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Tesi sul tema "Developmental neurophysiology Genetic aspects"

Autore: Grafiati
Pubblicato: 4 giugno 2021
Ultima modifica: 28 gennaio 2023

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1

Tosch, Paul. "Investigations of ephrin ligands during development." Title page, abstract and table of contents only, 2002. http://web4.library.adelaide.edu.au/theses/09PH/09pht713.pdf.

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Abstract (sommario):
"May 2002." Addendum inside back cover. Bibliography: p. 139-157. Aims to isolate ephrin ligands from Drosophila melanogaster and analyse their involvement in Drosophila deveopment. Also investigates the potential of ephrin B-1 as a causative gene in the human condition Aicardi's syndrome.
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2

Gauthier, Julie. "Genetic investigation of pervasive developmental disorders in the Quebec population." Thesis, McGill University, 2005. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=100369.

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Abstract (sommario):
Pervasive developmental disorders are a group of neurodevelopmental-neuropsychiatric disorders that are characterized by variable and severe pervasive impairments in several areas of child development, notably social interaction, communication and imagination. They all share clinical features but differ in the severity and age of onset of the impairments. Except for Rett Syndrome (RTT), the etiology of these disorders is unknown, but there is strong evidence that genetic factors contribute to their pathogenesis. While no major genes have been linked to theses disorders linkages, association an
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3

Law, Kit-fong Stephanie, and 羅潔芳. "The molecular consequences of Indian hedgehog mutations in distal digit patterning." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2004. http://hub.hku.hk/bib/B31353253.

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4

Morgan, Vera Anne. "Intellectual disability co-occurring with schizophrenia and other psychiatric illness : epidemiology, risk factors and outcome." University of Western Australia. School of Psychiatry and Clinical Neurosciences, 2008. http://theses.library.uwa.edu.au/adt-WU2008.0209.

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Abstract (sommario):
(Truncated abstract) The aims of this thesis are: (i) To estimate the prevalence of psychiatric illness among persons with intellectual disability and, conversely, the prevalence of intellectual disability among persons with a psychiatric illness; (ii) To describe the disability and service utilisation profile of persons with conjoint disorder; (iii) To examine, in particular, intellectual disability co-occurring with schizophrenia; and (iv) To explore the role of hereditary and environmental (specifically obstetric) risk factors in the aetiology of (i) intellectual disability and (ii) intelle
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5

Moers, Virginie. "Contribution à l'étude de la fonction des facteurs BTBD6 et DMRT5 au cours du développement embryonnaire." Doctoral thesis, Universite Libre de Bruxelles, 2008. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/210408.

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Abstract (sommario):
Au cours de ce travail de thèse, nous avons abordé l’étude des gènes BTBD6 et Dmrt5 au cours du développement embryonnaire en utilisant les avantages complémentaires de plusieurs organismes modèles.<p>\<br>Doctorat en Sciences<br>info:eu-repo/semantics/nonPublished
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6

Tosch, Paul. "Investigations of ephrin ligands during development / by Paul Tosch." Thesis, 2002. http://hdl.handle.net/2440/21884.

Testo completo
Abstract (sommario):
"May 2002."<br>Addendum inside back cover.<br>Bibliography: p. 139-157.<br>174 p. : ill. (some col.), col. plates ; 30 cm.<br>Aims to isolate ephrin ligands from Drosophila melanogaster and analyse their involvement in Drosophila deveopment. Also investigates the potential of ephrin B-1 as a causative gene in the human condition Aicardi's syndrome.<br>Thesis (Ph.D.)--University of Adelaide, Dept. of Molecular Biosciences, 2003
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7

Qi, Hongjian. "Computational genomics and genetics of developmental disorders." Thesis, 2018. https://doi.org/10.7916/D8N02QDR.

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Abstract (sommario):
Computational genomics is at the intersection of computational applied physics, math, statistics, computer science and biology. With the advances in sequencing technology, large amounts of comprehensive genomic data are generated every year. However, the nature of genomic data is messy, complex and unstructured; it becomes extremely challenging to explore, analyze and understand the data based on traditional methods. The needs to develop new quantitative methods to analyze large-scale genomics datasets are urgent. By collecting, processing and organizing clean genomics datasets and using these
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8

"Studies of candidate genes for susceptibility to developmental dyslexia." 2012. http://library.cuhk.edu.hk/record=b5934633.

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Abstract (sommario):
讀寫障礙是最普遍的一種學習障礙（80%)，影響全球大約一成的學童。讀寫障礙患者於閱讀及書寫能力方面出現困難，而這並非因為患者本身的智力、學習動機或學習機會引致。對於引至讀寫障礙的理仍未清楚，但在西方人士的遺傳研究方面已發現多個與讀寫障礙相聯的基因位點及基因。本研究針對其中4個基因位點（DYX1 ’ DYX2 ’ DYX3 ’ DKX8)及其覆蓋的11基因測試了 131讀寫障礙的中國人家庭與讀寫障礙的關聯性。是項研究從國際人類基因組單體型圖(HapMap)中選擇標籤單核苷酸多型性(Tag-SNPs)及選擇以往報告與讀寫障礙有關的單核苷酸多型性進行測試。並在DYXZa基因（rs3743205 ’ padjusted =0.0072' OR = 0.08 ( 95% CI: 0.01 - 0.64 ))私MRPL19 (風險單体型rs2422229-rs7570229,風險單体型T-G, Padjusted=0.0020, OR = 2.345 (95% CI: 1.402 - 3.923))發現與讀寫障礙有正關聯性。單核苷酸多態性亦與閱讀的幾個特徵相關：DYX1C1 ( rs3743205 )與快速命名（Digit Rapid Naming ) ’語音記憶（Non-word repetition)，字型結構的左右逆轉（Left-Right Reversal )相關；KIAA0319 (
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9

Queitsch, Christine. "Thermotolerance, buffering of genetic variation and developmental stability : different aspects of chaperone function in the plant Arabidopsis thaliana /." 2001. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&res_dat=xri:pqdiss&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&rft_dat=xri:pqdiss:3029529.

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10

"Pathogenesis of retinoic acid-induced developmental ocular defects studied using mouse models." Thesis, 2009. http://library.cuhk.edu.hk/record=b6074726.

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Abstract (sommario):
As exogenously administered RA suppressed the expression of the RA synthesizing enzymes, further investigation on whether this would lead to deficiency in endogenous RA concentrations was conducted. Results showed that exogenously administered RA significantly reduced the endogenous RA level in the head region with C57 embryos showing a greater reduction than ICR embryos.<br>In addition, detailed morphological and histological studies were conducted to determine if RA treatment caused early embryonic changes with strain difference. When compared with ICR embryos, C57 embryos exhibited more pro
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11

Belarde, James Anthony. "Development of a mouse model of a novel thin lissencephaly variant." Thesis, 2021. https://doi.org/10.7916/d8-t4g7-s810.

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Abstract (sommario):
The human neocortex is a highly sophisticated and organized brain structure that is thought to mediate some of the most complex cognitive functions in humans including language and abstract thought. As such, environmental and genetic insults to its normal structure or function can result in devastating neurological conditions including severe epilepsy and intellectual disability. Malformations of cortical development are an increasing collection of disorders that cause neocortical abnormalities due to impaired developmental processes. One recently identified disorder in this class is a thin li
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12

Myers, Mallory Lynn. "Developmental differences in hypothermic and behavioral responses to ethanol treatment in Alcohol Preferring and Non-Preferring Rats." Thesis, 2012. http://hdl.handle.net/1805/2935.

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Abstract (sommario):
Indiana University-Purdue University Indianapolis (IUPUI)<br>Differences in voluntary consumption of ethanol have been negatively correlated with differences in initial sensitivity and tolerance to ethanol’s pharmacological effects. From this perspective, both adolescent and adult alcohol-nonpreferring (NP) rats would be expected to be initially more sensitive to the sedative and hypothermic effects of ethanol and fail to acquire tolerance to those effects than preferring (P) rats. The first objective of this experiment was to assess alcohol-induced hypothermia and locomotor sedation in adoles
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13

Malik, Raleigh Elizabeth. "The role of DNA methylation in regulating LHX3 gene expression." Thesis, 2014. http://hdl.handle.net/1805/4039.

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Abstract (sommario):
Indiana University-Purdue University Indianapolis (IUPUI)<br>LIM homeodomain 3 (LHX3) is an important regulator of pituitary and nervous system development. To date, twelve LHX3 gene mutations have been identified in patients with combined pituitary hormone deficiency disease (CPHD). Understanding the molecular mechanisms governing LHX3/Lhx3 gene regulation will provide critical insights into organ development pathways and associated diseases. DNA methylation has been implicated in gene regulation in multiple physiological systems. This dissertation examines the role of DNA methylation in regu
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14

Sridhar, Akshayalakshmi. "Transcriptional Regulation of Retinal Progenitor Cells Derived from Human Induced Pluripotent Stem Cells." 2013. http://hdl.handle.net/1805/3454.

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Abstract (sommario):
Indiana University-Purdue University Indianapolis (IUPUI)<br>In order to develop effective cures for diseases and decipher disease pathology, the need exists to cultivate a better understanding of human development. Existing studies employ the use of animal models to study and model human development and disease phenotypes but the evolutionary differences between humans and other species slightly limit the applicability of such animal models to effectively recapitulate human development. With the development of human pluripotent stem cells (hPSCs), including Human induced Pluripotent stem ce
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15

Stringer, Megan Elizabeth. "Effect of Epigallocatechin-3-gallate on a pattern separation task and hippocampal neurogenesis in a mouse model of Down syndrome." Thesis, 2015. http://hdl.handle.net/1805/10037.

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Abstract (sommario):
Indiana University-Purdue University Indianapolis (IUPUI)<br>Down syndrome (DS) is caused by three copies of human chromosome 21 (Hsa21) and results in an array of phenotypes including intellectual disability. Ts65Dn mice, the most extensively studied DS model, have three copies of ~50% of the genes on Hsa21 and display many phenotypes associated with DS, including cognitive deficits. DYRK1A is found in three copies in humans with Trisomy 21 and in Ts65Dn mice, and is involved in a number of critical pathways including CNS development and osteoclastogenesis. Epigallocatechin-3-gallate (EGCG)
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16

Tiwari, Sarika. "Expression of histone deacetylase enzymes in murine and chick optic nerve." Thesis, 2013. http://hdl.handle.net/1805/5045.

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Abstract (sommario):
Indiana University-Purdue University Indianapolis (IUPUI)<br>Epigenetic alterations have been shown to control cell type specification and differentiation leading to the changes in chromatin structure and organization of many genes. HDACs have been well documented to play an important role in both neurogenesis and gliogenesis in ganglionic eminence and cortex-derived cultures. However, the role of HDACs in glial cell type specification and differentiation in the optic nerve has not been well described. As a first step towards understanding their role in glial cell type specification, we have e
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