Global ETD Search

41	Identifying Insurance Barriers in Obtaining Exome Sequencing in the Pediatric Setting Williamson, Rachel K. January 2021 (has links) No description available. Health Sciences Genetics Public Health Public Policy genetic counseling genetic insurance exome sequencing pediatric policy
42	Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels / ORAI1遺伝子の優性変異は、ストア作動性Ca2+チャネルの恒常的活性化を通して細管集合体ミオパチーを引き起こす Endo, Yukari 23 March 2015 (has links) 京都大学 / 0048 / 新制・論文博士 / 博士(医学) / 乙第12920号 / 論医博第2095号 / 新制\|\|医\|\|1010(附属図書館) / 32130 / (主査)教授髙橋良輔, 教授松田文彦, 教授瀬原淳子 / 学位規則第4条第2項該当 / Doctor of Medical Science / Kyoto University / DFAM Tubular aggregate myopathy Store-operated Ca2+ entry Whole exome sequencing 490
43	Comprehensive Molecular Diagnosis of a Large Cohort of Japanese Retinitis Pigmentosa and Usher Syndrome Patients by Next-Generation Sequencing / 日本人網膜色素変性及びアッシャー症候群に対する次世代シーケンサーを用いた網羅的遺伝子スクリーニング Oishi, Maho 23 January 2018 (has links) 京都大学 / 0048 / 新制・課程博士 / 博士(医学) / 甲第20789号 / 医博第4289号 / 新制\|\|医\|\|1025(附属図書館) / 京都大学大学院医学研究科医学専攻 / (主査)教授山田亮, 教授大森孝一, 教授高田穣 / 学位規則第4条第1項該当 / Doctor of Medical Science / Kyoto University / DFAM retinitis pigmentosa Usher syndrome next generation sequencing exome sequencing Japanese 490
44	Genetic Investigations of Juvenile Idiopathic Arthritis McIntosh, Laura A. 29 October 2018 (has links) No description available. Immunology juvenile idiopathic arthritis DOCK2 genome-wide association study whole exome sequencing mouse model of arthritis
45	The Use of Genetic Analyses and Functional Assays for the Interpretation of Rare Variants in Pediatric Heart Disease Schubert, Jeffrey A., B.S. 29 October 2018 (has links) No description available. Genetics Exome sequencing Pediatric cardiomyopathy Thoracic Aortic Aneurysm Filamin C FLNC Variant interpretation
46	Which Test is Best? Evaluating the Diagnostic Yield of Sequencing-based Testing Approaches for Patients with Neurodevelopmental Disorders at a Pediatric Institution: A Retrospective Chart Review Little, Nicholas J. 11 July 2019 (has links) No description available. Genetics Whole Exome Sequencing Gene Panel Diagnostic Yield Neurodevelopmental Disorders Intellectual Disability Next-generation Sequencing
47	Genetic analysis of pheochromocytoma and paraganglioma complicating cyanotic congenital heart disease / チアノーゼ性先天性心疾患に伴う褐色細胞腫及びパラガングリオーマの遺伝学的解析 Ogasawara, Tatsuki 23 January 2023 (has links) 京都大学 / 新制・課程博士 / 博士(医学) / 甲第24314号 / 医博第4908号 / 新制\|\|医\|\|1062(附属図書館) / 京都大学大学院医学研究科医学専攻 / (主査)教授小林恭, 教授松田文彦, 教授柳田素子 / 学位規則第4条第1項該当 / Doctor of Medical Science / Kyoto University / DFAM pheochromocytoma paraganglioma cyanotic congenital heart disease whole exome sequencing clonal selection HIF2α 490
48	Expansion of gastric intestinal metaplasia with copy number aberrations contributes to field cancerization / コピー数異常を伴う胃腸上皮化生の拡大は領域性の癌化に寄与する Kumagai, Ken 25 July 2022 (has links) 京都大学 / 新制・課程博士 / 博士(医学) / 甲第24138号 / 医博第4878号 / 新制\|\|医\|\|1060(附属図書館) / 京都大学大学院医学研究科医学専攻 / (主査)教授村川泰裕, 教授波多野悦朗, 教授武藤学 / 学位規則第4条第1項該当 / Doctor of Medical Science / Kyoto University / DFAM gastric cancer atrophic gastritis Helicobacter pylori single gland isolation whole-exome sequencing 490
49	Leveraging Public Exome Sequencing Data to Find Rare Causal Variants in Type 2 Diabetes Feiner, James January 2021 (has links) Background: Type 2 Diabetes (T2D) is growing in prevalence worldwide over the last century. T2D incidence is linked to numerous complications, increased risk of heart disease, and oncology outcomes. This highlights the importance of preventive measures for T2D, wherein genetic predisposition can serve as an early warning sign. The role of rare variants (RVs) in T2D pathogenesis has not been adequately explored due to study size limitations, therefore we hypothesized that new associations could be found using publicly available data repositories. Methods: Significant RV gene burden for T2D risk was discovered using exome sequences obtained from the United Kingdom Biobank (UKB) (n=162,215), then tested for replication in the Korean Association Resource project (n=973), the Metabolic Syndrome in Men Study (n=969), the San Antonio Mexican American Family Studies (n=309), and a pooled meta-analysis of the latter three cohorts. RV gene burden was reassessed in secondary analyses using T2D cases from each cohort and summary level data from the Genome Aggregation Database (GnomAD) (n=125,748). Results: UKB exome wide significant associations were found in GCK (OR=2.44, p=8.91×10-11) and PAM (OR=1.32, p=1.39×10-6), and suggestive associations (p<0.001) were found in 33 additional genes. Replication was limited in KARE, METSIM, SAMAFS and in the secondary analyses with GnomAD because of limited sample sizes and miscalibration with the external control, respectively. Follow-up analyses include exploration of RV gene burden in additional diabetes subtypes, evaluation of clinical features between RV carriers and non-carriers, comparing the ability to predict T2D with rare variant, polygenic, and phenotypic risk scores. Methodological improvements include the incorporation of robust analytic tools and increasing access to a greater diversity and number of samples. Conclusion: Publicly available exome sequencing data has identified genes where RV burden affects T2D pathogenesis and risk. The study of rare genetic variation in diabetes is just beginning. / Thesis / Master of Science (MSc)
50	Sp8 Function During Craniofacial Development Kasberg, Abigail D. 23 October 2014 (has links) No description available. Developmental Biology SP8 Craniofacial Development Signaling Center Valencia del Rey Exome-sequencing FGF

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