Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.50895
Abstract: Variants in GABRA1 have been associated with different epilepsies ranging from mild generalized forms to epileptic encephalopathies. Despite the broad clinical spectrum, phenotypes were found to be largely concordant within families. Contrary to this observation,… read more here.
Keywords: phenotypic variability; gabra1 related; related epilepsy; variability gabra1 ... See more keywords
Low genetic diversity contrasts with high phenotypic variability in heptaploid Spartina densiflora populations invading the Pacific coast of North America
Sign Up to like & getrecommendations! Published in 2018 at "Ecology and Evolution"
DOI: 10.1002/ece3.4063
Abstract: Abstract Species can respond to environmental pressures through genetic and epigenetic changes and through phenotypic plasticity, but few studies have evaluated the relationships between genetic differentiation and phenotypic plasticity of plant species along changing environmental… read more here.
Keywords: phenotypic variability; genetic diversity; phenotypic; densiflora ... See more keywords
Phenotypic Variability with Two Novel Variants in SPG15: Catching the Lynx by its Ears
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13474
Abstract: Hereditary spastic paraplegia (HSP) syndrome is a group of inherited, progressive, neurodegenerative disorders with clinical, radiological, and genetic heterogeneity. The core clinical feature is lower limb spasticity with variable dorsal column involvement. However, other neurological… read more here.
Keywords: variability two; novel variants; phenotypic variability; two novel ... See more keywords
Phenotypic variability in LQT3 human induced pluripotent stem cell-derived cardiomyocytes and their response to antiarrhythmic pharmacologic therapy: An in silico approach
Sign Up to like & getrecommendations! Published in 2017 at "Heart Rhythm"
DOI: 10.1016/j.hrthm.2017.07.026
Abstract: Background Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) are in vitro models with the clear advantages of their human origin and suitability for human disease investigations. However, limitations include their incomplete characterization and variability reported… read more here.
Keywords: phenotypic variability; variability lqt3; hipsc cms; variability ... See more keywords
Project Y: the search for clues explaining phenotype variability in MS
Sign Up to like & getrecommendations! Published in 2021 at "Multiple Sclerosis and Related Disorders"
DOI: 10.1016/j.msard.2021.103337
Abstract: Abstract Background To study phenotypic variability in MS patients, well-defined unbiased cohort studies are necessary. The most common and probably most important confounding factor when studying disease phenotype in MS is age. Objective To describe… read more here.
Keywords: phenotypic variability; search clues; project; project search ... See more keywords
The phenotypic variability of HK1-associated retinal dystrophy
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-07629-3
Abstract: Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The same IRD-causing variant may lead to different retinal symptoms, demonstrating pleiotropic phenotype traits influenced by both… read more here.
Keywords: phenotypic variability; dystrophy; variant; hk1 associated ... See more keywords
Genomic, metabolic and phenotypic variability shapes ecological differentiation and intraspecies interactions of Alteromonas macleodii
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-57526-5
Abstract: Ecological differentiation between strains of bacterial species is shaped by genomic and metabolic variability. However, connecting genotypes to ecological niches remains a major challenge. Here, we linked bacterial geno- and phenotypes by contextualizing pangenomic, exometabolomic… read more here.
Keywords: phenotypic variability; ecological differentiation; variability; alteromonas macleodii ... See more keywords
Macular Atrophy and Phenotypic Variability in Autosomal Dominant Stargardt-like Macular Dystrophy due to PROM1 mutation.
Sign Up to like & getrecommendations! Published in 2023 at "Retina"
DOI: 10.1097/iae.0000000000003784
Abstract: PURPOSE To describe the phenotypic variability and rates of progression of atrophy in patients with PROM1-associated macular dystrophy (PAMD). METHODS Patients in this retrospective, longitudinal case series from a tertiary center had clinical exam and… read more here.
Keywords: macular dystrophy; mm2 year; phenotypic variability; atrophy ... See more keywords
Phenotypic variability in Muenke syndrome-observations from five Danish families.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000300
Abstract: Muenke syndrome is a craniosynostosis syndrome associated with the p.Pro250Arg mutation in FGFR3. An increasing number of individuals with this mutation are reported to not have craniosynostosis. The purpose of this report is to increase… read more here.
Keywords: craniosynostosis; variability muenke; muenke syndrome; phenotypic variability ... See more keywords
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Genetics"
DOI: 10.1111/cge.13468
Abstract: Waardenburg syndrome (WS) is a disorder of neural crest cell migration characterized by auditory and pigmentary abnormalities. We investigated a cohort of 14 families (16 subjects) either by targeted sequencing or whole‐exome sequencing. Thirteen of… read more here.
Keywords: phenotypic variability; heterogeneity; pathogenic variant; waardenburg syndrome ... See more keywords
H syndrome: A review of treatment options and a hypothesis of phenotypic variability
Sign Up to like & getrecommendations! Published in 2021 at "Dermatologic Therapy"
DOI: 10.1111/dth.15082
Abstract: H syndrome is a rare autosomal recessive disorder with clinical features comprising: hyperpigmentation, hypertrichosis, hearing loss, heart anomalies, low height, hypogonadism and hepatosplenomegaly. H syndrome results from loss‐of‐function mutations in SLC29A3 which leads to abnormal… read more here.
Keywords: phenotypic variability; syndrome review; treatment options; variability ... See more keywords