Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02301-3
Abstract: Waardenburg syndrome (WS) is a phenotypically and genetically heterogeneous disorder characterised by hearing loss and pigmentary abnormalities. We clarified the clinical and genetic features in 90 Chinese WS probands. Disease-causing variants were detected in 55… read more here.
Keywords: genotype phenotype; chinese probands; phenotype relationships; waardenburg syndrome ... See more keywords
How Tasks Change Whole-Brain Functional Organization to Reveal Brain-Phenotype Relationships.
Sign Up to like & getrecommendations! Published in 2020 at "Cell reports"
DOI: 10.1016/j.celrep.2020.108066
Abstract: Functional connectivity (FC) calculated from task fMRI data better reveals brain-phenotype relationships than rest-based FC, but how tasks have this effect is unknown. In over 700 individuals performing seven tasks, we use psychophysiological interaction (PPI)… read more here.
Keywords: task; phenotype relationships; brain functional; functional organization ... See more keywords
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2019.01404
Abstract: Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive diseases caused by mutations in genes encoding ion channels that participate in… read more here.
Keywords: genotype phenotype; phenotype relationships; myotonic channelopathies; date overview ... See more keywords
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14010222
Abstract: The SOX transcription factor family is pivotal in controlling aspects of development. To identify genotype–phenotype relationships of SOX proteins, we performed a non-biased study of SOX using 1890 open-reading frame and 6667 amino acid sequences… read more here.
Keywords: phenotype relationships; sox; genotype; hmg box ... See more keywords