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 5 of 5 for “"Optic nerve hypoplasia"”.
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Cell-specific roles for CASK in the pathology of Optic Nerve Hypoplasia
Optic Nerve Hypoplasia (ONH) is the leading cause of childhood blindness in developed nations and its prevalence has been rising. Yet, we know little about the genetic, molecular, or cellular mechanisms underlying ONH. A previous study described ONH in a cohort of patients with mutations in CASK, …
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The identification and measurement of autistic features in children with optic nerve hypoplasia, "isolated" hypopituitarism and varying combinations of septo-optic Dysplasia
… have identified that some children with Septo Optic Dysplasia and Optic Nerve Hypoplasia demonstrate autistic phenomenology (Parr et al., 2008; Ek et al., 2005; Pring & Ockelford 2005; Bahar et al., 2003). It was found in fifty-six children, aged between four to sixteen, with isolated …
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Mechanism of CASK-linked ophthalmological disorders
… and microcephaly with pontine and cerebellar hypoplasia (MICPCH, OMIM# 300749). CASK mutations are also frequently associated with optic nerve hypoplasia (ONH) which is the most common cause of childhood blindness in developed countries. Some patients with mutations in CASK have been also …
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The role of <em>Pax7</em> in the formation of the superior colliculus and the vertebrate visual system
… reduced Pax7 protein levels as a result of optic nerve hypoplasia. These results demonstrate a responsive role for Pax7 in retinocollicular mapping, and therefore visual system development. Examination of Pax7 mutant mice divulged a greater understanding of the role of Pax7 during superior …
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The Role of CASK in Central Nervous System Function and Disorder
… in microcephaly with pontine and cerebellar hypoplasia (PCH) and also optic nerve hypoplasia (ONH) in heterozygous mutations. Herein, I used various molecular and genetic strategies to uncover the role of the CASK protein in brain function and pathogenesis of cerebellar hypoplasia associated …