CNV resolution does not cause NoGo anteriorisation of the P3: A failure to replicate Simson et al.
Keywords: Go/NoGo; Inhibition; Cue; Fixed interval; Component overlap; CNV;
مقالات ISI (ترجمه نشده)
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Regenerative Nanomedicine for Vision Restoration
Keywords: AAQ; acrylamide-azobenzene-quaternary ammonium; ChR2; channelrhodopsin-2; CNV; choroidal new vessel; ECM; extracellular matrix; GDNF; glial cell line-derived neurotrophic factor; HaloR; halorhodopsin; IOP; intraocular pressure; PCL; poly(ε-caprolactone
Cytochrome P450 enzymes in drug metabolism: Regulation of gene expression, enzyme activities, and impact of genetic variation
Keywords: Biotransformation; Cytochrome P450 monooxygenase; NADPH:cytochrome P450 reductase; Pharmacogenetics; Polymorphism; Xenobiotic; ADME; absorption, distribution, metabolism, excretion; ADR; adverse drug reaction; AhR; aromatic hydrocarbon receptor; CNV; copy
15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria
Keywords: Pediatric epilepsy; IGE; Epilepsy syndrome; CNV; 15q13.3; Deletion;
Tyrosine ameliorates heat induced delay in event related potential P300 and contingent negative variation
Keywords: Tyrosine; Heat stress; P300; CNV; Reaction time
Génétique des schizophrénies : mise en perspective des schizophrénies à début précoce et autres pathologies du développement
Keywords: Schizophrénie; Génétique; Début précoce; CNVSchizophrenia; Genetics; Early onset; CNV
Parafac and go/no-go: Disentangling CNV return from the P3 complex by trilinear component analysis
Keywords: CNV; P3; Go/no-go; Trilinear analysis; Parafac; PCA
Exogenous orienting of visual-spatial attention in ADHD children
Keywords: ADHD; Exogenous orienting; Visual attention; ERP; CNV
Evidence From Human and Zebrafish That GPC1 Is a Biliary Atresia Susceptibility Gene
Keywords: GWA; Susceptibility Loci; Animal Model; Bile Duct Growth and Development; BA; biliary atresia; CHOP; The Children's Hospital of Philadelphia; CN; copy number; CNV; copy number variant; DAPI; 4â²,6-diamidino-2-phenylindole; dpf; days postfertilization; GW
The genomically mosaic brain: Aneuploidy and more in neural diversity and disease
Keywords: Aneuploidy; Genome; Mosaicism; Somatic mutation; CNS; CNV
15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism
Keywords: ID; intellectual delay; PWS; Prader-Willi syndrome; AS; Angelman syndrome; ADHD; attention deficit hyperactivity disorder; ASD; autistic spectrum disorder; array CGH; array-based comparative genomic hybridisation; CNV; copy number variants; 15q11.2 dele
Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly
Keywords: CHD7; Duplication 8q12; SNP array; Dosage sensitive gene; Copy number variation; CNV; Congenital heart defect;
Short CommunicationGenome-wide screening of severe male factor infertile patients using BAC-array comparative genomic hybridization (CGH)
Keywords: CGH; comparative genomic hybridization; BAC; bacterial artificial chromosome; IVF; in vitro fertilization; ICSI; intracytoplasmic sperm injection; PHA; phytohemagglutinin; AZF; azoospermic factor; CNV; copy number variant; STS; sequence tagged site; Male
Long-term neurological outcome of term-born children treated with two or more anti-epileptic drugs during the neonatal period
Keywords: AEDs; anti-epileptic drugs; aEEG; amplitude integrated electro-encephalography; BS; burst suppression; CFM; Cerebral Function Monitor; CLV; continuous low voltage; CNV; continuous normal voltage; CI; confidence interval; CP; cerebral palsy; DNV; discontin
Complexity of a complex trait locus: HP, HPR, haemoglobin and cholesterol
Keywords: HP; haptoglobin gene; HPR; haptoglobin-related protein gene; LD; linkage disequilibrium; Hb; haemoglobin; CNV; copy number variant; GWAS; genome-wide association study; TC; total cholesterol; LDL-C; low density lipoprotein cholesterol; HDL-C; high density
Modafinil improves event related potentials P300 and contingent negative variation after 24 h sleep deprivation
Keywords: Sleep deprivation; Modafinil; Subjective sleepiness; P300; CNV
Short CommunicationDesign and analysis of multiple diseases genome-wide association studies without controls
Keywords: AAASC; Australo-Anglo-American Spondylitis Consortium; AITD; autoimmune thyroid disease; AS; ankylosing spondylitis; BC; breast cancer; CATT; Cochran-Armitage trend test; CNV; copy number variant; CSP; chi-square partition; df; degrees of freedom; GWAS;
CCL3L gene copy number and survival in an HIV-1 infected Zimbabwean population
Keywords: CCL3L; CNV; HIV survival; CCL3 protein;
Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia
Keywords: CNV; Schizophrenia; WTCCC;
Electrophysiological markers of the motivational salience of delay imposition and escape
Keywords: Delay aversion; ADHD; Event-related potential; CNV; LPP;
How many genes are involved in schizophrenia? A simple simulation
Keywords: CNV; copy number variation; HWE; Hardy-Weinberg Equilibrium; GP; general population; MAF; minor allele frequency; NP; non-patient population; OR; odds ratio; PP; patient population; SN; sample number; pG_; genotype frequency (in designated population);
Differential effects of methylphenidate and atomoxetine on attentional processes in children with ADHD: An event-related potential study using the Attention Network Test
Keywords: MPH; methylphenidate; ATX; atomoxetine; ADHD; attention deficit/hyperactivity disorder; ANT; Attention Network Test; ERPs; event-related potentials; CNV; contingent negative variation; DA; dopamine; NA; noradrenaline; FBB-HKS; German ADHD rating scale; SD
Integrative gene network analysis provides novel regulatory relationships, genetic contributions and susceptible targets in autism spectrum disorders
Keywords: CNV, copy number variation; GWAS, genome wide association study; SNP, single nucleotide polymorphism; CNN, CNV-centric node networkAutism; Genetics; Genomics; CNV; Systems biology
Changes in event-related potentials associated with postural adaptation during floor oscillation
Keywords: AH; abductor hallucis; ANOVA; analysis of variance; BF; biceps femoris; C7; vertebra prominens; CC; cross-correlation coefficient; CNV; contingent negative variation; CoPy; center of foot pressure in the anteroposterior direction; CV; coefficient of varia
Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features
Keywords: ADHD; Attention-deficit/hyperactivity disorder; CNV; Copy number variation; FISH; Fluorescence in situ hybridization; ICR1; Imprinting control region 1; IGF; Insulin-like growth factor; PCR; Polymerase chain reaction; RefSeq; Reference Sequence; SRS; Silv
Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism
Keywords: Autism; CNV; copy number variation; GABA; histamine; Tourette syndrome
DISC1-binding proteins in neural development, signalling and schizophrenia
Keywords: DISC1; Schizophrenia; Neurodevelopment; Signalling; Synapse; Association studies; APP; Amyloid precursor protein; ATF4; Activating transcription factor 4; BACE1; β-site APP-cleaving enzyme-1; BBS4; Bardet-Biedl syndrome 4; CEP290; Centrosomal protein 2
Polymorphisms in androgen signaling pathway predisposing to prostate cancer
Keywords: AKR1C3; 3α-hydroxysteroid dehydrogenase; AR; androgen receptor; CNV; copy number variation; CYP; cytochrome P450; DHEA; dehydroepiandrosterone; DHT; dehydrotestosterone; HSD17B; 17β-hydroxysteroid dehydrogenase; HSD3B; hydroxy-δ-5-steroid dehydrogenase
RNA therapeutics targeting osteoclast-mediated excessive bone resorption
Keywords: 3BP2; c-Abl SH3 domain-binding protein-2; ADAM; a disintegrin and metalloproteinases; Ago; Argonaute; AP-1; activator protein-1; Ckb; brain-type creatine kinase; CNV; choroidal neovascularization; CPA; cation-proton antiporter; CPC; calcium phosphate bone
Age-related macular degeneration and the complement system
Keywords: AMD; age-related macular degeneration; AREDS; Age-Related Eye Disease Study; BM; Bruch's membrane; CEP; carboxyethylpyrrole; C1, C2, etc.; complement C1, complement C2, etc.; CFB; complement factor B; CFD; complement factor D; CFH; complement factor H; CF
Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure
Keywords: Premature ovarian failure; POF; copy number; CNV; microdeletion and microduplication; SNP microarray; POI; array CGH; chromosomal microarray
De Novo Rates and Selection of Schizophrenia-Associated Copy Number Variants
Keywords: Autism; CNV; de novo; mutation; persistence; schizophrenia; selection
Altered glyoxalase 1 expression in psychiatric disorders: Cause or consequence?
Keywords: AX; anxious (inbred mice); AGE; advanced glycation end (products); BPD; bipolar disorder; Btbd9; BTB (POZ) domain containing 9; DLB; dark/light box; CNV; copy number variant; Dnahc8; dynein axonemal heavy chain 8; DSM-IV; diagnostic and statistical manual
Screening for Copy Number Variation in Genes Associated With the Long QT Syndrome : Clinical Relevance
Keywords: CNV; deletion; long QT syndrome; MLPA; sudden deathCGH, comparative genomic hybridization; CNV, copy number variant; dHPLC, denaturing high-performance liquid chromatography; ECG, electrocardiogram/eclectrocardiographic; ICD, implantable cardioverter-defi
Children with autism spectrum disorders (ASD) who exhibit chronic gastrointestinal (GI) symptoms and marked fluctuation of behavioral symptoms exhibit distinct innate immune abnormalities and transcriptional profiles of peripheral blood (PB) monocytes
Keywords: α-LA; α-lactoalbumin; β-LG; β-lactoglobulin; AC; allergic conjunctivitis; AR; allergic rhinitis; ASD; autism spectrum disorder; ASD-IS; ASD-immune subtype; BMDM cells; bone marrow derived microglial cells; CNS; central nervous system; CNV; copy number
Glyoxalase in ageing
Keywords: AGE; advanced glycation endproduct; CEdG; N2-(1-carboxyethyl)-deoxyguanosine; CEL; NÉ-carboxyethyl-lysine; CMA; NÏ-carboxymethylarginine; CMdG; N2-carboxymethyl-deoxyguanosine; CML; NÉ-carboxymethyl-lysine; CMhL; NÉ-carboxymethyl-hydroxylysine; CNV; c
Genetics and epigenetics of obesity
Keywords: BMI; body mass index; WC; waist circumference; WHR; waist:hip ratio; T2D; type-2-diabetes; LD; linkage disequilibrium; CNV; copy number variants; PWS; Prader-Willi syndrome; QTL; quantitative trait loci; SNP; single nucleotide polymorphism; Genetic; Epi
Glyoxalase in diabetes, obesity and related disorders
Keywords: AGE; advanced glycation endproducts; AKR; aldoketo reductase; BBGD; S-p-bromobenzylglutathione cyclopentyl diester; CEL; NÉ-carboxyethyl-lysine; CMA; NÏ-carboxymethylarginine; CML; NÉ-carboxymethyl-lysine; CNV; copy number variation; CVD; cardiovascula
A neurophysiological evaluation of a cognitive cycle in humans
Keywords: Preparation; Evaluation; Trial-by-trial learning; CNV; P3a; P3b; Bayesian brain;
Rapid, cell-based toxicity screen of potentially therapeutic post-transcriptional gene silencing agents
Keywords: post-transcriptional gene silencing; high throughput screening; AP-1; activator protein; CNV; choroidal neovascularization; CRE; cyclic AMP response element; DMEM/F12; Dulbecco's modified essential medium; dsRNA; double stranded RNA; HEK293S; human embr
The non-antibiotic properties of tetracyclines: Clinical potential in ophthalmic disease
Keywords: ARMD; age-related macular degeneration; CMT; chemically modified tetracyclines; CNV; choroidal neovascularization; KNV; corneal neovascularization; IL; interleukin; MMP; matrix metalloproteinase; MG; meibomian gland; NO; nitric oxide; PEDF; pigment-epithe
The influence of temporal asynchrony on multisensory integration in the processing of asynchronous audio-visual stimuli of real-world events: an event-related potential study
Keywords: asynchronous; multisensory; video; event-related potentials; A; unisensory-auditory; AV; audio-visual condition; A_V; auditory before visual condition; CNV; contingent negative variation; ERPs; event-related potentials; SOA; stimulus onset asynchrony; V;
The neural correlates of cognitive effort in anxiety: Effects on processing efficiency
Keywords: Anxiety; Attentional control; ERP; CNV; Processing efficiency; Effort;
Event-related potential correlates of the interaction between attention and spatiotemporal context regularity in vision
Keywords: spatiotemporal context regularity; attention; task-relevance; N1 latency-shift; extrastriate cortex; CNV; contingent negative variation; CRF; classical receptive field; EOG; electro-oculogram; ERP; event-related potential; RT; response time; SE; standard
Rare NRXN1 promoter variants in patients with schizophrenia
Keywords: Neurexin; Schizophrenia; Bipolar disorder; Autism; CNV; Copy variant
Taking qPCR to a higher level: Analysis of CNV reveals the power of high throughput qPCR to enhance quantitative resolution
Keywords: qPCR; Real-time PCR; Digital PCR; Copy number variation; CNV; Microfluidic array; High throughput qPCR
Robust CYP2D6 genotype assay including copy number variation using multiplex single-base extension for Asian populations
Keywords: CYP2D6; Multiplex SBE; Korean; Asian; Polymorphism; CNV
Phenotypic and genomic analysis of an exceptional case of enteropathy associated T-cell lymphoma
Keywords: CD; coeliac disease; CGH; comparative genomic hybridisation; CNV; copy number variants; EATL; enteropathy associated T-cell lymphoma; EMA; endomysial antibodies; FACS; flowcytometry; GFD; gluten free diet; IEL; intraepithelial lymphocytes; LPL; lamina pro
A genome wide association study between copy number variation (CNV) and human height in Chinese population
Keywords: CNV; human height; GWAS; Affymetrix 500K array