Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 8 of 8 for “"1p36"”.
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Self Injury in 1p36 deletion syndrome
Studies of 1p36 deletion syndrome have focused on physical characteristics with limited exploration of the behavioural phenotype. When behavioural features have been reported, self-injury and aggression are noted. This study aimed to describe these behaviours and investigate aetiology. The …
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Kartierung eines Genorts für Nephronophthise Typ 4 auf Chromosom 1p36 durch reverse Homozygotie-Kartierung
… ergab sich eine Region auf Chromosom 1p36 an welcher fünf der sechs untersuchten Familien mit Kopplung vereinbar waren. Im Folgenden wurde an dieser Stelle eine Feinkartierung mit Hilfe von polymorphen DNA-Markern in einer 22,9 cM umfassenden Region zwischen den Markern D1S243 und …
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An investigation of sociability: delineating a behavioural and social phenotype for Monosomy 1p36 Deletion Syndrome
There is a substantial body of research indicating that compromised social functioning for individual with intellectual disabilities can have far reaching implications for quality of life, community participation and well being. As the implications of such findings are so important for people with …
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Arid1a Haploinsufficiency Initiates Neural Crest Transformation in a Mouse Model of Mycn-driven Neuroblastoma
… supported ARID1A’s candidacy as a putative 1p36 TSG in MYCN-driven NBL. This study aimed to causally test Arid1a loss during Mycn-driven NBL initiation through the development of a mouse model of high risk NBL.In this study, we modified a Mycn-driven mouse model of NBL to incorporate Cre …
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A literature review into Parents' experiences of raising a child with a disability, and research exploring mothers' experiences of receiving a diagnosis of Monosomy 1P36 deletion syndrome for their child
… experiences of receiving a diagnosis of Monosomy 1p36 Deletion Syndrome for their child. A meta-synthesis of six papers meeting inclusion and quality criteria is presented within this review. Overarching themes derived from the papers included two risk factors: Experiences and Challenges; and two …
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Genomic Characterization of Recurrent Chromosomal Aberrations in Retinoblastoma
… by pRb expression and aggressive histology. 1p36 deletion is also associated with MYCN amplification in neuroblastoma. Our project is testing the hypothesis that 1q and 6p gain and 2p amplification – defined by extra copies of KIF14 and MDM4, DEK and E2F3 and MYCN respectively, and 1p36 …
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Ube4B Levels Determine The Efficacy of Egfr and Stat5 Inhibitors In Treatment Resistant Neuroblastoma
… the UBE4B gene lies in a chromosomal region (1p36) whose loss is correlated with poor patient outcomes due to inefficient EGFR degradation and enhanced cell proliferation. We examined whether depletion of UBE4B in a chemoresistant neuroblastoma cell line would affect tumor responses to drugs …
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Entwicklung neuer molekularzytogenetischer Verfahren für die Tumordiagnostik
… bestehender Pool zusammengestellt (Zelllinien: 1p36, 1q12 (Kontrolle), 2p24 (MYCN), 11p15 (Kontrolle), 11q23, 17p12 (Kontrolle) und 17q25; Gewebeschnitte: 1p36, 2p24 (MYCN), 11q23 und 17q25). Außerdem wurden spezielle Protokolle entwickelt, um eine möglichst hohe Hybridisierungseffizienz zu …