Keywords: تنوع نسخه کپی; Tourette syndrome; obsessive-compulsive disorder; copy number variation; genetics; 16p13.11
مقالات ISI تنوع نسخه کپی (ترجمه نشده)
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Keywords: تنوع نسخه کپی; Schizophrenia; Functional connectivity; Structural neuroimaging; DTI; VBM; IQ; Striatum; Cognitive control; Default mode network; Copy number variation; Mutation;
Keywords: تنوع نسخه کپی; Genomic rearrangement; Hepatocellular carcinoma; Whole-genome sequencing; Copy number variation;
Keywords: تنوع نسخه کپی; ADHD; Deletion; Copy number variation; Epistasis; CNV; MYT-1;
Keywords: تنوع نسخه کپی; Childhood cancer; Paediatric oncology; Morphological abnormalities; Copy number variation; Structural genome variations; Tumour predisposition;
Keywords: تنوع نسخه کپی; AF; atrial fibrillation; AP; action potential; BrS; Brugada syndrome; BWS; Beckwith-Wiedemann syndrome; Ca2Â +; calcium; CCD; cardiac conduction disease; CNV; copy number variation; CPVT; catecholaminergic polymorphic ventricular tachycardia; DCM; dilat
Keywords: تنوع نسخه کپی; autism; epilepsy; intellectual disability; schizophrenia; copy number variation;
Keywords: تنوع نسخه کپی; Holstein cattle; Copy number variation; SNP; Axiom genome-wide Bos 1 array; Bioinformatics; PennCNV
Keywords: تنوع نسخه کپی; aCGH, array comparative genomic hybridization; CNV, copy number variation; MLPA, multiplex ligation probe amplification; NGS, next generation sequencingAutism; Copy number variation; Comparative genomic hybridization; Neurodevelopmental disorder; MBD2; SL
Keywords: تنوع نسخه کپی; Single cells; Whole genome amplification; Next-generation sequencing; Copy number variation; Pre-implantation genetic diagnosis
Associations between PTPN2 gene polymorphisms and psoriasis in Northeastern China
Keywords: تنوع نسخه کپی; GWAS; genome-wide association studies; NGS; next-generation sequencing; CNV; copy number variation; PTP; protein tyrosine phosphatase; PTPN2; protein tyrosine phosphatase, non-receptor type 2; JAK/STAT; Janus kinase/signal transducers and activators of tr
Two cases of complex balanced autosomal translocations associated with severe oligozoospermia
Keywords: تنوع نسخه کپی; CCR; complex chromosomal rearrangements; CNV; copy number variation; FISH; fluorescent in situ hybridization; Balanced translocation; Fluorescence in situ hybridization; Copy number variants; Oligozoospermia;
Is CYP2D6 phenotype predictable from CYP2D6 genotype?
Keywords: تنوع نسخه کپی; CNV; copy number variation; CYP; cytochrome P450; EM; extensive metabolizer; IM; intermediate metabolizer; PCR; polymerase chain reaction; PM; poor metabolizer; SNP; single nucleotide polymorphism; UM; ultra-rapid metabolizer; CYP2D6 genotype; Genetic pol
Comparison of genetic profiles among primary lung tumor, metastatic lymph nodes and circulating tumor DNA in treatment-naïve advanced non-squamous non-small cell lung cancer patients
Keywords: تنوع نسخه کپی; AF; allelic fractions; ctDNA; circulating tumor DNA; cfDNA; circulating cell-free DNA; CNV; copy number variation; LOF; loss of function; maxAF; maximal AF; NGS; next-generation sequencing; NSCLC; non-small cell lung cancer; PFS; progression-free survival
Bovine pituitary homeobox 2 (PITX2): mRNA expression profiles of different alternatively spliced variants and association analyses with growth traits
Keywords: تنوع نسخه کپی; SNP; single nucleotide polymorphism; CNV; copy number variation; PITX2; pituitary homeobox 2; PITX; paired-like homeodomain transcription factor; PITX2-V1; PITX2-variant 1; GAPDH; glyceraldehyde 3-phosphate dehydrogenase; NCBI; National Center of Biotechn
Characterisation of major histocompatibility complex class IÂ transcripts in an Australian dragon lizard
Keywords: تنوع نسخه کپی; Transcriptome assembly; Iguania; Agamidae; Ctenophorus decresii; MHC class I evolution; MHC; major histocompatibility complex; PBR; peptide binding region; CNV; copy number variation;
Design of Arab Diabetes Gene-Centric Array (ADGCA) in population with an epidemic of Type 2 Diabetes: A population specific SNP evaluation
Keywords: تنوع نسخه کپی; ADGCA; Arab Diabetes Gene Centric Array; AFR; African; ASW; African Ancestry in SW USA; Axiom_GW_Hu_SNP array; Axiom Genome-Wide Human SNP array; CEU; Europeans in Utah; CHB; Han Chinese; CNV; Copy number variation; EMBL-EBI; The European Bioinformatics I
Comprehensive inbred variation discovery in Bama pigs using de novo assemblies
Keywords: تنوع نسخه کپی; BX pig; Bama Xiang pig; BM pig; Bama mini-pig; SNP; single nucleotide polymorphism; Indel; insertion and deletion; SV; structural variation; CNV; copy number variation; GO; Gene Ontology; KEGG; Kyoto Encyclopedia of Genes and Genomes; ADGRE2; adhesion G p
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability
Keywords: تنوع نسخه کپی; Augmented whole-exome sequencing; Copy number variation; Intellectual disability; Molecular diagnosis; Next-generation sequencing; Obesity;
Targeting c-Myc: JQ1 as a promising option for c-Myc-amplified esophageal squamous cell carcinoma
Keywords: تنوع نسخه کپی; Esophageal squamous cell carcinoma; Targeting c-Myc; JQ1; c-Myc amplification; Patient derived xenograft; ESCC; esophageal squamous cell carcinoma; BET; bromodomain and extra-terminal; IC 50; the half maximal inhibitory concentration; NGS; Next-Generation
Molecular and functional characterization of tumor-induced factor (TIF): Hamster homolog of CXCL3 (GROγ) displays tumor suppressive activity
Keywords: تنوع نسخه کپی; CXCL1; CXCL3; CXCR2; GRO; IL-8; MAS; Tumor-induced factor; Chemokine; Ab; antibody; CHO-K1; Chinese hamster ovary-K1; CNV; copy number variation; CXCR2; CXC chemokine receptor 2; CRE; cAMP-response elements; DCIP1; dendritic cell inflammatory protein 1; D
Low responsiveness to a hepatitis B virus vaccine in a Chinese population lacks association with ITGAL, CD58, TNFSF15, CCL15, TGFB3, and BCL6 gene variants
Keywords: تنوع نسخه کپی; Copy number variation; Hepatitis B vaccine; Immune response;
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency
Keywords: تنوع نسخه کپی; C1-INH; C1-inhibitor; C1-INH-HAE; hereditary angioedema due to C1-INH deficiency; CI; confidence interval; MLPA; multiplex ligation-dependent probe amplification; NGS; next-generation sequencing; CNV; copy number variation; SNV; single-nucleotide variant;
Whole exome sequencing identifies a novel 5â¯Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures
Keywords: تنوع نسخه کپی; RTT; Rett syndrome; MECP2; Methyl-CpG-Binding Protein 2; CDKL5; Cyclin Dependent Kinase Like 5; FOXG1; Forkhead Box G1; OMIM; Online Mendelian Inheritance in Man; PRKD1; Protein Kinase D1; NOVA1; Neurooncologic Ventral Antigen 1; c14orf23; Chromosome 14 O
A novel de novo heterozygous deletion at 13q14.2-q21.1 in two siblings with mild intellectual disability
Keywords: تنوع نسخه کپی; ID; Intellectual disability; CNV; Copy number variation; XLID; X-linked intellectual disability; DSM-V; Diagnostic and Statistical Manual of Mental Disorders; NHS; Nance Horan Syndrome; OCRL; Inositol Polyphosphate-5-Phosphatase; aCGH; Array-comparative g
Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis
Keywords: تنوع نسخه کپی; SMEI; severe myoclonic epilepsy of infancy; GTC; generalized tonic-clonic; CXR; chest X-ray; DS; Dravet syndrome; CNV; copy number variation; PKC; protein kinase C; SCN1A gene; Splicing variants; Targeted next generation sequencing; Myoclonic epilepsy of
Copy number variations of SCN5A in Brugada syndrome
Keywords: تنوع نسخه کپی; Brugada syndrome; Copy number variation; Deletion; Duplication; Multiplex ligation-dependent probe amplification; SCN5A;
Role of Dysregulated Cytokine Signaling and Bacterial Triggers in the Pathogenesis of Cutaneous T-Cell Lymphoma
Keywords: تنوع نسخه کپی; CNV; copy number variation; CTCL; cutaneous T-cell lymphoma; MF; mycosis fungoides; SS; Sézary syndrome; TCR; T-cell receptor;
Genetic Alterations in Primary Acral Melanoma and Acral Melanocytic Nevus in Korea: Common Mutated Genes Show Distinct Cytomorphological Features
Keywords: تنوع نسخه کپی; ALM; acral lentiginous melanoma; CNV; copy number variation; NGS; next-generation sequencing; NM; nodular melanoma; SSM; superficial spreading melanoma;
Among autophagy genes, ATG16L1 but not IRGM is associated with Crohn's disease in Iranians
Keywords: تنوع نسخه کپی; ATG16L1; autophagy related Protein16 Linked1; ATG5; autophagy Protein5; CARD15; caspase recruitment domain15; CD; Crohn disease; CNV; copy number variation; EDTA; ethylene diamine tetra acetic acid; IBD; inflammatory bowel disease; IL-23; interleukin 23;
Germline Duplication of SNORA18L5 Increases Risk for HBV-related Hepatocellular Carcinoma by Altering Localization of Ribosomal Proteins and Decreasing Levels of p53
Keywords: تنوع نسخه کپی; Liver Cancer; Human Genetics; SNP; Small Nucleolar RNA; Act.D; actinomycin D; bp; base pairs; CNP; copy number polymorphisms; CNV; copy number variation; GWAS; genome-wide association study; HBV; hepatitis B virus; HCC; hepatocellular carcinoma; MLL; mixe
Genome-wide screening for smallest regions of overlaps in cryptorchidism
Keywords: تنوع نسخه کپی; Chromosomal mutation; Copy number variation; Cryptorchidism; Smallest regions of overlap;
Rare and common variants at 16p11.2 are associated with schizophrenia
Keywords: تنوع نسخه کپی; Schizophrenia; 16p11.2 duplication; Copy number variation; GWAS;
Detection of HER-2 gene copy number variations as a molecular marker in the peripheral blood of women with endometriosis in Iranian population: Case-control study
Keywords: تنوع نسخه کپی; HER-2; human epidermal growth factor receptor 2; T1GFR; type 1 growth factor receptor; EDTA; ethylenediaminetetraacetic acid; Ct; threshold cycle; Biomarker; Copy number variation; Endometriosis; HER-2/neu; Iran; Real-time PCR;
Research articleA part of patients with autism spectrum disorder has haploidy of HPC-1/syntaxin1A gene that possibly causes behavioral disturbance as in experimentally gene ablated mice
Keywords: تنوع نسخه کپی; ADHD; attention-deficit/hyperactivity disorder; ASD; autism spectrum disorder; CNS; central nervous system; CNV; copy number variation; DSM-IV; Diagnostic and Statistical Manual of Mental Disorders-IV; OXT; oxytocin; OXTR; oxytocin receptor; qRT-PCR; real
Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer
Keywords: تنوع نسخه کپی; Allele frequency; Carboxyl-ester lipase; Copy number variation; Genotyping; Pancreatic cancer; Variable number of tandem repeats;
Copy number variations of the IL-22 gene are associated with ankylosing spondylitis: A case-control study in Chinese Han population
Keywords: تنوع نسخه کپی; AS; ankylosing spondylitis; BH; Benjamini-Hochberg; BASFI; Bath Ankylosing Spondylitis Functional Index; BASDAI; Bath Ankylosing Spondylitis Disease Activity Index; CNV; copy number variation; CNP; copy number polymorphism; CI; confidence intervals; CRP;
Association of copy number variations in complement factor H-Related genes among age-related macular degenerative subjects
Keywords: تنوع نسخه کپی; Age-related macular degeneration; Copy number variation; CFH gene; Malaysia;
The research on association of copy number variation in chromosome 9p21 region with atherothrombotic stroke in the Han Chinese population
Keywords: تنوع نسخه کپی; Ischemic stroke; Atherothrombotic stroke; CNV; Copy number variation; 9p21; Genetic variation;
Chromothripsis in Two Patients With Renal Cell Carcinoma: A Case Series
Keywords: تنوع نسخه کپی; Cancer; ccRCC; Chromosome shattering; Copy number variation; Kidney; pRCC; SNP microarray; von Hippel-Lindau syndrome;
Gene copy number variation and protein overexpression of EGFR and HER2 in distal extrahepatic cholangiocarcinoma
Keywords: تنوع نسخه کپی; EGFR; HER2; cholangiocarcinoma; distal; copy number variation;
Chromosome instability in tumor resection margins of primary OSCC is a predictor of local recurrence
Keywords: تنوع نسخه کپی; OSCC; oral cavity squamous cell carcinoma; FISH; fluorescence in situ hybridization; CI; chromosomal instable neoplasia; CIS; carcinoma in situ; LOH; loss of heterozygosity; MPTC; Maastricht Pathology Tissue Collection Department; CNV; copy number variati
Improvements and impacts of GRCh38 human reference on high throughput sequencing data analysis
Keywords: تنوع نسخه کپی; Human reference genome; GRCh37; GRCh38; High throughput sequencing; SNP; Copy number variation; Structural variant;
Neurology Individualized Medicine: When to Use Next-Generation Sequencing Panels
Keywords: تنوع نسخه کپی; ACMG; American College of Medical Genetics and Genomics; bp; base pair; CNV; copy number variation; HGMD; Human Gene Mutation Database; NGS; next-generation sequencing; OMIM; Online Mendelian Inheritance in Man; WES; whole-exome sequencing; WGS; whole-gen
Using hiPSCs to model neuropsychiatric copy number variations (CNVs) has potential to reveal underlying disease mechanisms
Keywords: تنوع نسخه کپی; hiPSC; human induced pluripotent stem cell; CNV; Copy number variation; SNP; Single nucleotide polymorphism; PPI; Paired pulse inhibition; Schizophrenia; CNV; Mouse models; Hipsc models;
Early repolarization syndrome caused by de novo duplication of KCND3 detected by next-generation sequencing
Keywords: تنوع نسخه کپی; Early repolarization syndrome; Copy number variation; KCND3; Molecular diagnosis; Next-generation sequencing;
Pathway analysis of complex diseases for GWAS, extending to consider rare variants, multi-omics and interactions
Keywords: تنوع نسخه کپی; ARTP; adaptive rank truncated product; BMI; body mass index; (r)BEE; (robust) brain-expressed enhancer; CNV; copy number variation; eQTL; expression quantitative trait locus; ESI-MS/MS; electrospray ionization mass spectrometry; eSNP; expression single-nu
Potential influences of complement factor H in autoimmune inflammatory and thrombotic disorders
Keywords: تنوع نسخه کپی; aHUS; atypical haemolytic uremic syndrome; AMD; age-related macular degeneration; aPL; anti-phospholipid antibodies; C3-NeF; C3- nephritic factor; CCP; complement control protein; CEP; Carboxyethylpyrrole; CL; Cardiolipin; CNV; copy number variation; CR;
eTumorType, An Algorithm of Discriminating Cancer Types for Circulating Tumor Cells or Cell-free DNAs in Blood
Keywords: تنوع نسخه کپی; eTumorType; Founding clone; Copy number variation; Non-invasive detection; Cancer;
Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory
Keywords: تنوع نسخه کپی; CNV; copy number variation; LGRs; large genomic rearrangements; HRMA; high resolution melting analysis; ALB; albumin; PV; pathogenic variant; BRCA; BRCA1/2; HBOC; hereditary breast/ovarian cancer; MLPA; multiplex ligation-dependent probe amplification; Tm