Search results for " phenotypic variability"

showing 3 items of 3 documents

Genome-wide analysis identifies potentially causative genes explaining the phenotypic variability in Pinzirita sheep

2019

Genome-wide analysis identifies potentially causative genes explaining the phenotypic variability in Pinzirita sheep

GeneticsGenomeGenome wide analysisPopulation geneticsGeneral MedicineBiologyGenome-wide analysis Pinzirita sheep phenotypic variabilityAnimal Science and Zoology; GeneticsPhenotypeGenomePolymorphism Single NucleotideSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoBiological Variation PopulationItalyPolymorphism (computer science)Biological variationGeneticsAnimalsAnimal Science and ZoologyPinzirita sheepGeneSheep DomesticGenome-Wide Association Study
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

2019

Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. Results: The number of rare likely deleterious variants in functionally intolerant genes (“other hits”) correlated with expression of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in autism probands carrying gene-disruptive variants (n=184, p=0.03) compared with thei…

MaleParents0301 basic medicineProbandNeuronalGenetic Carrier Screening16p11.2 deletion030105 genetics & heredityCognitionFamily historyNeural Cell Adhesion MoleculesGenetics (clinical)Exome sequencingSequence DeletionGeneticsGenetic Carrier ScreeningPhenotypePenetrancePedigreePhenotypeAutistic Disorder/genetics; Autistic Disorder/physiopathology; Cell Adhesion Molecules Neuronal/genetics; Chromosomes Human Pair 16/genetics; Cognition/physiology; DNA Copy Number Variations/genetics; Female; Gene Expression Regulation/genetics; Genetic Background; Genetic Carrier Screening; Humans; Male; Methyltransferases/genetics; Nerve Tissue Proteins/genetics; Parents; Pedigree; Phenotype; Proteins/genetics; Sequence Deletion/genetics; Siblings; 16p11.2 deletion; CNV; autism; modifier; phenotypic variabilityFemaleGenetic BackgroundHumanDNA Copy Number VariationsCell Adhesion Molecules NeuronalCNVautismNerve Tissue ProteinsBiologyChromosomesArticle03 medical and health sciencesmental disordersmedicineHumansAutistic DisorderBiologyGenemodifierPair 16SiblingsCalcium-Binding ProteinsProteinsMethyltransferasesmedicine.disease16p11.2 deletion; autism; CNV; modifier; phenotypic variability; Genetics (clinical)Cytoskeletal Proteins030104 developmental biologyGene Expression Regulation[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsAutismphenotypic variabilityHuman medicine16p11.2 deletion; autism; CNV; modifier; phenotypic variability; Autistic Disorder; Cell Adhesion Molecules Neuronal; Chromosomes Human Pair 16; Cognition; DNA Copy Number Variations; Female; Gene Expression Regulation; Genetic Background; Humans; Male; Methyltransferases; Nerve Tissue Proteins; Parents; Pedigree; Phenotype; Proteins; Sequence Deletion; Siblings; Genetic Carrier ScreeningCell Adhesion MoleculesChromosomes Human Pair 16Transcription FactorsGenetics in Medicine
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Variation in pheno-morphological and agronomic traits among burr medic (Medicago polymorpha L.) populations collected in Sicily, Italy

2010

The present study assessed the diversity of pheno-morphological and agronomic traits among 31 natural populations of burr medic (Medicago polymorpha L.) from different environments throughout Sicily, and analysed the patterns of phenotypic diversity in relation to the environmental parameters of each collection site. Three commercial cultivars (Cavalier, Santiago, and Anglona) were also included in the study as check cultivars. Two field experiments were performed in 2005–06 in a hilly area of the Sicilian inland. Principal components analysis (PCA) was performed on the sites using geographic, climatic, and pedological data to assess the differences in types of collection sites. PCA was al…

Mediterranean climateGenetic diversitybiologyEcologyPhenologyPlant Sciencebiology.organism_classificationlanguage.human_languageSettore AGR/02 - Agronomia E Coltivazioni ErbaceeAnnual medic Mediterranean environment phenotypic variability genetic diversityCropAgronomylanguageMedicago polymorphaCultivarPlant breedingAgronomy and Crop ScienceSicilianCrop and Pasture Science
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