دانلود مقالات ISI درباره CNV، تغییر شماره نسخه + ترجمه فارسی

عدم توافق ژنومی متغیر درون تومور ضایعات متعدد در بیماران مبتلا به کارسینوم هپاتوسلولار

Variable Intra-Tumor Genomic Heterogeneity of Multiple Lesions in Patients With Hepatocellular Carcinoma

Keywords: CNV، تغییر شماره نسخه; Liver Cancer; Metastasis; Spread; PathogenesiscHCC-ICC, combined hepatocellular and intrahepatic cholangiocarcinoma; CNV, copy number variation; HBV, hepatitis B virus; HCC, hepatocellular carcinoma; ICC, intrahepatic cholangiocarcinoma; IM, intrahepatic

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2016 سفارش ترجمه

تجزیه و تحلیل ژنوم از تغییرات تعداد کپی در گوسفند چینی با استفاده از ارقام هیبریداسیون ژنومی مقایسه ای

Genome-wide analysis of copy number variations in Chinese sheep using array comparative genomic hybridization

Keywords: CNV، تغییر شماره نسخه; Array comparative genomic hybridization; Copy number variation; Phenotypic variationaCGH, array comparative genome hybridization; ASIP, agouti signaling protein; CNV, copy number variation; CNVR, CNV region; Ct, crossing thresholds; DAVID, the database fo

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2015 سفارش ترجمه

مطالعات ارتباطی ژنوم چربی بافت چربی: افزایش سیناپس

Genome-wide association studies of human adiposity: Zooming in on synapses

Keywords: CNV، تغییر شماره نسخه; Obesity; BMI; Fat distribution; Genome-wide association study; GWAS; Functional translationBMI, body-mass index; CM, Cardio-Metabochip; CNS, central nervous system; CNV, copy number variation; DEPICT, Data-driven Expression Prioritized Integration of Comp

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2015 سفارش ترجمه

تجزیه ژنتیکی اثرات روان درمانی کانابینوئید

Genetic dissection of the psychotomimetic effects of cannabinoid exposure

Keywords: CNV، تغییر شماره نسخه; AKT1, V-akt murine thymoma viral oncogene homolog 1; BDNF, Brain-derived neurotrophic factor; CB1R, Cannabinoid receptor 1; COMT, Catechol-o-methyltransferase; CNV, Copy number variation; CPT, Continuous performance test; DA, Dopamine; DAT, Dopamine trans

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2014 سفارش ترجمه

سندرم ریزش خونی 17q21.31: شرح پرونده ای که بیشتر به تشریح سندرم Koolen-de Vries کمک می کند

17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome

Keywords: CNV، تغییر شماره نسخه; Array-CGH, Array-Comparative Genomic Hybridization; CNV, copy number variation; EEG, electroencephalography; VPA, valproate; IQ, intelligence quotient; ADHD, attention-deficit hyperactivity disorder17q21.31 microdeletion; Intellectual disability; Epilepsy

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2016 سفارش ترجمه

ژن‌های مرتبط با چرخه سلولی به عنوان نشانگرهای زیستی برای اسکیزوفرنی

The cell cycle-related genes as biomarkers for schizophrenia

Keywords: CNV، تغییر شماره نسخه; AUC, area under the curve; BPRS, Brief Psychiatric Rating Scale; CDK, cyclin-dependent kinase; CNV, copy number variation; GABA, gamma-aminobutyric acid; GAF, Global Assessment of Functioning; MCM, mini-chromosome maintenance; POLD, polymerase (DNA-direct

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2016 سفارش ترجمه

تشخیص تغییرات نسخه کوچک تعداد (CNV) در اختلال طیف اوتیسم (ASD) توسط آرایه سفارشی مقایسه هیبریداسیون ژنومی (aCGH)

Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)

Keywords: CNV، تغییر شماره نسخه; 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

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2016 سفارش ترجمه

Risk stratification of T-cell Acute Lymphoblastic Leukemia patients based on gene expression, mutations and copy number variation

Keywords: CNV، تغییر شماره نسخه; T-ALL, T-cell acute lymphoblastic leukemia; CNV, copy number variation; ddPCR, droplet digital PCR; OS, overall survival; DFS, disease free survivalGene expression profiling; T-ALL; Droplet digital PCR; Copy number variation; Mutations; TCRγδ + T-ALL

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2016 سفارش ترجمه

Cloning of the promoter of NDE1, a gene implicated in psychiatric and neurodevelopmental disorders through copy number variation

Keywords: CNV، تغییر شماره نسخه; CNV, copy number variation; NDE1, Nuclear Distribution Element 1; NDEL1, NDE-Like 1; UTR, untranslated regionalternate splicing; chromosome 16p13.11 duplication; copy number variation (CNV); Nuclear Distribution Element 1 (NDE1); promoter characterization

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2016 سفارش ترجمه

Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients

Keywords: CNV، تغییر شماره نسخه; ALL, acute lymphoblastic leukaemia; BH, Bengamini and Hochberg; CHAS, Chromosome Analysis Suite; CN, copy number; CNV, copy number variation; COSMIC, Catalogue of Somatic Mutations in Cancer; CRC, colorectal cancer; DGV, Database of genomic variants; DNA,

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2016 سفارش ترجمه

Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients – A study from a tertiary care genetic centre in India

Keywords: CNV، تغییر شماره نسخه; ID, intellectual disability; GDD, global developmental delay; CNV, copy number variation; CMA, chromosomal microarray; MLPA, multiplex ligation-dependent probe amplification; FISH, fluorescence in situ hybridization; qPCR, Quantitative-PCR; ASD, Autism sp

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2016 سفارش ترجمه

CTNND2 deletion and intellectual disability

Keywords: CNV، تغییر شماره نسخه; ID, Intellectual disability; NDD, Neurodevelopmental disorder; CNV, Copy number variation; CMA, Chromosomal microarray analysis; Chr, ChromosomeCTNND2; Deletion; Intellectual; Disability; CNV

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2015 سفارش ترجمه

A novel 47.2 Mb duplication on chromosomal bands Xq21.1–25 associated with mental retardation

Keywords: CNV، تغییر شماره نسخه; CNV, copy number variation; MR, mental retardation; aCGH, array comparative genomic hybridization; Mb, megabase; NMD, nonsense-mediated mRNA decay; OMIM, Online Mendelian Inheritance in Man; RT-PCR, reverse transcription polymerase chain reaction; XLMR, X

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

Abnormal auditory and language pathways in children with 16p11.2 deletion

Keywords: CNV، تغییر شماره نسخه; AD, axial diffusivity; ASD, autism spectrum disorder; CELF, clinical evaluation of language fundamentals; CNV, copy number variation; DTI, diffusion tensor imaging; FA, fractional anisotropy; GFA, generalized fractional anisotropy; HARDI, high angular res

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2015 سفارش ترجمه

Specific TP53 Mutants Overrepresented in Ovarian Cancer Impact CNV, TP53 Activity, Responses to Nutlin-3a, and Cell Survival 1

Keywords: CNV، تغییر شماره نسخه; CASP3, caspase 3; CDKN1A, cyclin dependent protein kinase 1, P21; CNV, copy number variation; DNAJC3, DnaJ homolog subfamily C; GFP, green fluorescent protein; GOF, gain-of-function; HGSC, high-grade serous ovarian cancer; HOX, homeobox genes; LOH, loss o

دانلود رایگان متن کامل مقاله ISI 15 صفحه سال انتشار : 2015 سفارش ترجمه

DNA Copy Number Variations in Patients with Persistent Cloaca

Keywords: CNV، تغییر شماره نسخه; urinary bladder; genitalia; female; cloaca; DNA copy number variations; genomeaCGH, array comparative genomic hybridization; CNV, copy number variation; HHAT, hedgehog acyltransferase; SHH, sonic hedgehog; UPIIIA, uroplakin IIIA

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2014 سفارش ترجمه

Rapid detection of Down's syndrome using quantitative real-time PCR (qPCR) targeting segmental duplications on chromosomes 21 and 11

Keywords: CNV، تغییر شماره نسخه; FISH, fluorescence in situ hybridization; qPCR, quantitative real-time PCR; SNP, single-nucleotide polymorphism; MLPA, multiplex ligation-dependent probe amplification; CNV, copy number variation; QF-PCR, quantitative fluorescent polymerase chain reaction

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

RUNX1 point mutations potentially identify a subset of early immature T-cell acute lymphoblastic leukaemia that may originate from differentiated T-cells

Keywords: CNV، تغییر شماره نسخه; ABD, absence of biallelic deletion; CNV, copy number variation; cCD3, cytoplasmic CD3; ETP-ALL, early T-cell precursor acute lymphoblastic leukaemia; gDNA, genomic DNA; PCR, polymerase chain reaction; RD, Runt domain; sCD3, surface CD3; SNP, single nucleo

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

DNA Copy Number Variations in Patients with 46,XY Disorders of Sex Development

Keywords: CNV، تغییر شماره نسخه; comparative genomic hybridization; disorders of sex development; DNA copy number variationsaCGH, array comparative genomic hybridization; CHD, congenital heart disease; CNV, copy number variation; DSD, disorders of sex development; FISH, follicle-stimulat

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1

Keywords: CNV، تغییر شماره نسخه; ATR, ataxia–telangiectasia and RAD3-related; BMI, Body mass index; CBC, complete blood count; CNV, copy number variation; DDR, DNA-damage response; DSB, Double-strand break; EGF, epidermal growth factor; ID, intellectual disability; Mb, megabase; MIM, Men

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

Keywords: CNV، تغییر شماره نسخه; ACACA, Acetyl-CoA Carboxylase Alpha; ADHD, Attention Deficit Hyperactivity Disorder; ASD, Autism Spectrum Disorders; CNTNAP2, Contactin associated protein-like 2; CNV, Copy Number Variation; DNA, Deoxyribonucleic Acid; FOXP2, Forkhead box P2; HNF1B, Hepat

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

Enhancing production of ergosterol in Pichia pastoris GS115 by over-expression of 3-hydroxy-3-methylglutaryl CoA reductase from Glycyrrhiza uralensis

Keywords: CNV، تغییر شماره نسخه; Glycyrrhiza uralensis Fisch.; 3-Hydroxy-3-methylglutaryl-CoA reductase gene; Over-expression; Pichia pastoris; Copy number variationBMGY, buffered glycerol-complex medium; BMMY, buffered methanol-complex medium; CNV, copy number variation; HMGR, 3-hydroxy

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

Elucidation of Distinctive Genomic DNA Structures in Patients with 46,XX Testicular Disorders of Sex Development Using Genome Wide Analyses

Keywords: CNV، تغییر شماره نسخه; comparative genomic hybridization; disorders of sex development; sex differentiation; testisCGH, comparative genomic hybridization; CN, copy number; CNV, copy number variation; DSD, disorders of sex development; LOH, loss of heterozygosity; PCR, polymeras

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2014 سفارش ترجمه

Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene

Keywords: CNV، تغییر شماره نسخه; OFC, occipitofrontal circumference; BERA, brainstem evoked response audiometry; aCGH, array comparative genomic hybridization; CNV, copy number variation; FISH, fluorescence in situ hybridization; ASD, autism spectrum disorder7q deletion; Comparative geno

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2014 سفارش ترجمه

Adaptive response and tolerance to sugar and salt stress in the food yeast Zygosaccharomyces rouxii

Keywords: CNV، تغییر شماره نسخه; CDRE, calcineurin dependent response element; CNV, copy number variation; CWI, cell wall integrity; DHA, dihydroxyacetone; DHAP, dihydroxyacetone phosphate; HOG, high-osmolarity glycerol; MAPK, mitogen-activated protein kinase; MAPKK, mitogen-activated pr

دانلود رایگان متن کامل مقاله ISI 18 صفحه سال انتشار : 2014 سفارش ترجمه

Phenotypic expansion of the interstitial 16p13.3 duplication: A case report and review of the literature

Keywords: CNV، تغییر شماره نسخه; ASD, atrial septal defect; BAC, bacterial artificial chromosome; CNV, copy number variation; CREBBP, cyclic AMP response element binding protein; DD, developmental delay; DQ, development quotient; dUTP, deoxyuridine triphosphate; F, female; FISH, fluoresc

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features

Keywords: CNV، تغییر شماره نسخه; CMA, chromosomal microarray analysis; CNV, copy number variation; DNA, deoxyribonucleic acid; FISH, fluorescence in situ hybridization; GTG, G-bands after trypsin and Giemsa; ISCN, International System for Human Cytogenetic Nomenclature; IUGR, intrauterin

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

A 1.1 Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: Additional support for a CHD locus at distal 13q34 region

Keywords: CNV، تغییر شماره نسخه; CNV, copy number variation; CHD, congenital heart defects; SNP, single nucleotide polymorphism; CGH-array, comparative genomic hybridization array; PCR, polymerase chain reaction; IQ, Intelligence quotient; OMIM, Online Mendelian Inheritance in Man; Hg19,

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

576 kb deletion in 1p36.33–p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy

Keywords: CNV، تغییر شماره نسخه; CNV, copy number variation; CHD, congenital heart defects; SNP, single nucleotide polymorphism; PCR, polymerase chain reaction; CT, computed tomography; OMIM, Online Mendelian Inheritance in Man; Hg19, human genome 19; ASD, atrial septal defect; DGV, Data

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

A new small supernumerary marker chromosome involving 14pter → q12 in a child with severe neurodevelopmental retardation: Case report and literature review

Keywords: CNV، تغییر شماره نسخه; sSMC, small supernumerary marker chromosome; MRI, magnetic resonance imaging; CNV, copy number variation; FISH, fluorescent in situ hybridization; FOXG1, forkhead box G1; NOVA1, neuro-oncological ventral antigen 1; G2E3, G2/M-phase specific E3 ubiquitin p

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina

Keywords: CNV، تغییر شماره نسخه; CNV, copy number variation; HOX, homeobox; MRKH, Mayer–Rokitansky–Küster–Hauser; MURCS, Müllerian–Renal–Cervicothoracic Somite; PolyPhen, Polymorphism Phenotyping; SIFT, Sorting Intolerant from Tolerant; SNV, single nucleotide variation; SNP, single nucle

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Genome, epigenome and transcriptome analyses of a pair of monozygotic twins discordant for systemic lupus erythematosus

Keywords: CNV، تغییر شماره نسخه; CNV, copy number variation; CS, confidence score; HLA, human leukocyte antigen; PBMC, peripheral blood mononuclear cell; SLE, systemic lupus erythematosus; SNP, single nucleotide polymorphism

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Autistic-like behavioral phenotypes in a mouse model with copy number variation of the CAPS2/CADPS2 gene

Keywords: CNV، تغییر شماره نسخه; CAPS2, Ca2+-dependent activator protein for secretion 2; CNV, copy number variation; DCVs, dense-core vesicles; AUTS1, autism susceptibility locus 1; BDNF, brain-derived neurotrophic factor; USV, ultrasonic vocalizationAutism; Copy number variation; Socia

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Xp22.3 interstitial deletion: A recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation

Keywords: CNV، تغییر شماره نسخه; ADHD, attention deficit-hyperactivity disorder; CGH array, comparative genomic hybridization; CNV, copy number variation; DAPI, 4,6 diamino-2-phenylindole; FISH, fluorescence in situ hybridization; FMR1, fragile X mental retardation 1; HDHD1A, haloacid de

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Copy number variations of obesity relevant loci associated with body mass index in young Chinese

Keywords: CNV، تغییر شماره نسخه; aCGH, Array-Based Comparative Genomic Hybridization; ALT, Alanine Transaminase; AST, Aspartate Transaminase; BHQ, Black Hole Quencher; BMI, Body Mass Index; CI, Confidence Interval; CN, Copy Number; CNV, Copy Number Variation; Cp, Crossing Point; DBP, Dia

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms

Keywords: CNV، تغییر شماره نسخه; MLPA, multiplex ligation-dependent probe amplification; DS, Down syndrome; MDS, Miller–Dieker syndrome; CT, computed tomography; CNV, copy number variation; MR, mental retardation; DD, developmental delay; CMA, chromosomal microarray; ID, intellectual dis

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation

Keywords: CNV، تغییر شماره نسخه; CNV, copy number variation; FISH, fluorescent in situ hybridisation; GaII x, Illumina Genome Analyzer IIx; MLPA, multiplex ligation-dependent probe amplification; OMIM, Online Mendelian Inheritance in Man; NGS, next generation sequencing; Q-PCR, Quantitat

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2013 سفارش ترجمه

Next-generation sequencing reveals genomic features in the Japanese quail

Keywords: CNV، تغییر شماره نسخه; NGS, next-generation sequencing; OECD, the Organization for Economic Cooperation and Development; GA, Genome Analyzer; CNV, copy number variation; DMRT1, double sex and mab-3 related transcription factor 1; SMAD2, SMAD family member 2; SD, standard deviat

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2013 سفارش ترجمه

Structural abnormalities in cortical volume, thickness, and surface area in 22q11.2 microdeletion syndrome: Relationship with psychotic symptoms

Keywords: CNV، تغییر شماره نسخه; 22q11DS, 22q11.2 deletion syndrome; CNV, copy number variation; CT, cortical thickness; SA, surface area; SIPS, Structured Interview for Prodromal Syndromes; MRI, magnetic resonance imaging; ANCOVA, analysis of covarianceCopy number variation; Structural

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2013 سفارش ترجمه

The multifunctional role of filaggrin in allergic skin disease

Keywords: CNV، تغییر شماره نسخه; Filaggrin; atopy; dermatitis; eczema; IL-1β; skin barrier; transepidermal water lossAD, Atopic dermatitis; ADFLG, AD with FLG-null mutations; ADNON-FLG, AD without FLG mutations; CNV, Copy number variation; FLG, Human filaggrin gene; Flg, Murine filaggrin

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2013 سفارش ترجمه

An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays

Keywords: CNV، تغییر شماره نسخه; SNP, single nucleotide polymorphism; MGAM, maltase-glucoamylase; DNA, deoxyribonucleic acid; CNV, copy number variation; GWA, genome-wide association; UPD, uniparental disomy; NIH, National Institutes of Health; UDP, undiagnosed diseases program; NHGRI, N

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2012 سفارش ترجمه

Disruption of Contactin 4 in two subjects with autism in Chinese population

Keywords: CNV، تغییر شماره نسخه; CNTN4, Contactin 4; ASD, autism spectrum disorder; CNV, copy number variation; CDD, childhood disintegrative disorder; PDD-NOS, pervasive developmental disorder-not otherwise specified; CARS, Childhood Autism Rating Scale; FISH, fluorescence in situ hybri

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2012 سفارش ترجمه

Revisit on the evolutionary relationship between alternative splicing and gene duplication

Keywords: CNV، تغییر شماره نسخه; AS, alternative splicing; CNV, copy number variation; GD, gene duplication; EST, expressed sequence tag; fAS, the proportion of genes with more than one alternative splicing isoforms; WGD, whole-genome duplication; SD, segmental duplication; BAI, brain-sp

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2012 سفارش ترجمه

Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH

Keywords: CNV، تغییر شماره نسخه; CGH, Comparative genome hybridization; CNV, Copy number variation; aCGH, Array comparative genome hybridization; ID, Intellectual disability; DD, Developmental delay; PCR, Polymerase chain reaction; PWACR, Prader–Willi/Angelman Critical Region; MSPCR, Met

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2012 سفارش ترجمه

Molecular mining of GGAA tagged transcripts and their expression in water buffalo Bubalus bubalis

Keywords: CNV، تغییر شماره نسخه; BAC, Bacterial artificial chromosome; BLAST, Basic Local Alignment Search Tool; Cb, Calibrator; CDS, Coding sequence; CNV, Copy number variation; Ct, Cycle threshold; FISH, Fluorescence in situ hybridization; HECT, Homologous to the E6-AP (UBE3A) carboxyl

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2012 سفارش ترجمه

1.5 Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development

Keywords: CNV، تغییر شماره نسخه; aCGH, Array comparative genomic hybridization; CNV, Copy Number Variation; CPLX, Complexin-1; CTBP1, C-terminal binding protein 1; DCE, difficult to control epilepsy; DGKQ, Diacylglycerol kinase, theta; EEG, Electroencephalography; FGFRL1, fibroblast grow

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2012 سفارش ترجمه

High resolution array in the clinical approach to chromosomal phenotypes

Keywords: CNV، تغییر شماره نسخه; AGH, array genomic hybridization; CNV, copy number variation; MCA, multiple congenital anomalies; MA, minor anomalies; DD, developmental delay; ID, intellectual disability; ASD, autism spectrum disorders; FISH, fluorescence in situ hybridizationArray geno

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2012 سفارش ترجمه

Comprehensive DNA copy number profile and BAC library construction of an Indian individual

Keywords: CNV، تغییر شماره نسخه; BAC, bacterial artificial chromosome; PFGE, pulse field gel electrophoresis; CNV, copy number variation; arrayCGH, array based comparative genomic hybridization; PCR, polymerase chain reaction; SHANK3, SH3 and multiple ankyrin repeat domains 3; OLFM3, olf

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2012 سفارش ترجمه

Integrative gene network analysis provides novel regulatory relationships, genetic contributions and susceptible targets in autism spectrum disorders

Keywords: CNV، تغییر شماره نسخه; CNV, copy number variation; GWAS, genome wide association study; SNP, single nucleotide polymorphism; CNN, CNV-centric node networkAutism; Genetics; Genomics; CNV; Systems biology

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2012 سفارش ترجمه

Analysis of copy number variants in the cattle genome

Keywords: CNV، تغییر شماره نسخه; Btau4.0, Bos taurus reference genome built version 4.0; BtauUn, Bos taurus reference genome chromosome unknown; CGH, comparative genome hybridization; CNV, copy number variation; CNVR, copy number variation region; kb, kilo base pair; Mb, mega base pair;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه