Search results for " CNV"

showing 5 items of 5 documents

A Comparative Analysis of Copy Number Variation of the Sheep and Goat Genomes

2010

Recent studies have shown that copy number variants (CNVs) are important sources of variability of mammalian genomes. We applied a cross species array comparative genome hybridization (aCGH) experiment using as reference the cattle genome to investigate, for the first time, variability in the sheep and goat genomes derived from copy number variation and identified 431 and 358 CNVs, respectively. A comparison of these results to those obtained in other mammals for similar experiments is reported. The identified CNVs could be important in determining phenotypic and production differences between and within breeds. Further studies will be carried out to evaluate the identified CNVs from both f…

COMPARATIVE GENOMICSSettore AGR/17 - Zootecnica Generale E Miglioramento Geneticocongenital hereditary and neonatal diseases and abnormalitiescomparative analysis CNV sheep goatendocrine system diseasesSHEEPmental disordersGOATGENOMESCOPY NUMBER VARIATION
researchProduct

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
researchProduct

A randomized trial of intravitreal bevacizumab vs. ranibizumab for myopic CNV.

2014

AIMS: The aim was to compare the efficacy of intravitreal therapy with bevacizumab and ranibizumab for choroidal neovascularization (CNV) in pathologic myopia (PM). METHODS: This was a prospective multicenter randomized nonblinded trial. RESULTS: In seven centers, 78 eyes were randomized 1:1 to treatment with bevacizumab (group B, 40 eyes) or ranibizumab (group R, 38 eyes) given with an "on demand" regimen (PRN). The mean follow-up was 19 months (SD 2, range 12-24). The mean BCVA at baseline was 0.60 logMAR (20/80 Snellen equivalent, Seq) and 50 letter score (ls). Mean final BCVA was 0.51 LogMAR (20/63 Seq) and 57 ls (p = 0.0009 and p = 0.0002, respectively). In group B, mean basal BCVA was…

MaleVascular Endothelial Growth Factor AVisual Acuity/drug effectsVisual acuitygenetic structuresVisual AcuityAngiogenesis Inhibitorslaw.inventionBevacizumab/therapeutic use0302 clinical medicineRandomized controlled triallawMyopiaMedicineProspective StudiesProspective cohort studyPathological myopiaAged 80 and overMiddle AgedSensory SystemsBevacizumabVascular endothelial growth factor AChoroidal neovascularizationIntravitreal InjectionsMyopia DegenerativeFemalemedicine.symptommedicine.drugAdultmedicine.medical_specialtyBevacizumabNeuroscience(all)CNVBevacizumab; CNV; Pathological myopia; Ranibizumab.Antibodies Monoclonal HumanizedRanibizumab/therapeutic use03 medical and health sciencesCellular and Molecular NeuroscienceOphthalmologyRanibizumabVascular Endothelial Growth Factor A/antagonists & inhibitorsHumansAngiogenesis Inhibitors/therapeutic useIntravitreal bevacizumabAgedpathological myopia CNV bevacizumab ranibizumabSettore MED/30 - Malattie Apparato Visivobusiness.industryTherapeutic effectChoroidal Neovascularization/drug therapyeye diseasesChoroidal NeovascularizationOphthalmologyRegimen030221 ophthalmology & optometryMyopia Degenerative/drug therapysense organsRanibizumabbusiness030217 neurology & neurosurgeryFollow-Up StudiesGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
researchProduct

Il neurone autistico: analisi funzionale in silico dei geni coinvolti nelle Copy Number Variants

2009

Settore BIO/13 - Biologia ApplicataGene ontology Autism CNV
researchProduct

Epilessia e disturbi dello spettro autistico: c'è un rischio genetico condiviso ?

2011

Settore BIO/13 - Biologia Applicataautismo CNV epilessia
researchProduct