Articles with "duplication chromosome" as a keyword



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Generation of induced pluripotent stem cell GZHMCi005-A from amniotic fluid-derived cells with duplication of chromosome 8p.

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Published in 2021 at "Stem cell research"

DOI: 10.1016/j.scr.2021.102226

Abstract: Cases in which the duplication of chromosome 8p (dup 8p) is observed are characterized by facial dysmorphism, agenesis/hypoplasia of the corpus callosum, heart defects and severe mental retardation. The frequency of dup 8p cases is… read more here.

Keywords: cells duplication; stem cell; amniotic fluid; duplication chromosome ... See more keywords
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Interstitial Duplication on Chromosome 3p14.3p13 in an Adolescent with Dysmorphic Features and Autism, Case Report

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Published in 2022 at "American Journal of Clinical Pathology"

DOI: 10.1093/ajcp/aqac126.092

Abstract: The genetic etiology of autism spectrum disorders is only partially understood. Here we describe a 16-year-old male diagnosed with autism at two years of age. He has dysmorphic features, severe cognitive disability, and history of… read more here.

Keywords: case report; interstitial duplication; duplication chromosome; dysmorphic features ... See more keywords
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Gene duplication to the Y chromosome in Trinidadian Guppies

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Published in 2022 at "Molecular Ecology"

DOI: 10.1111/mec.16355

Abstract: Differences in allele frequencies at autosomal genes between males and females in a population can result from two scenarios. First, unresolved sexual conflict over survival can produce allelic differentiation between the sexes. However, given the… read more here.

Keywords: duplication chromosome; gene duplication; sexual conflict; chromosome ... See more keywords