providers and families about the importance of genetic testing for this population.

Subjects/Keywords: Genetic Testing; Autism Spectrum Disorders; Predictors of Genetic Testing

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APA (6^th Edition):

Hunter, W. (2011). Utilization of Genetic Testing Among Children with Autism Spectrum Disorders. (Thesis). Brandeis University. Retrieved from http://hdl.handle.net/10192/24421

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):

Hunter, Whitney. “Utilization of Genetic Testing Among Children with Autism Spectrum Disorders.” 2011. Thesis, Brandeis University. Accessed April 15, 2021. http://hdl.handle.net/10192/24421.

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

MLA Handbook (7^th Edition):

Hunter, Whitney. “Utilization of Genetic Testing Among Children with Autism Spectrum Disorders.” 2011. Web. 15 Apr 2021.

Vancouver:

Hunter W. Utilization of Genetic Testing Among Children with Autism Spectrum Disorders. [Internet] [Thesis]. Brandeis University; 2011. [cited 2021 Apr 15]. Available from: http://hdl.handle.net/10192/24421.

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

Council of Science Editors:

Hunter W. Utilization of Genetic Testing Among Children with Autism Spectrum Disorders. [Thesis]. Brandeis University; 2011. Available from: http://hdl.handle.net/10192/24421

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

University of Namibia

13. Sankombo, MT. Experiences of parents with congenital abnormalities at Oshakati Intermediate hospital, Oshana region .

Degree: 2015, University of Namibia

URL: http://hdl.handle.net/11070/1709

► The purpose of this study was to describe and explore the experiences of parents of children with congenital abnormalities and identify source of support such… (more)

▼ The purpose of this study was to describe and explore the experiences of parents of children with congenital abnormalities and identify source of support such parents employ when dealing with the child born with congenital abnormalities. Congenital abnormalities, regardless of the type, pose a concern to the Government, society, immediate family members and individual parents. The expectations parents had for a normal child becomes a nightmare when the child they were expecting is born with a disability. Living with such a child can be stressful for parents and other family members. Therefore, exploring and describing the lived experiences of parents of children born with congenital abnormalities is important in the process of finding ways to assist or support parents to provide proper care for their children. A qualitative, explorative, descriptive and a contextual study design using a phenomenological approach was used for this study. In-depth interviews were conducted with twelve purposefully selected participants from the population of parents of children born with congenital abnormalities. The study was conducted at Intermediate Hospital, Oshakati in Oshana region in north-central Namibia. Data analysis was done using content analysis and it was categorized into four categories with three sub-categories. The study revealed psychological, emotional, social and economic challenges parents endure while raising a child with congenital abnormalities. Psychological and emotional challenges included being stressed by caring tasks and having worries about the present and future life of their children. They were terrified and traumatized by the reactions of some spouses/family members and community who failed to comprehend with the child‘s condition. Social challenges were inadequate social services for their children, such as special schools, specialized health care services, stigma and burden of caring tasks. The economic challenges were poverty, child care interfering with various income generating activities and other extra expenses associated with the child’s condition.

Subjects/Keywords: Congenital abnormalities ; Parents ; Children ; Genetic disorders ; Genetic counseling ; Genetic disorders, Prevention ; Human chromosome abnormalities, Diagnosis ; Abnormalities, Human ; Prenatal diagnosis

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APA (6^th Edition):

Sankombo, M. (2015). Experiences of parents with congenital abnormalities at Oshakati Intermediate hospital, Oshana region . (Thesis). University of Namibia. Retrieved from http://hdl.handle.net/11070/1709

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):

Sankombo, MT. “Experiences of parents with congenital abnormalities at Oshakati Intermediate hospital, Oshana region .” 2015. Thesis, University of Namibia. Accessed April 15, 2021. http://hdl.handle.net/11070/1709.

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

MLA Handbook (7^th Edition):

Sankombo, MT. “Experiences of parents with congenital abnormalities at Oshakati Intermediate hospital, Oshana region .” 2015. Web. 15 Apr 2021.

Vancouver:

Sankombo M. Experiences of parents with congenital abnormalities at Oshakati Intermediate hospital, Oshana region . [Internet] [Thesis]. University of Namibia; 2015. [cited 2021 Apr 15]. Available from: http://hdl.handle.net/11070/1709.

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

Council of Science Editors:

Sankombo M. Experiences of parents with congenital abnormalities at Oshakati Intermediate hospital, Oshana region . [Thesis]. University of Namibia; 2015. Available from: http://hdl.handle.net/11070/1709

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

University of California – San Diego

14. Petkus, Andrew John. Anxiety and Cognition in Swedish Twins : : Genetic and Environmental Influences.

Degree: Clinical psychology, 2014, University of California – San Diego

URL: http://www.escholarship.org/uc/item/0g3523r9

► Introduction : Cognitive impairment and anxiety disorders are the two most common psychiatric disorders in later life. These problems commonly co-occur and are associated with… (more)

▼ Introduction : Cognitive impairment and anxiety disorders are the two most common psychiatric disorders in later life. These problems commonly co-occur and are associated with a range of negative outcomes such as increased functional impairment, greater healthcare utilization, and elevated risk of nursing home placement. Little research has examined the stability of genetic influences on anxiety symptoms in older adults. Similarly, the temporal dynamics of the relationship between cognitive performance and anxiety as well as the extent to which shared genetic factors explain this association is unclear. The specific goals of this dissertation were to (1) explore the stability of genetic and environmental influences on anxiety in older adulthood, (2) explore the extent to which genetic factors influencing anxiety are also influencing cognitive performance, (3) determine the temporal dynamics of this phenotypic association, and (4) examine the extent to which genetic and environmental factors were driving this association over time. Design : We examined data from the Swedish Adoption/Twin Study of Aging (SATSA). Between the years 1984 - 2007, 2,018 participants aged 31-98 years completed as many as 7 assessments which included measures of anxiety and cognitive performance. For aim 1, genetic simplex models were fit to examine the stability of genetic and environmental influences on anxiety later in life. For the second aim bivariate Cholesky decompositions were conducted to examine the extent to which shared genetic influences explained the association between anxiety and cognitive performance. For aim 3 we examined the temporal dynamics of the association between anxiety and cognitive performance by fitting bivariate dual change score models (DCSM). For the last aim biometric DCSM models were estimated to examine the temporal dynamics of genetic and environmental contributions. Results : New genetic contributions to the etiology of anxiety were found beginning at the ages 60-64. New significant unique environmental factors contributed to anxiety symptoms starting after age 70. For aim 2, in males anxiety was associated with worse nonverbal memory, attention, working memory, and aspects of spatial performance. Anxiety was only associated with worse visuospatial performance and picture memory in females. For males, shared genetic factors were mostly explaining this association. For females unique environmental factors were explaining this association. When examining this association over time, across all cognitive tests worse cognitive performance was a leading indicator of change in anxiety. Anxiety was not associated with subsequent changes in cognitive performance. The biometric models suggested that genetic factors contributing to variance in processing speed and attention were driving variation in anxiety over time. Unique environmental contributions to spatial abilities were driving subsequent variation in anxiety. Conclusions : The findings from these four studies deepen our understanding of the etiology of late…

Subjects/Keywords: Anxiety disorders Age factors; Cognition disorders Age factors; Anxiety disorders Genetic aspects; Cognition disorders Genetic aspects; Anxiety disorders Environmental aspects; Cognition disorders Environmental aspects; Anxiety Disorders etiology Twin Study; Cognition Disorders etiology Twin Study

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APA (6^th Edition):

Petkus, A. J. (2014). Anxiety and Cognition in Swedish Twins : : Genetic and Environmental Influences. (Thesis). University of California – San Diego. Retrieved from http://www.escholarship.org/uc/item/0g3523r9

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):

Petkus, Andrew John. “Anxiety and Cognition in Swedish Twins : : Genetic and Environmental Influences.” 2014. Thesis, University of California – San Diego. Accessed April 15, 2021. http://www.escholarship.org/uc/item/0g3523r9.

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

MLA Handbook (7^th Edition):

Petkus, Andrew John. “Anxiety and Cognition in Swedish Twins : : Genetic and Environmental Influences.” 2014. Web. 15 Apr 2021.

Vancouver:

Petkus AJ. Anxiety and Cognition in Swedish Twins : : Genetic and Environmental Influences. [Internet] [Thesis]. University of California – San Diego; 2014. [cited 2021 Apr 15]. Available from: http://www.escholarship.org/uc/item/0g3523r9.

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

Council of Science Editors:

Petkus AJ. Anxiety and Cognition in Swedish Twins : : Genetic and Environmental Influences. [Thesis]. University of California – San Diego; 2014. Available from: http://www.escholarship.org/uc/item/0g3523r9

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

Stellenbosch University

15. Benecke, Rohan Meerholz. Genetic aetiology of anxiety disorders.

Degree: MSc, Biomedical Sciences, 2016, Stellenbosch University

URL: http://hdl.handle.net/10019.1/100444

►

ENGLISH SUMMARY: Anxiety disorders are among the most prevalent psychiatric disorders among both adults and adolescents. Comorbidity with other psychiatric disorders, including other anxiety disorders,… (more)

▼

ENGLISH SUMMARY: Anxiety disorders are among the most prevalent psychiatric disorders among both adults and adolescents. Comorbidity with other psychiatric disorders, including other anxiety disorders, is common and it is clear that a high degree of burden of distress and impairment is associated with the condition. Substantial evidence has been presented to suggest a strong genetic component in the aetiology of anxiety disorders. Twin and family studies suggest that panic disorder, general anxiety disorder, phobias and obsessive-compulsive disorder (OCD) aggregate in families. Twin studies in particular shown greater intrapair resemblance between monozygotic twins compared to dizygotic twins, suggesting a strong genetic component. Several genes have been implicated in the genetic aetiology of anxiety disorders, the most prominent of which are BDNF and SCL6A4. Furthermore, the role of the HPA axis in the regulation of the normal response to fear and stress may be influenced by genes contributing to cortisol functions such as FKBP5 and CRHR1. The severity of childhood trauma can contribute to the development of anxiety disorders by modulating gene expression. In this study anxiety sensitivity (AS) is investigated as a possible predictive marker for development of anxiety disorders. Adolescents (13-18 years of age) were recruited from senior secondary schools in the Cape Town area of the Western Cape. Participants were subjected to psychological screening, which included the childhood anxiety sensitivity index (CASI) as well as the childhood trauma questionnaire (CTQ), and saliva samples were collected and genotyping conducted. Gene-environment (G × E) interactions, focussing on the severity of childhood trauma and selected genetic variants, were investigated to determine how levels of AS in a South African adolescent population were modulated. Our cohort consisted of predominantly Xhosa and Coloured individuals and analysis was done on both ethnic groups separately. Significant findings in FKBP5 and CRHR1 in males of both ethnic groups suggests sex linked effect in genes regulating cortisol function. The severity of childhood trauma was found to modulate selected variants which is in line with previous literature. AS may be seen as a precursor to the development of anxiety- and anxiety-related disorders, and a potential clinical marker for early diagnoses of anxiety disorders.

AFRIKAANSE OPSOMMING: Angsversteurings is een van die mees algemene psigiatriese versteurings onder beide volwassenes en tieners. Medemorbiditeit met ander psigiatriese versteurings asook medemorbiditeit onder angsversteurings is algemeen. Verder is dit duidelik dat 'n hoë graad van las van nood en gebrek verband hou met die lyding van angsversteurings. ‘n Aansienlike hoeveelheid bewyse is beskikbaar in die literatuur dat daar 'n sterk genetiese komponent as deel van die etiologie van angsversteurings bestaan. Tweeling en familie studies dui daarop dat paniekversteuring, algemene angsversteuring, fobies en obsessiewe kompulsiewe versteuring…

Advisors/Committee Members: Hemmings, Sian, Seedat, Soraya, Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Biomedical Sciences: Molecular Biology and Human Genetics..

Subjects/Keywords: Anxiety disorders – Etiology; Anxiety disorders – Genetic aspects; Childhood trauma; Anxiety sensitivity; Cortisol; UCTD

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APA (6^th Edition):

Benecke, R. M. (2016). Genetic aetiology of anxiety disorders. (Masters Thesis). Stellenbosch University. Retrieved from http://hdl.handle.net/10019.1/100444

Chicago Manual of Style (16^th Edition):

Benecke, Rohan Meerholz. “Genetic aetiology of anxiety disorders.” 2016. Masters Thesis, Stellenbosch University. Accessed April 15, 2021. http://hdl.handle.net/10019.1/100444.

MLA Handbook (7^th Edition):

Benecke, Rohan Meerholz. “Genetic aetiology of anxiety disorders.” 2016. Web. 15 Apr 2021.

Vancouver:

Benecke RM. Genetic aetiology of anxiety disorders. [Internet] [Masters thesis]. Stellenbosch University; 2016. [cited 2021 Apr 15]. Available from: http://hdl.handle.net/10019.1/100444.

Council of Science Editors:

Benecke RM. Genetic aetiology of anxiety disorders. [Masters Thesis]. Stellenbosch University; 2016. Available from: http://hdl.handle.net/10019.1/100444

University of Melbourne

16. Brown, Amy. Neurodevelopmental outcomes of children with inherited metabolic disorders.

Degree: 2014, University of Melbourne

URL: http://hdl.handle.net/11343/52829

► Introduction: Inherited metabolic disorders (IMD) are caused by mutations that lead to deficiencies in enzymes or defects in transporters, channels or receptors etc. As a… (more)

▼ Introduction: Inherited metabolic disorders (IMD) are caused by mutations that lead to deficiencies in enzymes or defects in transporters, channels or receptors etc. As a result there is a block in metabolic pathways, triggering toxicities and deficiencies that affect various organs. Their effect on the developing brain has the potential to disrupt neurodevelopment in childhood, and therefore impact upon cognition, behaviour and social skills. Background: An evaluation of the existing literature revealed that I comparison to research on Phenylketonuria, there was a lack of detailed research on neurodevelopmental outcomes of children with other IMD, especially in children diagnosed through newborn screening. More specifically, very few publications include follow up data, did not utilise standardised comprehensive measures and did not consider other environmental factors that may impact on outcomes. A distinct gap was evident in regards to social functioning in children. Aims: The aims of this thesis were (1) to investigate the neurodevelopmental outcomes of children with several inherited metabolic disorders; (2) to explore the impact of having a child with an IMD on parents and how this may affect child outcomes. Method: Children with a confirmed diagnosis of one of the following disorders; glutaric aciduria type I, maple syrup urine disorder, methylmalonic aciduria, propionic aciduria, isovaleric aciduria, glycogen storage disease, very long chain acyl-CoA dehydrogenase deficiency and ornithine transcarbamylase deficiency and their parents were invited to participate in the study. These disorders were targeted to represent a range of disorders (i.e, amino acid, carbohydrate, and fatty acid oxidation disorders) and based on the availability of patients within the hospital. Children underwent a neuropsychological assessment and parents completed questionnaires regarding their behaviour and social skills. Some parents completed questionnaires regarding their own coping, psychological distress and family management. Results: The children in the glutaric aciduria type I follow-up study (all diagnosed through newborn screening) generally showed no evidence of decline in cognitive functioning, however all had impaired fine motor skills and some had problems with speech or language. Children with very long chain acyl-CoA dehydrogenase deficiency diagnosed through newborn screening had mostly normal motor and cognitive functioning, with some evidence for speech or language problems. As a cross sectional group, children demonstrated intact social perception and parents reported mostly average social skills, although some children were experiencing peer problems, hyperactivity and emotional symptoms. On reports of their own functioning, parents reported adequate coping although a small subset of parents reported at risk levels of psychological distress. Parent coping and family functioning were related to some child behaviour and social outcomes. Conclusion: Children with inherited metabolic…

Subjects/Keywords: neuropsychology; genetic diseases; metabolic disorders; inherited metabolic disorders; child development; neurodevelopmental outcomes

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APA (6^th Edition):

Brown, A. (2014). Neurodevelopmental outcomes of children with inherited metabolic disorders. (Doctoral Dissertation). University of Melbourne. Retrieved from http://hdl.handle.net/11343/52829

Chicago Manual of Style (16^th Edition):

Brown, Amy. “Neurodevelopmental outcomes of children with inherited metabolic disorders.” 2014. Doctoral Dissertation, University of Melbourne. Accessed April 15, 2021. http://hdl.handle.net/11343/52829.

MLA Handbook (7^th Edition):

Brown, Amy. “Neurodevelopmental outcomes of children with inherited metabolic disorders.” 2014. Web. 15 Apr 2021.

Vancouver:

Brown A. Neurodevelopmental outcomes of children with inherited metabolic disorders. [Internet] [Doctoral dissertation]. University of Melbourne; 2014. [cited 2021 Apr 15]. Available from: http://hdl.handle.net/11343/52829.

Council of Science Editors:

Brown A. Neurodevelopmental outcomes of children with inherited metabolic disorders. [Doctoral Dissertation]. University of Melbourne; 2014. Available from: http://hdl.handle.net/11343/52829

Swedish University of Agricultural Sciences

17. Wang, Shizhi. International breeding programs to improve health in pedigree dogs.

Degree: 2018, Swedish University of Agricultural Sciences

URL: https://pub.epsilon.slu.se/15497/

► Implementation of breeding programs in order to reduce incidence of inherited disorders and their impact on welfare should be a priority for dog breeders and… (more)

Subjects/Keywords: dogs; genetic disorders; hip dysplasia; surveys; genetic variation; animal breeding; Canine; Inherited disorders; Hip dysplasia; Survey; Genetic variability; Genetic evaluation; Stochastic simulation; Breeding program

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APA (6^th Edition):

Wang, S. (2018). International breeding programs to improve health in pedigree dogs. (Doctoral Dissertation). Swedish University of Agricultural Sciences. Retrieved from https://pub.epsilon.slu.se/15497/

Chicago Manual of Style (16^th Edition):

Wang, Shizhi. “International breeding programs to improve health in pedigree dogs.” 2018. Doctoral Dissertation, Swedish University of Agricultural Sciences. Accessed April 15, 2021. https://pub.epsilon.slu.se/15497/.

MLA Handbook (7^th Edition):

Wang, Shizhi. “International breeding programs to improve health in pedigree dogs.” 2018. Web. 15 Apr 2021.

Vancouver:

Wang S. International breeding programs to improve health in pedigree dogs. [Internet] [Doctoral dissertation]. Swedish University of Agricultural Sciences; 2018. [cited 2021 Apr 15]. Available from: https://pub.epsilon.slu.se/15497/.

Council of Science Editors:

Wang S. International breeding programs to improve health in pedigree dogs. [Doctoral Dissertation]. Swedish University of Agricultural Sciences; 2018. Available from: https://pub.epsilon.slu.se/15497/

University of Adelaide

18. Tucker, Ben. Zebrafish as a model of genetic disease.

Degree: 2008, University of Adelaide

URL: http://hdl.handle.net/2440/47789

► The zebrafish is rapidly becoming a vital tool in studies of genetic disease. Use of the zebrafish embryo as an experimental model combines the efficiency… (more)

▼ The zebrafish is rapidly becoming a vital tool in studies of genetic disease. Use of the zebrafish embryo as an experimental model combines the efficiency of techniques specific to invertebrates with the human applicability of vertebrate studies, along with a number of other advantages such as optical transparency and high spawn number. Sequencing maps and mutant screen data are available, and gene ontology annotation is progressing. Furthermore, a number of highly important projects are underway to expand the utility of the zebrafish still further (eg. Mutant screens and TILLING projects; see (Lieschke and Currie, 2007) for review). As such the zebrafish has become a vital model organism for study of a variety of genetic defects, toxicology and pharmacological screens etc. These papers trace the development of zebrafish embryos as a model organism for both genetic disease and, as part of this, the development of a relatively high throughput approach to analysing relative levels of apoptosis. The first paper describes the fmr1 gene family in zebrafish (fmr1, and its orthologs fxr1 and fxr2). This paper includes a phylogenetic analysis of the gene family that demonstrates the high conservation between human and zebrafish, in the context of Drosophila. We then describe expression of the genes in the embryo (using in situ hybridisation) and adult (using real time pcr). The conclusions are that the zebrafish is an appropriate model in which to study Fragile X Mental Retardation genetic disease. The second paper builds upon this conclusion and further establishes the appropriateness of the model by recapitulating elements of the disease that had already been modelled in other model organisms. The research is validated using a number of controls. We describe a number of original findings that extended the body of knowledge regarding pharmacological rescue of the FMRP loss phenotypes. A craniofacial phenotype is identified, the first such discovery in a model of Fragile X syndrome. These findings are a vital step toward understanding the pathway from gene, to molecular phenotype, to cellular morphology, to gross morphology. As part of these studies, we found it necessary to analyse apoptosis. The technique developed to facilitate this analysis is described in our third paper. Given the highly stochastic nature of the apoptotic patterns we developed a method to take full advantage of the characteristics of zebrafish embryos, primarily their transparency and availability in large numbers. As the zebrafish becomes more widely accepted as a model for a diverse range of scientific questions, the development of such a technique is doubly important given the necessity of a cheap, reliable and simple generalizable method of analysing processes affecting cell viability in fish. This has clear importance for pharmacological studies, but is also a long overdue addition to the battery of controls available for highly invasive techniques such as microinjection, in which apoptosis is regularly found among its non specific effects. Advisors/Committee Members: Lardelli, Michael (advisor), Richards, Robert (advisor), School of Molecular and Biomedical Science : Genetics (school).

Subjects/Keywords: Genetic disorders; Zebra danio – Genetic engineering.

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

APA (6^th Edition):

Tucker, B. (2008). Zebrafish as a model of genetic disease. (Thesis). University of Adelaide. Retrieved from http://hdl.handle.net/2440/47789

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):

Tucker, Ben. “Zebrafish as a model of genetic disease.” 2008. Thesis, University of Adelaide. Accessed April 15, 2021. http://hdl.handle.net/2440/47789.

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

MLA Handbook (7^th Edition):

Tucker, Ben. “Zebrafish as a model of genetic disease.” 2008. Web. 15 Apr 2021.

Vancouver:

Tucker B. Zebrafish as a model of genetic disease. [Internet] [Thesis]. University of Adelaide; 2008. [cited 2021 Apr 15]. Available from: http://hdl.handle.net/2440/47789.

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

Council of Science Editors:

Tucker B. Zebrafish as a model of genetic disease. [Thesis]. University of Adelaide; 2008. Available from: http://hdl.handle.net/2440/47789

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

University of Hong Kong

19. So, Po-lam. Overview of parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong and implication for genetic counselling.

Degree: 2015, University of Hong Kong

URL: http://hdl.handle.net/10722/225095

► Objectives With advancement of technology in genetic testing and widespread use of prenatal diagnosis, the prenatal detection of sex chromosome aneuploidies (SCA) is often unavoidable.… (more)

▼ Objectives With advancement of technology in genetic testing and widespread use of prenatal diagnosis, the prenatal detection of sex chromosome aneuploidies (SCA) is often unavoidable. The genetic counselling as well as the parental decision making are challenging because of phenotypic variability of SCA. The objectives of this study were to analyze the impact of antenatal Down syndrome screening practices on the prenatal detection of SCA, report the pregnancy outcomes, evaluate the parental decisions regarding pregnancies with SCA and provide advice on genetic counselling practice to local health professionals. Methods A retrospective cohort study identified all patients with sex chromosome aneuploidies (45,X, 47,XXY, 47,XXX, 47,XYY and mosaicism) diagnosed between 1994 and 2014 from eight public hospitals in Hong Kong. Their medical records from eight public hospitals and Genetic Counselling Clinic of Department of Health were retrieved and reviewed. Results Over a 21-year period, a total 432 cases (0.64%) with sex chromosome aneuploidies were identified in 67681invasive prenatal diagnostic procedures. The annual detection rate of sex chromosome aneuploidies showed an increasing trend, 1.8 to 17.4per1000 prenatal invasive procedures (p<0.0001). After the implementation of universal Down syndrome screening programme in July 2010, the detection rate escalated sharply by almost two fold from 8.7 per 1000 in 2010 to 17.4 per 1000 prenatal invasive diagnostic procedures in 2014. The major cause of increase was contributed by increasing detection of 45,X cases followed by mosaic 45,X cases (p<0.0001 andp=0.002respectively). Turner syndrome was the most commonly diagnosed SCA (43.7%) and its major indication for diagnostic procedure was cystic hygroma and/or fetal hydrops on ultrasonography. After exclusion of affected pregnancies with unknown outcome and termination, the live birth rates of sex chromosome aneuploidies were 21.9%, 100%, 97.2%, 90.5%, and 98.6% for 45,X, 47,XXY, 47,XXX, 47,XYY and mosaicism respectively. The overall termination rate was 55.4%. Pregnancies with ultrasound abnormalities, non-mosaickaryotypes, and with 45,X or 47,XXY karyotypes were associated with higher termination rates than pregnancies with normal ultrasound finding (ultrasound abnormalities vs normal ultrasound finding 91.3% vs 28.1%, p<0.0001 ), mosaic karyotypes (non-mosaic vs mosaic 33.1% vs 19.3%, p=0.025) and 47,XXX, 47,XYY and mosaicism (45,X and 47,XXY vs 47,XXX, 47,XYY and mosaicism 46.3% vs 18.2%, p<0.0001). From multivariate regression analysis on the parental decisions regarding pregnancies with normal ultrasound examination in 228 pregnancies, a higher likelihood to terminate was found in pregnancies affected by 45,X and 47,XXY (adjusted Odds ratio 4.67, 95% confidence interval 2.41-9.02, p<0.0001) and absence of fertility problems (adjusted Odds ratio 5.06, 95% confidence interval 1.08-23.74, p=0.04). Increased maternal age was associated with lower likelihood to terminate (adjusted Odds ratio 0.9, 95% confidence…

Subjects/Keywords: Genetic disorders; Prenatal diagnosis; Genetic counseling

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

APA (6^th Edition):

So, P. (2015). Overview of parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong and implication for genetic counselling. (Thesis). University of Hong Kong. Retrieved from http://hdl.handle.net/10722/225095

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):

So, Po-lam. “Overview of parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong and implication for genetic counselling.” 2015. Thesis, University of Hong Kong. Accessed April 15, 2021. http://hdl.handle.net/10722/225095.

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

MLA Handbook (7^th Edition):

So, Po-lam. “Overview of parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong and implication for genetic counselling.” 2015. Web. 15 Apr 2021.

Vancouver:

So P. Overview of parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong and implication for genetic counselling. [Internet] [Thesis]. University of Hong Kong; 2015. [cited 2021 Apr 15]. Available from: http://hdl.handle.net/10722/225095.

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

Council of Science Editors:

So P. Overview of parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong and implication for genetic counselling. [Thesis]. University of Hong Kong; 2015. Available from: http://hdl.handle.net/10722/225095

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

University of Hong Kong

20. Cheng, Ching-yan, Serene. Impact of Non-invasive Prenatal Testing on genetic counselling, invasive prenatal diagnosis and atypical chromosomal anomalies detection.

Degree: 2017, University of Hong Kong

URL: http://hdl.handle.net/10722/251327

► Aneuploidy is one of the known major causes of miscarriage and congenital birth defects. It refers to chromosomal abnormality with chromosome number being different from… (more)

▼ Aneuploidy is one of the known major causes of miscarriage and congenital birth defects. It refers to chromosomal abnormality with chromosome number being different from the usual number for the particular species (Hassold et al. 2001). To estimate the risk of having a baby with chromosomal abnormalities, biochemical markers, such as pregnancy associated plasma protein-A (PAPP-A) and unbound beta human chorionic gonadotrophin (free β-hCG) together with ultrasound measurement of nuchal translucency (NT) of the fetus have been commonly used for prenatal screening of Down syndrome and Edwards syndrome. The detection rate is approximately 90 % with a false positive rate of approximately 5% (Sahota et al. 2010). The discovery of cell-free fetal DNA in the maternal circulation revolutionized prenatal testing. Cell-free fetal DNA could provide disease related genetic information of the fetus and is available for detection starting from gestation week 10. It has been used as non-invasive prenatal tests (NIPT) to screen for trisomy 21, 18 and 13 of the fetus, other aneuploidies, triploidy, and microdeletions. NIPT carries more than 99% specificity and 98% sensitivity for both T21 and T18 detection, with less than 0.03% of false positive rate (Dan et al. 2012). The public sector in Macau received government funding to implement NIPT in the general obstetric population at Hospital Conde S. Januário (CHCSJ). NIFTY ™ (Non-Invasive Fetal TrisomY test), provided by BGI Diagnosis Co. Ltd.(BGI), was available for pregnant women in CHCSJ who are at age 35 or above at expected date of confinement from March 2015. This study aims to identify the performance of NIPT in clinical practice, the cost effectiveness and impact on genetic counselling workload as well as the number of invasive tests for the period March 2015 to August 2016. Cost effectiveness was calculated and expressed as incremental cost effectiveness ratio as well as cost per case. Cost of the screening model with NIPT implementation in “high- risk” group at CHCSJ (Macau) was compared with cost of the Tsan Yuk Hospital (TYH) first/second trimester Down syndrome screening model (FTS/STS). Within the study period, the performance of NIPT was remarkable with 100% detection rate and zero false negative rate. However, the NIPT model did not target atypical chromosome abnormalities detection, hence atypical chromosome abnormalities would be missed. At present the implementation of NIPT in high risk group may not be as cost effective as FTS/STS because of the comparatively high cost of the NIPT test. However, genetic counselling workload and invasive test numbers showed significant reduction. Post-test counselling showed a more significant reduction on workforce. Hence, NIPT is a highly accurate screening test that could achieve high detection of Down syndrome and Edwards syndrome, and at the same time ease manpower shortage at CHCSJ with a predefined budget in the public healthcare system.

Subjects/Keywords: Genetic counseling; Prenatal diagnosis; Genetic disorders

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

APA (6^th Edition):

Cheng, Ching-yan, S. (2017). Impact of Non-invasive Prenatal Testing on genetic counselling, invasive prenatal diagnosis and atypical chromosomal anomalies detection. (Thesis). University of Hong Kong. Retrieved from http://hdl.handle.net/10722/251327

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):

Cheng, Ching-yan, Serene. “Impact of Non-invasive Prenatal Testing on genetic counselling, invasive prenatal diagnosis and atypical chromosomal anomalies detection.” 2017. Thesis, University of Hong Kong. Accessed April 15, 2021. http://hdl.handle.net/10722/251327.

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

MLA Handbook (7^th Edition):

Cheng, Ching-yan, Serene. “Impact of Non-invasive Prenatal Testing on genetic counselling, invasive prenatal diagnosis and atypical chromosomal anomalies detection.” 2017. Web. 15 Apr 2021.

Vancouver:

Cheng, Ching-yan S. Impact of Non-invasive Prenatal Testing on genetic counselling, invasive prenatal diagnosis and atypical chromosomal anomalies detection. [Internet] [Thesis]. University of Hong Kong; 2017. [cited 2021 Apr 15]. Available from: http://hdl.handle.net/10722/251327.

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

Council of Science Editors:

Cheng, Ching-yan S. Impact of Non-invasive Prenatal Testing on genetic counselling, invasive prenatal diagnosis and atypical chromosomal anomalies detection. [Thesis]. University of Hong Kong; 2017. Available from: http://hdl.handle.net/10722/251327

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

Michigan State University

21. Mansour, Tamer Ahmed. Determining the role of IRF6 in T cell development and functional commitment.

Degree: 2014, Michigan State University

URL: http://etd.lib.msu.edu/islandora/object/etd:3115

►

Thesis Ph. D. Michigan State University. Genetics 2014.

DETERMINING THE ROLE OF IRF6 IN T CELL DEVELOPMENT AND FUNCTIONAL COMMITMENT Interferon regulatory factor (IRF) is… (more)

▼

Thesis Ph. D. Michigan State University. Genetics 2014.

DETERMINING THE ROLE OF IRF6 IN T CELL DEVELOPMENT AND FUNCTIONAL COMMITMENT Interferon regulatory factor (IRF) is a protein family with nine members in mammals known to orchestrate and control homeostatic mechanisms of host defense. There are functional and/or developmental defects of immune cells in the knockouts of eight family members. Like other family members, IRF6 is involved in regulating the cell cycle but in keratinocytes and mammary epithelial cell with mutations associated with squamous cell carcinomas. However, Irf6 is the only IRF known to be involved in morphogenesis. In humans, rare variants in IRF6 cause autosomal dominant orofacial clefting disorders. Common IRF6 variants contribute risk toward non-syndromic orofacial clefting. IRF6 is the only IRF family member with an as yet undetermined role in immunity. Here, we used publically available microarray data to uncover a dynamic expression pattern for Irf6 during hematopoietic development and functional commitment. We found that Irf6 is expressed early in hematopoiesis, especially in long term hematopoietic stem cells. Also we identified Irf6 expression in T cell lineage, including developing and functionally committed stages. Irf1, 2, 4, 8 are indispensable for a normal T cell development and differentiation. Genetic variants in IRF5, IRF7 and IRF8 are associated to autoimmune disorders of T cells including psoriasis, multiple sclerosis and systemic lupus erythematosis. Furthermore, protein complexes between IRF6/IRF5 and IRF6/IRF8 were described. These data together with DNA conservation among the IRF members and structural homology with IRF5 strongly suggests a role for Irf6 in the immune system, specifically in T-cell development and functional commitment. We utilized a mouse model to show that Irf6 was required for the regulation of thymocyte development. We found that Irf6 was expressed in the subcapsular region and medulla of the thymus. We further found that Irf6 regulated the distribution and proliferation of developing thymocytes. In addition, loss of Irf6 led to an increase in double negative cells with a concomitant increase in TCRγδ. Loss of Irf6 also led to a reduction in double positive cells with no corresponding reduction in single positive cell maturation. Also, we found that Irf6 dose is critical in development of both CD4+ and CD8+ cells in an age-dependent manner. These data suggest a novel gene function for Irf6 in thymocyte development and indicate further studies of IRF6 variants that might increase the risk of autoimmune disease. In the mouse, loss of Irf6 leads to perinatal lethality which hinders the ability to test the necessity of Irf6 in the functionally committed T helper (Th) subsets. We use a combination of in silico, in vivo and in vitro assays to determine the role of Irf6 in T cell differentiation. Using in silico analysis, we found and propose a model for Irf6 function in Th17/Treg balance. To test our hypothesis in vivo and overcome…

Advisors/Committee Members: Schutte, Brian C, Brown, Titus, Wei, Sainan, kim, Sungjin.

Subjects/Keywords: Genetic disorders – Pathogenesis; Cleft palate – Genetic aspects; Cleft palate – Animal models; Interferon; Genetics; Bioinformatics

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

APA (6^th Edition):

Mansour, T. A. (2014). Determining the role of IRF6 in T cell development and functional commitment. (Thesis). Michigan State University. Retrieved from http://etd.lib.msu.edu/islandora/object/etd:3115

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):

Mansour, Tamer Ahmed. “Determining the role of IRF6 in T cell development and functional commitment.” 2014. Thesis, Michigan State University. Accessed April 15, 2021. http://etd.lib.msu.edu/islandora/object/etd:3115.

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

MLA Handbook (7^th Edition):

Mansour, Tamer Ahmed. “Determining the role of IRF6 in T cell development and functional commitment.” 2014. Web. 15 Apr 2021.

Vancouver:

Mansour TA. Determining the role of IRF6 in T cell development and functional commitment. [Internet] [Thesis]. Michigan State University; 2014. [cited 2021 Apr 15]. Available from: http://etd.lib.msu.edu/islandora/object/etd:3115.

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

Council of Science Editors:

Mansour TA. Determining the role of IRF6 in T cell development and functional commitment. [Thesis]. Michigan State University; 2014. Available from: http://etd.lib.msu.edu/islandora/object/etd:3115

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

Michigan State University

22. Goris, Emilie Dykstra. Apathy, genetics, and functional status in persons with Alzheimer Disease.

Degree: 2013, Michigan State University

URL: http://etd.lib.msu.edu/islandora/object/etd:140

►

Thesis Ph. D. Michigan State University. Nursing 2013.

Background/Significance: Alzheimer Disease (AD) is an irreversible dementia that progressively destroys cognitive and daily functioning. About 5.4… (more)

▼

Thesis Ph. D. Michigan State University. Nursing 2013.

Background/Significance: Alzheimer Disease (AD) is an irreversible dementia that progressively destroys cognitive and daily functioning. About 5.4 million Americans currently suffer from AD, with estimated prevalence to reach 16 million by 2050 (Alzheimer's Association, 2012). AD is often regarded with fear, as most affected individuals eventually fail to recognize loved ones, lose the ability to care for themselves, and may display negative neuropsychiatric behaviors, such as apathy. Apathy is a disorder of motivation with deficits in behavioral, emotional, and/or cognitive domains and is conceptualized as a need-driven behavior, based on the Need-Driven Dementia-Compromised Behavior Model (Algase et al., 1996). Problem: Despite the high prevalence and negative sequela associated with apathy, little is known about characteristics of persons with AD, including biologic factors that contribute to the presence and severity of apathy. Purpose: The purpose of this study was to examine the extent to which individual characteristics and social environment factors predict apathy in persons with AD and the extent to which apathy influences function. Specific Aims: 1) Examine the extent to which individual characteristics (demographics and cognitive status) and social environment factors predict the severity of apathy in persons with AD, after adjusting for AD severity and Apolipoprotein E-4 (APOE4) status, 2) Examine the extent to which variations in the Oxytocin Receptor (OXTR) gene are associated with apathy in persons with AD, and 3) Examine the extent to which severity of apathy influences functional status in persons with AD, after adjusting for AD severity. Methods: This cross-sectional descriptive study of 66 persons with moderate dementia was part of a parent study of gene-environment interactions in the symptoms of AD, in which persons with a diagnosis of possible or probable AD were recruited from the community and long-term care facilities. Instrumentation: Measures of cognition (Severe Impairment Battery [SIB]), apathy (Neuropsychiatric Inventory-Nursing Home, Apathy subscale [NPI-Apathy] and Apathy Inventory [IA]), function (Functional Assessment Staging Test [FAST] and Functional Abilities Checklist [FAC]), as well as deoxyribonucleic acid (DNA) for subsequent genotyping, were available to address these aims. Results: The majority of study participants were female, with a mean age of 85 years (SD=7.35). The prevalence of apathy ranged from 53-72%, depending on the measure of apathy. Aim 1: Multiple linear regression produced a model that explained 24.5% of the variance in apathy severity (F=2.370, p=.046). Background factor variables [main demographic variables (age, gender) and cognition (SIB total score)], function (FAST total score), and number of APOE4 alleles served as the most…

Advisors/Committee Members: Smith, Barbara A, Schutte, Debra L, Given, Barbara A, Yao, Lan, Dunn, Susan L.

Subjects/Keywords: Alzheimer's disease; Alzheimer's disease – Genetic aspects; Apathy – Genetic aspects; Neurobehavioral disorders – Genetic aspects; Nursing; Gerontology; Genetics; Oxytocin receptor gene

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

APA (6^th Edition):

Goris, E. D. (2013). Apathy, genetics, and functional status in persons with Alzheimer Disease. (Thesis). Michigan State University. Retrieved from http://etd.lib.msu.edu/islandora/object/etd:140

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):

Goris, Emilie Dykstra. “Apathy, genetics, and functional status in persons with Alzheimer Disease.” 2013. Thesis, Michigan State University. Accessed April 15, 2021. http://etd.lib.msu.edu/islandora/object/etd:140.

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

MLA Handbook (7^th Edition):

Goris, Emilie Dykstra. “Apathy, genetics, and functional status in persons with Alzheimer Disease.” 2013. Web. 15 Apr 2021.

Vancouver:

Goris ED. Apathy, genetics, and functional status in persons with Alzheimer Disease. [Internet] [Thesis]. Michigan State University; 2013. [cited 2021 Apr 15]. Available from: http://etd.lib.msu.edu/islandora/object/etd:140.

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

Council of Science Editors:

Goris ED. Apathy, genetics, and functional status in persons with Alzheimer Disease. [Thesis]. Michigan State University; 2013. Available from: http://etd.lib.msu.edu/islandora/object/etd:140

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

Michigan State University

23. Larrivee, Casandra Lynn. Analysis of mice carrying human GNAO1 mutations as a model to study associated movement disorders.

Degree: 2019, Michigan State University

URL: http://etd.lib.msu.edu/islandora/object/etd:47791

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Thesis M.S. Michigan State University. Comparative Medicine and Integrative Biology 2019

"Due to the increased availability of genetic screening, patients with idiopathic epilepsy and movement… (more)

Subjects/Keywords: Movement disorders – Genetic aspects – Animal models; Epilepsy – Genetic aspects – Animal models; Convulsions – Genetic aspects – Animal models; Neurosciences; Pharmacology

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

APA (6^th Edition):

Larrivee, C. L. (2019). Analysis of mice carrying human GNAO1 mutations as a model to study associated movement disorders. (Thesis). Michigan State University. Retrieved from http://etd.lib.msu.edu/islandora/object/etd:47791

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):

Larrivee, Casandra Lynn. “Analysis of mice carrying human GNAO1 mutations as a model to study associated movement disorders.” 2019. Thesis, Michigan State University. Accessed April 15, 2021. http://etd.lib.msu.edu/islandora/object/etd:47791.

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

MLA Handbook (7^th Edition):

Larrivee, Casandra Lynn. “Analysis of mice carrying human GNAO1 mutations as a model to study associated movement disorders.” 2019. Web. 15 Apr 2021.

Vancouver:

Larrivee CL. Analysis of mice carrying human GNAO1 mutations as a model to study associated movement disorders. [Internet] [Thesis]. Michigan State University; 2019. [cited 2021 Apr 15]. Available from: http://etd.lib.msu.edu/islandora/object/etd:47791.

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

Council of Science Editors:

Larrivee CL. Analysis of mice carrying human GNAO1 mutations as a model to study associated movement disorders. [Thesis]. Michigan State University; 2019. Available from: http://etd.lib.msu.edu/islandora/object/etd:47791

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

24. Sindhav, Gaurangkumar M. Some genetic disorders related to western region; -.

Degree: Zoology, 2014, Gujarat University

URL: http://shodhganga.inflibnet.ac.in/handle/10603/28994

None newline

-

Advisors/Committee Members: Rao, M V.

Subjects/Keywords: genetic disorders; western region

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

APA (6^th Edition):

Sindhav, G. M. (2014). Some genetic disorders related to western region; -. (Thesis). Gujarat University. Retrieved from http://shodhganga.inflibnet.ac.in/handle/10603/28994

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):

Sindhav, Gaurangkumar M. “Some genetic disorders related to western region; -.” 2014. Thesis, Gujarat University. Accessed April 15, 2021. http://shodhganga.inflibnet.ac.in/handle/10603/28994.

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

MLA Handbook (7^th Edition):

Sindhav, Gaurangkumar M. “Some genetic disorders related to western region; -.” 2014. Web. 15 Apr 2021.

Vancouver:

Sindhav GM. Some genetic disorders related to western region; -. [Internet] [Thesis]. Gujarat University; 2014. [cited 2021 Apr 15]. Available from: http://shodhganga.inflibnet.ac.in/handle/10603/28994.

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

Council of Science Editors:

Sindhav GM. Some genetic disorders related to western region; -. [Thesis]. Gujarat University; 2014. Available from: http://shodhganga.inflibnet.ac.in/handle/10603/28994

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

University of California – San Diego

25. Scott, Eric M. Genomic structural characterization of the Greater Middle East to assist in the identification of disease variation.

Degree: Bioinformatics & Systems Bio, 2015, University of California – San Diego

URL: http://www.escholarship.org/uc/item/06g33393

► Our improved understanding of cellular biology, and, in a larger sense, human variability, relies on the accurate identification and analysis of disease-causing variants. Through the… (more)

Subjects/Keywords: Bioinformatics; Genetics; Consanguinity; Genetic Purging; Mendelian Disorders; Middle East; Population genetics

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

APA (6^th Edition):

Scott, E. M. (2015). Genomic structural characterization of the Greater Middle East to assist in the identification of disease variation. (Thesis). University of California – San Diego. Retrieved from http://www.escholarship.org/uc/item/06g33393

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):

Scott, Eric M. “Genomic structural characterization of the Greater Middle East to assist in the identification of disease variation.” 2015. Thesis, University of California – San Diego. Accessed April 15, 2021. http://www.escholarship.org/uc/item/06g33393.

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

MLA Handbook (7^th Edition):

Scott, Eric M. “Genomic structural characterization of the Greater Middle East to assist in the identification of disease variation.” 2015. Web. 15 Apr 2021.

Vancouver:

Scott EM. Genomic structural characterization of the Greater Middle East to assist in the identification of disease variation. [Internet] [Thesis]. University of California – San Diego; 2015. [cited 2021 Apr 15]. Available from: http://www.escholarship.org/uc/item/06g33393.

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

Council of Science Editors:

Scott EM. Genomic structural characterization of the Greater Middle East to assist in the identification of disease variation. [Thesis]. University of California – San Diego; 2015. Available from: http://www.escholarship.org/uc/item/06g33393

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

Ryerson University

26. Albiani, Jenna J. Examining health anxiety among Lynch syndrome carriers.

Degree: 2014, Ryerson University

URL: https://digital.library.ryerson.ca/islandora/object/RULA%3A3324

► The current research was designed to examine health anxiety among individuals with Lynch syndrome; a genetic predisposition to adult onset cancers. This research had two… (more)

▼ The current research was designed to examine health anxiety among individuals with Lynch syndrome; a genetic predisposition to adult onset cancers. This research had two aims: 1) To examine the severity of health anxiety in Lynch syndrome patients and identify predictors and consequences associated with health anxiety, and 2) To examine the additional impact health anxiety has on parents with Lynch syndrome. Two studies were conducted. In Study I, 209 individuals with Lynch syndrome, selected from a genetic cancer registry, completed self-report measures assessing health anxiety, medical and psychological variables, and medical service utilization. Results indicated that 30% of participants reported clinically significant levels of health anxiety. Regression analyses revealed that younger age, greater depression, anxiety, worry interference and emotional preoccupation coping were predictive of increased health anxiety. Increased health anxiety was associated with greater overall medical service utilization; specifically, visits to gastroenterologists and emergency departments. In Study II, purposive sampling was used to identify parents from Study I who reported the highest and lowest health anxiety. Twenty-one individuals completed semi-structured telephone interviews about their experience of being a parent with Lynch syndrome, their concerns of potentially passing down the genetic mutation to their children, and their perceptions of their children’s health. Qualitative content analysis using a template coding approach was used to examine the differences between parents with high and low health anxiety. Findings revealed that the most prevalent difference was in relation to parent’s perceptions of their personal health. Those with high health anxiety experienced worries that were more extreme, demonstrated a hypervigilance towards physical symptoms, discussed the emotional and psychological consequences of Lynch syndrome as more negative and severe, and had a tendency to engage in more dysfunctional coping strategies. Unexpectedly, with regards to their perceptions of their children, the parents in the high and low health anxiety groups exhibited similar worries. Taken together, the findings from Studies I and II suggest that health anxiety is of clinical significance for individuals with Lynch syndrome. Accurately identifying and treating health anxiety among this population may be one avenue to reduce the distress experienced by Lynch syndrome carriers. Advisors/Committee Members: Hart, Tae (Thesis advisor), Ryerson University (Degree grantor).

Subjects/Keywords: Human chromosome abnormalities – Diagnosis; Genetic disorders – Patients; Hypochondria; Anxiety

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APA (6^th Edition):

Albiani, J. J. (2014). Examining health anxiety among Lynch syndrome carriers. (Thesis). Ryerson University. Retrieved from https://digital.library.ryerson.ca/islandora/object/RULA%3A3324

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):

Albiani, Jenna J. “Examining health anxiety among Lynch syndrome carriers.” 2014. Thesis, Ryerson University. Accessed April 15, 2021. https://digital.library.ryerson.ca/islandora/object/RULA%3A3324.

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

MLA Handbook (7^th Edition):

Albiani, Jenna J. “Examining health anxiety among Lynch syndrome carriers.” 2014. Web. 15 Apr 2021.

Vancouver:

Albiani JJ. Examining health anxiety among Lynch syndrome carriers. [Internet] [Thesis]. Ryerson University; 2014. [cited 2021 Apr 15]. Available from: https://digital.library.ryerson.ca/islandora/object/RULA%3A3324.

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

Council of Science Editors:

Albiani JJ. Examining health anxiety among Lynch syndrome carriers. [Thesis]. Ryerson University; 2014. Available from: https://digital.library.ryerson.ca/islandora/object/RULA%3A3324

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

University of Michigan

27. Geister, Krista Anne. The Genetic and Molecular Etiologies of Two Spontaneous Mouse Models of Skeletal Dysplasia and Infertility.

Degree: PhD, Cellular & Molecular Biology, 2013, University of Michigan

URL: http://hdl.handle.net/2027.42/100101

► High-throughput genotyping and sequencing technologies have stimulated an accelerated pace of Mendelian gene discovery. Forty-one novel genetic causes of skeletal dysplasia have been uncovered in… (more)

▼ High-throughput genotyping and sequencing technologies have stimulated an accelerated pace of Mendelian gene discovery. Forty-one novel genetic causes of skeletal dysplasia have been uncovered in the last two years. The genetic heterogeneity of the skeletal dysplasias is extremely high, with 450 forms described. Multiple organ systems can be affected, including the reproductive system. I present the discovery of two different genes that are mutated in spontaneously occurring mouse mutants that cause skeletal dysplasia and infertility. These discoveries demonstrate the value of mouse mutations for understanding the pathophysiology of disease and testing treatments. The peewee mouse exhibits female infertility and skeletal dysplasia associated with reduced progression of cells through the zones of the growth plate. The phenotype is caused by a loss-of-function mutation in the gene that encodes natriuretic peptide receptor 2, Npr2. Human NPR2 mutations cause a form of extreme short stature known as acromesomelic dysplasia, Maroteaux type (AMDM). Nothing is known about the fertility of these patients. We demonstrate that Npr2 loss-of-function affects growth by increased activation of the ERK MAPK pathway. We can correct the Npr2pwe/pwe growth defect in explant cultures of embryonic bones with drugs that inhibit MEK1/2 action. We also show that female infertility is rooted in the requirement for Npr2 activation to generate the cGMP necessary to maintain meiotic arrest of oocytes. The chagun mouse exhibits severe short stature and male infertility. The phenotype is caused by a hypomorphic mutation in a gene also mutated in human patients with a form of primordial dwarfism. The fertility of these patients is unknown. I demonstrate that chagun serves as a model for this human disorder. I show that the growth insufficiency is caused by disorganization of the cells at the growth plate, and that male infertility is due to progressive germ cell loss. Both of these mouse mutations model human skeletal dysplasia disorders, predict infertility, illuminate the pathophysiology of the disorders and pave the way for the development of therapeutic interventions to improve growth. Advisors/Committee Members: Camper, Sally Ann (committee member), Meisler, Miriam H. (committee member), Dressler, Gregory R. (committee member), Franceschi, Renny T. (committee member), Keegan, Catherine Elizabeth H. (committee member).

Subjects/Keywords: Skeletal Dysplasia; Infertility; Mouse Models of Genetic Disorders; Genetics; Health Sciences

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

APA (6^th Edition):

Geister, K. A. (2013). The Genetic and Molecular Etiologies of Two Spontaneous Mouse Models of Skeletal Dysplasia and Infertility. (Doctoral Dissertation). University of Michigan. Retrieved from http://hdl.handle.net/2027.42/100101

Chicago Manual of Style (16^th Edition):

Geister, Krista Anne. “The Genetic and Molecular Etiologies of Two Spontaneous Mouse Models of Skeletal Dysplasia and Infertility.” 2013. Doctoral Dissertation, University of Michigan. Accessed April 15, 2021. http://hdl.handle.net/2027.42/100101.

MLA Handbook (7^th Edition):

Geister, Krista Anne. “The Genetic and Molecular Etiologies of Two Spontaneous Mouse Models of Skeletal Dysplasia and Infertility.” 2013. Web. 15 Apr 2021.

Vancouver:

Geister KA. The Genetic and Molecular Etiologies of Two Spontaneous Mouse Models of Skeletal Dysplasia and Infertility. [Internet] [Doctoral dissertation]. University of Michigan; 2013. [cited 2021 Apr 15]. Available from: http://hdl.handle.net/2027.42/100101.

Council of Science Editors:

Geister KA. The Genetic and Molecular Etiologies of Two Spontaneous Mouse Models of Skeletal Dysplasia and Infertility. [Doctoral Dissertation]. University of Michigan; 2013. Available from: http://hdl.handle.net/2027.42/100101

28. Sakthivel, Murugan S M. Genetic diagnosis prevention and molecular pathophysiology of duchenne muscular dystrophy and non invasive diagnosis of familial neuromuscular disorders; -.

Degree: Bilogical Sciene, 2014, INFLIBNET

URL: http://shodhganga.inflibnet.ac.in/handle/10603/24867

►

This protein binds the intracellular actin to the extracellular lamellae through the dystroglycans and other transmembrane proteins The dystrophin protein helps in maintaining the cellular… (more)

Subjects/Keywords: Duchenne Muscular Dystrophy; Genetic Diagnosis Prevention; Molecular Pathophysiology; Neuromuscular Disorders

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APA (6^th Edition):

Sakthivel, M. S. M. (2014). Genetic diagnosis prevention and molecular pathophysiology of duchenne muscular dystrophy and non invasive diagnosis of familial neuromuscular disorders; -. (Thesis). INFLIBNET. Retrieved from http://shodhganga.inflibnet.ac.in/handle/10603/24867

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):

Sakthivel, Murugan S M. “Genetic diagnosis prevention and molecular pathophysiology of duchenne muscular dystrophy and non invasive diagnosis of familial neuromuscular disorders; -.” 2014. Thesis, INFLIBNET. Accessed April 15, 2021. http://shodhganga.inflibnet.ac.in/handle/10603/24867.

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

MLA Handbook (7^th Edition):

Sakthivel, Murugan S M. “Genetic diagnosis prevention and molecular pathophysiology of duchenne muscular dystrophy and non invasive diagnosis of familial neuromuscular disorders; -.” 2014. Web. 15 Apr 2021.

Vancouver:

Sakthivel MSM. Genetic diagnosis prevention and molecular pathophysiology of duchenne muscular dystrophy and non invasive diagnosis of familial neuromuscular disorders; -. [Internet] [Thesis]. INFLIBNET; 2014. [cited 2021 Apr 15]. Available from: http://shodhganga.inflibnet.ac.in/handle/10603/24867.

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

Council of Science Editors:

Sakthivel MSM. Genetic diagnosis prevention and molecular pathophysiology of duchenne muscular dystrophy and non invasive diagnosis of familial neuromuscular disorders; -. [Thesis]. INFLIBNET; 2014. Available from: http://shodhganga.inflibnet.ac.in/handle/10603/24867

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

Erasmus University Rotterdam

29. M.H.T. van der Vaart (Thijs). Translational research on targeted treatment for cognitive deficits in neurofibromatosis Type 1.

Degree: 2015, Erasmus University Rotterdam

URL: http://hdl.handle.net/1765/78721

► markdownabstractAbstract Neurofibromatosis type 1(NF1) is a common neurocutaneous disorder (birth incidence 1:2000) caused by heterozygous mutations in NF1, a gene on chromosome 17 encoding neurofibromin,… (more)

▼ markdownabstractAbstract Neurofibromatosis type 1(NF1) is a common neurocutaneous disorder (birth incidence 1:2000) caused by heterozygous mutations in NF1, a gene on chromosome 17 encoding neurofibromin, which is a suppressor of the Ras pathway. Cognitive dysfunction and behavioural problems are common features of NF1 during childhood. Preclinical studies have shown that excessive inhibition by GABAergic interneurons leads to a deficit in synaptic plasticity, and that statins can reverse the electrophysiological and behavioural problems in Nf1-mice. The overall objective of this thesis is to contribute to the development of medical treatment of the cognitive and behavioural dysfunction in NFl. In chapter 2, we investigated the effect of simvastatin on cognitive performance and behavioural problems in 84 children and adolescents with Neurofibromatosis type 1 in a 12 month randomised placebo controlled trial (NF1-SIMCODA). Children and adolescents were treated with 20 mg simvastatin per day (children aged 12 and younger) or 40 mg simvastatin per day (adolescents aged 13 and above). No significant differences between the simvastatin group and the placebo group were observed on the primary outcomes full-scale intelligence, attention problems, or internalising behavioural problems, or on secondary outcomes visual spatial memory, attention, teacher-rated school performance, psychosocial quality of life, self-reported internalising behavioural problems, or fine motor coordination. Conclusively, twelve months of simvastatin treatment did not ameliorate cognitive deficits or behavioural problems in children with NF1. Another aim of this thesis was to find variables that could explain part of the heterogeneity in clinical features of NFl. Such variables could be important in the selection of patients for clinical trials, or for the planning of subgroup analysis. In chapter 3, we retrospectively analysed a group of 28 children with microdeletion of the NF1 region and compared their disease course during childhood with that of 84 children with intragenic mutations, matched for date-of-birth and gender. We found a higher percentage in the microdeletion-group visiting schools for intellectual disabilities, and a higher number of cutaneous neurofibroma in the microdeletion group at the last moment of follow-up. These findings are currently being translated in a clinical trial of lamotrigine in adolescents with NFl. In conclusion, despite the neutral results ofthe NF1-SIMCODA trial, a molecularly targeted treatment of cognitive deficits and behavioural problems in NFl still holds promise.

Subjects/Keywords: Neurofibromatosis; cognition; treatment; simvastatin; lamotrigine; behavior; nf1; genetic disorders; therapy; medicine

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

APA (6^th Edition):

(Thijs), M. v. d. V. (2015). Translational research on targeted treatment for cognitive deficits in neurofibromatosis Type 1. (Thesis). Erasmus University Rotterdam. Retrieved from http://hdl.handle.net/1765/78721

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):

(Thijs), M.H.T. van der Vaart. “Translational research on targeted treatment for cognitive deficits in neurofibromatosis Type 1.” 2015. Thesis, Erasmus University Rotterdam. Accessed April 15, 2021. http://hdl.handle.net/1765/78721.

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

MLA Handbook (7^th Edition):

(Thijs), M.H.T. van der Vaart. “Translational research on targeted treatment for cognitive deficits in neurofibromatosis Type 1.” 2015. Web. 15 Apr 2021.

Vancouver:

(Thijs) MvdV. Translational research on targeted treatment for cognitive deficits in neurofibromatosis Type 1. [Internet] [Thesis]. Erasmus University Rotterdam; 2015. [cited 2021 Apr 15]. Available from: http://hdl.handle.net/1765/78721.

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

Council of Science Editors:

(Thijs) MvdV. Translational research on targeted treatment for cognitive deficits in neurofibromatosis Type 1. [Thesis]. Erasmus University Rotterdam; 2015. Available from: http://hdl.handle.net/1765/78721

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

Univerzitet u Beogradu

30. Milošević, Nataša V., 1983-. Polimorfizmi u MTHFR, GSTM1, GSTT1, MMP9 genima kao faktori predispozicije za pojavu temporomandibularnih disfunkcija.

Degree: Stomatološki fakultet, 2016, Univerzitet u Beogradu

URL: https://fedorabg.bg.ac.rs/fedora/get/o:12509/bdef:Content/get

Stomatologija - Stomatološka protetika / Dentistry - Prosthodontics

U etiologiji temporomandibularnih disfunkcija genetika je vremenom dobila zasluženu pažnju...

Advisors/Committee Members: Milašin, Jelena, 1957-.

Subjects/Keywords: temporomandibular disorders; genetic plymorphisms; MTHFR; GSTM1; GSTT1; MMP9

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APA (6^th Edition):

Milošević, Nataša V., 1. (2016). Polimorfizmi u MTHFR, GSTM1, GSTT1, MMP9 genima kao faktori predispozicije za pojavu temporomandibularnih disfunkcija. (Thesis). Univerzitet u Beogradu. Retrieved from https://fedorabg.bg.ac.rs/fedora/get/o:12509/bdef:Content/get

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):

Milošević, Nataša V., 1983-. “Polimorfizmi u MTHFR, GSTM1, GSTT1, MMP9 genima kao faktori predispozicije za pojavu temporomandibularnih disfunkcija.” 2016. Thesis, Univerzitet u Beogradu. Accessed April 15, 2021. https://fedorabg.bg.ac.rs/fedora/get/o:12509/bdef:Content/get.

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

MLA Handbook (7^th Edition):

Milošević, Nataša V., 1983-. “Polimorfizmi u MTHFR, GSTM1, GSTT1, MMP9 genima kao faktori predispozicije za pojavu temporomandibularnih disfunkcija.” 2016. Web. 15 Apr 2021.

Vancouver:

Milošević, Nataša V. 1. Polimorfizmi u MTHFR, GSTM1, GSTT1, MMP9 genima kao faktori predispozicije za pojavu temporomandibularnih disfunkcija. [Internet] [Thesis]. Univerzitet u Beogradu; 2016. [cited 2021 Apr 15]. Available from: https://fedorabg.bg.ac.rs/fedora/get/o:12509/bdef:Content/get.

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

Council of Science Editors:

Milošević, Nataša V. 1. Polimorfizmi u MTHFR, GSTM1, GSTT1, MMP9 genima kao faktori predispozicije za pojavu temporomandibularnih disfunkcija. [Thesis]. Univerzitet u Beogradu; 2016. Available from: https://fedorabg.bg.ac.rs/fedora/get/o:12509/bdef:Content/get

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