Articles with "discordant phenotypes" as a keyword



Untargeted Profiling of Concordant/Discordant Phenotypes of High Insulin Resistance and Obesity To Predict the Risk of Developing Diabetes.

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Published in 2018 at "Journal of proteome research"

DOI: 10.1021/acs.jproteome.7b00855

Abstract: This study explores the metabolic profiles of concordant/discordant phenotypes of high insulin resistance (IR) and obesity. Through untargeted metabolomics (LC-ESI-QTOF-MS), we analyzed the fasting serum of subjects with high IR and/or obesity ( n =… read more here.

Keywords: discordant phenotypes; high insulin; concordant discordant; insulin resistance ... See more keywords

Discordant phenotypes in twins with infantile nystagmus

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Published in 2021 at "Scientific Reports"

DOI: 10.1038/s41598-021-82368-0

Abstract: Infantile nystagmus (IN) may result from aetiologies including albinism and FRMD7 mutations. IN has low prevalence, and twins with IN are rare. Whilst discordant presentation has been previously reported for IN, we present for the… read more here.

Keywords: discordant phenotypes; monozygotic twins; infantile nystagmus; twins infantile ... See more keywords
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Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing

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Published in 2022 at "Genes"

DOI: 10.3390/genes14010082

Abstract: Familial apparently balanced translocations (ABTs) are usually not associated with a phenotype; however, rarely, ABTs segregate with discordant phenotypes in family members carrying identical rearrangements. The current study was a follow-up investigation of four familial… read more here.

Keywords: discordant phenotypes; apparently balanced; phenotypes familial; whole exome ... See more keywords