Keywords: CNVs; copy number variations; ASD; autism spectrum disorder; aCGH; array comparative genomic hybridization; SCQ; social and communication questionnaire; IQ; intelligence quotient; EEG; electroencephalograph; MRI; magnetic resonance imaging; PEP; prolyl en
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: ADHD; Attention Deficit and Hyperactivity Disorder; ACMG; American College of Medical Genetics; AR; Autosomal Recessive; ASD; Autism Spectrum Disorders; aCGH; array Comparative Genomic Hybridization; BP; BreakPoints; CK1; Casein- Kinase 1; CdLS; Cornelia
Keywords: array comparative genomic hybridization; Merkel cell carcinoma; Merkel cell carcinoma metastasis; multiple Merkel cell carcinoma; aCGH; array comparative genomic hybridization; FFPE; formalin-fixed paraffin-embedded; MCC; Merkel cell carcinoma; MCpV; Merk
Keywords: aCGH; array comparative genomic hybridization; CIMP; CpG island methylator phenotype; CIN; chromosomal instability; CNA; copy number alteration; CRC; colorectal cancer; DFS; disease-free survival; EOCRC; early-onset colorectal cancer; GII; genomic Instabi
Keywords: Prenatal diagnosis; Microarray comparative genomic hybridization; Abnormal ultrasounds; Characterization of chromosomal rearrangements; aCGH; Microarray comparative genomic hybridization; CNV; Copy number variation; CPDPN; Pluridisciplinary centers for pr
Keywords: CNVs; copy-number variants; SNPs; single-nucleotide polymorphisms; MDA; multiple-displacement amplification; MALBAC; multiple-annealing-and-looping-based amplification cycles; GATK; genome analysis toolkit; ADO; allele dropout; WGA; whole-genome amplifica
Keywords: NGS; next-generation sequencing; WGS; whole-genome sequencing; WES; whole-exome sequencing; AD; Autosomal Dominant; AR; Autosomal Recessive; XLR; X-Linked Recessive; OI; osteogenesis imperfecta; OSMED; oto-spondylo-mega-epiphyseal dysplasia; SADDAN; sever
Keywords: aCGH; array-comparative genomic hybridization; AR; androgen receptor; AR-V7; AR splice variant 7 messenger RNA; ASGR1; asialoglycoprotein receptor; BMDC; bone marrow-derived cells; CDH1; Cadherin 1; CDH2; Cadherin 2, type 1, N-cadherin (neuronal); cfDNA
Keywords: aCGH; array-based comparative genome hybridization; AID/APOBEC; activation-induced cytidine deaminase; ACSL4; acyl-CoA synthetase long chain family 4; CBS; cystathionine β-synthase; CGL; cystathionine γ-lyase; CTH; cystathionine; ETC; electron transport
Keywords: aCGH; array comparative genomic hybridization; ADT; androgen deprivation therapy; AR; androgen receptor; AR-V7; androgen receptor splice variant 7; CI; confidence interval; CK; cytokeratin; CT; computed tomography; CTC; circulating tumor cell; EGFR; epide
Keywords: Astroblastoma; aCGH; NGS; GBM; SETD2
Keywords: aCGH; array comparative genomic hybridization; CA; control adrenal; c-ACC; childhood adrenocortical carcinoma; Î5A-diol; androstenediol; Î4A-dione; androstenedione; DHEA; dehydroepiandrosterone; DHEA-S; DHEA-sulfate; DHT; dihydrotestosterone; DMR; diffe
Keywords: ACC; agenesis of the corpus callosum; aCGH; array comparative genomic hybridization; ADHD; Attention deficit hyperactivity disorder; ASD; autism spectrum disorders; BCAA; branched-chain amino acids; BCKD; branched-chain α-ketoacid dehydrogenase complex;
Keywords: Periprosthetic tissue; Hip replacement; Pseudotumor; Mutations; aCGH; Metal-on-metal implant
Keywords: Kidney; Mucinous spindle and tubular cell carcinoma; Chromosomal aberration; aCGH
Keywords: Radiation; Chromosome deletion; aCGH; Sfpi1/PU.1; Myeloid leukemia; Mouse model;
Keywords: Kidney; Chromophobe renal cell carcinoma; Neuroendocrine differentiation; Immunohistochemistry; Chromosomal numerical aberrations; aCGH
Keywords: Preimplantation genetic diagnosis; preimplantation genetic screening; comprehensive chromosome screening; aCGH; SNP microarray; qPCR; embryo selection;
Keywords: Neuroblastoma; Neuroblastoma TICs; aCGH; Whole genome sequencing; Principal component analysis;
Keywords: aCGH; array based comparative genomic hybridization; BCSS; breast cancer specific survival; DFS; disease free survival; EMT; epithelial-mesenchymal transition; EORTC; European Organization for Research and Treatment of Cancer; ER; estrogen receptor; IHC;
Keywords: array-based comparative genomic hybridization; cutaneous clear cell myomelanocytic tumor; initiating mutations; mTOR pathway; perivascular epithelioid cell tumor; aCGH; array-based comparative genomic hybridization; MiTF; micro-ophthalmia-associated trans
Keywords: aCGH; chromosome 8p inverted duplication deletion syndrome; inv dup del(8p); prenatal diagnosis; ultrasound
Keywords: B-ALL; ETV6-RUNX1; aCGH; Cryptic unbalanced translocation; der(6)t(X;6)
Validation of GEMCaP as a DNA Based Biomarker to Predict Prostate Cancer Recurrence after Radical Prostatectomy
Keywords: prostatic neoplasms; neoplasm recurrence; local; prostate specific antigen; genomics; risk assessment; aCGH; array comparative genomic hybridization; BCR; biochemical recurrence; CAPRA-S; Cancer of the Prostate Risk Assessment Post-Surgical; CNA; copy num
Congenital hypoplastic bone marrow failure associated with a de novo partial deletion of the MECOM gene at 3q26.2
Keywords: MDS1-EVI1; aCGH; Congenital microdeletion; Hematopoiesis; Aplastic anemia;
Genomic aberrations involving 12p/ETV6 are highly prevalent in blastic plasmacytoid dendritic cell neoplasms and might represent early clonal events
Keywords: ALL; acute lymphoblastic leukemia; aCGH; array comparative genomic hybridization; BPDCN; blastic plasmacytoid dendritic cell neoplasm; BM; bone marrow; DT; diptheria toxin; ETS; (E-Twenty-Six); FFPE; formalin-fixed paraffin-embedded; HCVAD; hyperfractiona
A novel de novo heterozygous deletion at 13q14.2-q21.1 in two siblings with mild intellectual disability
Keywords: 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
Validation of a high-throughput and robust technique: BACs-on-beads assay (KaryoLite BoBs) for pre-implantation aneuploidy screening
Keywords: BoB; Karyolite; aCGH; PGS; Aneuploidy;
First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth
Keywords: aCGH; array comparative genomic hybridisation; ADO; allele drop out; ALB; alkaline lysis buffer; ED; ectodermal dysplasia; EDA; anhidrotic ectodermal dysplasia; EDAR; EDA receptor; EDARADD; EDAR-associated death domain; FISH; fluorescence in situ hybridiz
Nonâinvasive prenatal screening for chromosomal abnormalities using circulating cell-free fetal DNA in maternal plasma: Current applications, limitations and prospects
Keywords: aCGH; array comparative genomic hybridization; cffDNA; cell-free fetal DNA; CMA; chromosomal microarray analysis; FISH; fluorescence in situ hybridization; hCG; human chorionic gonadotropin; NIPS; non-invasive prenatal screening; NIPT; non-invasive prenat
Rapid prenatal diagnosis of aneuploidy for chromosomes 21, 18, 13, X, and Y using segmental duplication quantitative fluorescent PCR (SD-QF-PCR)
Keywords: FISH; fluorescence in situ hybridization; QF-PCR; quantitative fluorescent PCR; qPCR; real-time quantitative PCR; MLPA; multiplex ligation-dependent probe amplification; HGQ-PCR; homologous gene quantitative PCR; PSQ; paralogous sequence quantification; H
Validation of 34betaE12 immunoexpression in clear cell papillary renal cell carcinoma as a sensitive biomarker
Keywords: Clear cell papillary renal cell carcinoma; CK7 immunoreactivity; 34βE12; CK14 antigen expression; FISH analysis; VHL mutation; chromosome 3p deletion; aCGH; biomarker;
Gigantism: X-linked acrogigantism and GPR101 mutations
Keywords: XLAG; X-linked acrogigantism; GPCR; G protein-coupled receptor; GHRHR; Growth hormone releasing hormone receptor; FoSTeS/MMBIR; Fork stalling and template switching/microhomology-mediated break-induced replication; aCGH; Comparative genomic hybridization
Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization
Keywords: 5-BrdU; 5-bromodeoxyuridine; aCGH; array comparative genomic hybridization; ATRX; alpha thalassemia/mental retardation syndrome X-linked; CNV; copy number variation; CKT; creatinine kinase-phospho-total; CT; computed tomography; FISH; fluorescence in situ
Carcinoma ex-pleomorphic adenoma derived from recurrent pleomorphic adenoma shows important difference by array CGH compared to recurrent pleomorphic adenoma without malignant transformation
Keywords: Carcinoma ex-pleomorphic adenoma; Recurrent pleomorphic adenoma; Somatic copy number alterations; aCGH; Carcinoma ex-adenoma pleomórfico; Adenoma pleomórfico recorrente; Alterações no número de cópias somáticas; aCGH;
A robust aCGH data recovery framework based on half quadratic minimization
Keywords: Cancer; CNV; aCGH; Half quadratic; Correntropy;
Distinct set of chromosomal aberrations in childhood hepatocellular carcinoma is correlated to hepatitis B virus infection
Keywords: HCC; HBV; chromosomal instability; children; adjacent non-neoplastic tissues; aCGH;
Characterization of a novel acquired der(1)del(1)(p13p31)t(1;15)(q42;q15) in a high risk t(12;21)-positive acute lymphoblastic leukemia
Keywords: BAC; bacterial artificial chromosome; BCP-ALL; B-cell precursor acute lymphoblastic leukemia; FISH; fluorescence in situ hybridization; MRD; minimal residual disease; oaCGH; oligo-based array comparative genomic hybridization; High-risk B-ALL; MRD; ETV6-R
The origin and significance of additional aneuploidy events in couples undergoing preimplantation genetic diagnosis for translocations by array comparative genomic hybridization
Keywords: aCGH; Aneuploidies; Meiotic; Mitotic; Reciprocal translocations;
Gene expression profiling and DNA methylation analyses of CTCs
Keywords: Circulating Tumor Cells; CTCs; Molecular assays; Multiplex RT-PCR; Molecular characterization; Quantitative PCR (qPCR); Reverse transcription PCR; RT-qPCR; Methylation specific PCR; Gene expression; aCGH; array-comparative genomic hybridization; BRMS1; Br
A novel acquired cryptic three-way translocation t(2;11;5)(p21.3;q13.5;q23.2) with a submicroscopic deletion at 11p14.3 in an adult with hypereosinophilic syndrome
Keywords: aCGH; array-based comparative genomic hybridization; BAC; Bacterial artificial chromosomes; FISH; Fluorescence in situ hybridization; PHA; Phytohaemagglutinin; UCSC; University of California Santa Cruz; Hypereosinophilia; Three-way translocation; t(2;11;5
Genomic DNA extraction methods using formalin-fixed paraffin-embedded tissue
Keywords: FFPE; Adaptive focused acoustics; DNA extraction; RAPD–PCR; Array comparative genomic hybridization; aCGH
FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male
Keywords: aCGH; azoospermia; der(Y); FISH; intrachromosomal duplication and translocation; pseudoisomonocentric;
A robust Correntropy-based method for analyzing multisample aCGH data
Keywords: Cancer; DNA copy number; aCGH; Correntropy; Half-Quadratic programming;
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin
Keywords: Atopy; skin barrier; atopic dermatitis; desmosome; desmoplakin; atopic sensitization; eosinophilic esophagitis; aCGH; Array comparative genome hybridization; AD; Atopic dermatitis; DSG1; Desmoglein 1 gene; DSP; Desmoplakin gene; PPK; Palmoplantar keratode
Non-coding RNA repertoires in malignant pleural mesothelioma
Keywords: AD; adenocarcinoma; ADARB2; RNA-specific adenosine deaminase, B2; aCGH; array comparative genomic hybridization; BAPE; benign asbestos-related pleural effusion; CCND1; cyclin D1; ceRNA; competing endogenous RNA; CREB; cAMP response element binding protein
WspóÅpraca genetyka klinicznego i biologa molekularnego - wczoraj i dziÅ
Keywords: dysmorfologia; porównawcza hybrydyzacja genomowa do mikromacierzy; aCGH; sekwencjonowanie eksomowe; WES; bazy danych; Dysmorphology; Array comparative genome hybridization; aCGH; Whole exome sequencing; WES; Databases;
Robust BRCA1-like classification of copy number profiles of samples repeated across different datasets and platforms
Keywords: BRCA1; Breast cancer; Classification; Copy number aberration profiles; aCGH; array Comparative Genomic Hybridization; BAC; Bacterial Artificial Chromosome; BAC32K; Bacterial Artificial Chromosome aCGH, 32K platform; BAC3K; Bacterial Artificial Chromosome
Upregulated, 7q21-22 amplicon candidate gene SHFM1 confers oncogenic advantage by suppressing p53 function in gastric cancer
Keywords: GC; Gastric Cancer; CN; Copy Number; GEO; Gene Expression Omnibus; RT-PCR; Reverse Transcription Polymerase Chain Reaction; aCGH; array Comparative Genomic Hybridization; SNP; Single Nucleotide Polymorphism; FLUC; Firefly luciferase; RLUC; Renilla lucifer
A 1.5Â Mb terminal deletion of 12p associated with autism spectrum disorder
Keywords: aCGH; array CGH; ADD; Attention Deficit Disorder; ADHD; Attention Deficit Hyperactivity Disorder; ASD; Autism Spectrum Disorder; B4GALNT3; beta-1,4-N-acetyl-galactosaminyl transferase 3; BAC; bacterial artificial chromosome; CARS; Childhood Autism Rating