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 “"Williams- Beuren Syndrome"”.
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An in vivo study of GTF2IRD1 function and its contribution to the physical features of Williams Beuren Syndrome
Williams-Beuren Syndrome (WBS) is a complex neurodevelopmental genetic disorder caused by a hemizygous deletion involving up to 28 genes on chromosome 7q11.23. Amongst the spectrum of physical and neurological defects of WBS, it is common to find sensorineural hearing loss (SNHL) and a …
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Rearrangements of 7q11.23: disorders of the epigenome
… disorders. Deletion of this region causes Williams-Beuren syndrome (WS; MIM 194050) and the reciprocal duplication causes 7q11.23 duplication syndrome (Dup7; MIM 609757). Individuals with WS and Dup7 show an array of contrasting and overlapping phenotypes, including variable intellectual …
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Defining the Role of Elastic Fibers in Tendon Mechanics
… by elastinopathic heritable disorders such as Williams-Beuren syndrome, cutis laxa, and Weill-Marchesani syndrome that cause musculoskeletal abnormalities, and by elastin degradation resulting from aging which may lead to increased risk of injury or chronic pain. This work sought to further …
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Genetic and Endocrine Contributions to Behavior and Cognition in a Working Dog Population
… unclear. 2) How is structural variation in the Williams-Beuren Syndrome region associated with cognitive and behavioral phenotypes, including working dog success? This region of dog chromosome 6 was previously implicated in canine sociability and domestication in a small number of dogs and …
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Dissecting the role of AUTS2 and GALNT17 in neurodevelopment using a mouse model for human AUTS2 syndrome
… have been collectively described as the “AUTS2 syndrome.” ID and developmental delay are core features of the AUTS2 syndrome, with some mixture of frankly autistic behaviors, feeding difficulties, epilepsy, microcephaly and craniofacial abnormalities also commonly found. Although there are some …
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Der Plötzliche Säuglingstod
… und zwei die sog. SIDS (=Sudden Infant Death Syndrome)-Fälle umfaßten, die Kategorien drei und vier die Kinder mit aufgedeckter wahrscheinlicher oder sicherer anderer Todesursache. Die durchgeführten Untersuchungen erbrachten folgende Ergebnisse: Die epidemiologischen Daten wie Alter, …
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Aplicación web interactiva para minería de textos: Análisis del Síndrome de Williams-Beuren
… formado por 1580 abstracts, sobre el Síndrome de Williams-Beuren, trastorno del neurodesarrollo que se presenta desde el mismo momento del nacimiento del individuo, provocado por la pérdida de más de veinticinco genes, como GTF2I, GTF2IRD1, GTF2IRD2, ELN, LIMK1, STX1A, BAZIB, BCL7B y F2D9, en el …