Articles with "underlying genetic" as a keyword



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Functional hierarchy of the angular gyrus and its underlying genetic architecture

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Published in 2023 at "Human Brain Mapping"

DOI: 10.1002/hbm.26247

Abstract: The angular gyrus (AG), given its rich connectivity and its location where multisensory information converges, is a functionally and anatomically heterogeneous structure. Using the state‐of‐the‐art functional gradient approach and transcription‐neuroimaging association analysis, we sought to… read more here.

Keywords: angular gyrus; genetic architecture; underlying genetic; dominant gradient ... See more keywords
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Ependymomas in infancy: underlying genetic alterations, histological features, and clinical outcome

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Published in 2020 at "Child's Nervous System"

DOI: 10.1007/s00381-020-04655-x

Abstract: Introduction Young age is an adverse prognostic factor in children with ependymomas. Treatment of these infants is challenging since beneficial therapeutic options are limited. As ependymomas are considered a biologically heterogeneous group, we aimed to… read more here.

Keywords: underlying genetic; posterior fossa; ependymomas; infancy underlying ... See more keywords
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Transcriptomic and genomic variants between koala populations reveals underlying genetic components to disorders in a bottlenecked population

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Published in 2021 at "Conservation Genetics"

DOI: 10.1007/s10592-021-01340-7

Abstract: Historical hunting pressures on koalas in the southern part of their range in Australia have led to a marked genetic bottleneck when compared with their northern counterparts. There are a range of suspected genetic disorders… read more here.

Keywords: genomic variants; population; variants koala; two populations ... See more keywords
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Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

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Published in 2019 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms20194854

Abstract: Phenotypes observed in a large cohort of patients with cone and cone-rod dystrophies (COD/CORDs) are described based on multimodal retinal imaging features in order to help in analyzing massive next-generation sequencing data. Structural abnormalities of… read more here.

Keywords: underlying genetic; genetic defects; rod dystrophies; cone cone ... See more keywords
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Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms232416007

Abstract: Inherited retinal diseases can result from various genetic defects and are one of the leading causes for blindness in the working-age population. The present study aims to provide a comprehensive description of changes in retinal… read more here.

Keywords: underlying genetic; layer; inherited retinal; retinal layer ... See more keywords