Keywords: تشخیص جهش; Retinoblastoma; metastasis; mutation detection; inverse PCR; differential diagnosis; second primary tumor
مقالات ISI تشخیص جهش (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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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: تشخیص جهش; Cancer; Circulating cell-free DNA; Liquid biopsy; Conducting polymer; Lung cancer; Mutation detection
Keywords: تشخیص جهش; genotyping; mutation detection; marker-assisted selection; barcoding; fingerprinting
Keywords: تشخیص جهش; Invasive reaction; Nicking endonuclease; AuNPs; Colorimetric detection; Ligation reaction; Mutation detection;
Keywords: تشخیص جهش; Biodefense; Chemiluminescence; Colorimetry; Electrochemistry; Fluorescence; Fluorometry; Genetic disease; Hybridization chain reaction; Mutation detection; Nucleic acid
Keywords: تشخیص جهش; Gene chip; Hereditary deafness; Carrier rate; Mutation detection
High resolution melting (HRM)-based STMS marker analysis for rapid identification of radiation induced mutants of sugarcane
Keywords: تشخیص جهش; High resolution melting; Induced mutants; Sequence tagged microsatellite marker; Melting curve; Mutation detection; HRM; High-resolution melting; RFLP; Restriction fragment length polymorphism DNA; AFLP; Amplified Fragment Length Polymorphism; RAPD; Rando
PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis
Keywords: تشخیص جهش; Autosomal dominant polycystic kidney disease (ADPKD); PKD2; end-stage renal disease (ESRD); prognosis; mutation spectrum; sequencing; genetics; disease progression; disease severity; genetic prevalence; mutation detection; renal survival; kidney function;
Performance characteristics of the AmpliSeq Cancer Hotspot panel v2 in combination with the Ion Torrent Next Generation Sequencing Personal Genome Machine
Keywords: تشخیص جهش; Next generation sequencing; Cancer Hotspot panel; Ion Torrent Personal Genome Machine; Mutation detection; Systematic error analysis; Performance analysis;
Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations
Keywords: تشخیص جهش; Familial hypercholesterolaemia; Biochip array; Mutation detection; Genetic diagnosis;
Emergence of a STAT3 mutated NK clone in LGL leukemia
Keywords: تشخیص جهش; Clonal evolution; T cell receptor; Classifications; Mutation detection; Leukemia markers
A peptide nucleic acid (PNA)-mediated polymerase chain reaction clamping allows the selective inhibition of the ERVWE1 gene amplification
Keywords: تشخیص جهش; Peptide nucleic acids (PNAs); Endogenous retroviruses; ERVWE1; Human; Syncytin-1 glycoprotein; Mutation detection
Prenatal diagnosis for CF using High Resolution Melting Analysis and simultaneous haplotype analysis through QF-PCR ★
Keywords: تشخیص جهش; Cystic fibrosis; High Resolution Melting; Prenatal diagnosis; Mutation detection; Haplotype analysis; QF-PCR
Validation of a mobile phone-assisted microarray decoding platform for signal-enhanced mutation detection
Keywords: تشخیص جهش; Magnetic beads; Microarray; Mobile phone; Mutation detection
Illuminator, a desktop program for mutation detection using short-read clonal sequencing
Keywords: تشخیص جهش; Mutation detection; Sequence analysis; Clonal sequencing; Software
Comparison of methodologies for KRAS mutation detection in metastatic colorectal cancer
Keywords: تشخیص جهش; KRAS; metastatic colorectal cancer; mutation detection
Investigation on lactation persistency and IGF-I gene polymorphisms in dairy sheep
Keywords: تشخیص جهش; Lactation persistency; IGF-I gene; Mutation detection; Dairy sheep
Identification of high risk DISC1 protein structural variants in patients with bipolar spectrum disorder
Keywords: تشخیص جهش; Bipolar spectrum disorder; Disrupted in schizophrenia 1 (DISC1) gene; Mutation detection; Case–control study
Using genetics and genomics strategies to personalize therapy for cancer: Focus on melanoma
Keywords: تشخیص جهش; Personalized medicine; Melanoma; Targeted therapy; Mutation detection; Somatic genetics
Molecular Testing in Epidermolysis Bullosa
Keywords: تشخیص جهش; Mutation detection; Mismatch screening; DNA sequencing; Epidermolysis bullosa;
Comparative reactivity of mismatched and unpaired bases in relation to their type and surroundings. Chemical cleavage of DNA mismatches in mutation detection analysis
Keywords: تشخیص جهش; Mismatch analysis; Mutation detection; Chemical cleavage; DNA structure; Heteroduplexes
Is the role of circulating DNA as a biomarker of cancer being prematurely overrated?
Keywords: تشخیص جهش; Circulating DNA; Plasma DNA; Mutation detection; DNA methylation; DNA sequencing; Biomarker; Cancer detection
Detection of genetic alterations in hereditary colorectal cancer screening
Keywords: تشخیص جهش; APC gene; Familial Adenomatous Polyposis; Lynch syndrome; MMR genes; MUTYH; Mutation detection; MUTYH associated polyposis
Electronic detection of DNA mutation based on strand exchange reaction
Keywords: تشخیص جهش; DNA; Electrochemical probe; Mutation detection
Analysis of PArkin Co-Regulated Gene in a Taiwanese–Ethnic Chinese cohort with early-onset Parkinson's disease
Keywords: تشخیص جهش; PACRG; Early-onset Parkinson's disease; Genetics; Mutation detection
High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India
Keywords: تشخیص جهش; GJB2; Hearing loss; Kerala population; Mutation detection
Polymerizing immobilization of acrylamide-modified nucleic acids and its application
Keywords: تشخیص جهش; Acrylamide-modified nucleic acids; 3-D microarray; Polymerizing immobilization; Application; Mutation detection
A complete miniaturised genotyping system for the detection of single nucleotide polymorphisms in human DNA samples
Keywords: تشخیص جهش; Single nucleotide polymorphism; Förster resonance energy transfer; Genotyping device; Point of care; Mutation detection
In-depth cDNA Library Sequencing Provides Quantitative Gene Expression Profiling in Cancer Biomarker Discovery
Keywords: تشخیص جهش; cDNA sequencing; sequencing depth; expressed sequence tag; sequence-specific subtraction; biomarker; mutation detection;
Single-tube genotyping using a solid-phase method that combines α-phosphorothioate-mediated primer extension and ExoIII: Proof of concept with the F508del cystic fibrosis diagnosis
Keywords: تشخیص جهش; Mutation detection; SNP; Solid-phase; Genetic diagnosis; CFTR; Cystic fibrosis
Novel COL4A3 Mutations in African American Siblings With Autosomal Recessive Alport Syndrome
Keywords: تشخیص جهش; Alport syndrome; kidney failure; mutation detection; kidney transplant;
A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL)
Keywords: تشخیص جهش; CDKN2A; Melanoma; Mutation detection; Sequencing; Polymorphism; Audit; DHPLC; False negative;
PCR-free mutation detection of BRCA1 on a zip-code microarray using ligase chain reaction
Keywords: تشخیص جهش; Mutation detection; Ligase chain reaction; Zip-code microarray; BRCA mutation
Denaturing High-performance Liquid Chromatography mutation analysis in patients with reduced Protein S levels
Keywords: تشخیص جهش; DHPLC; Mutation detection; Protein S
Bis-pyrene-labeled molecular beacon: A monomer–excimer switching probe for the detection of DNA base alteration
Keywords: تشخیص جهش; Oligonucleotide probe; Pyrene excimer; DNA recognition; Mutation detection
Identification of high risk DISC1 structural variants with a 2% attributable risk for schizophrenia
Keywords: تشخیص جهش; Schizophrenia; Disrupted in schizophrenia 1 (DISC1) gene; Mutation detection; Case-control study
Microarray-based DNA resequencing using 3′ blocked primers
Keywords: تشخیص جهش; DNA sequencing; Resequencing; Mutation detection; Pyrophosphorolysis-activated polymerization; DNA amplification
On-chip ligation of multiplexing probe-pairs for identifying point mutations out of dense SNP loci
Keywords: تشخیص جهش; Multiplexing probe-pair; On-chip ligation; Mutation detection; Dense SNP loci; Rifampin-resistance
Development of a universal chemiluminometric genotyping method for high-throughput detection of 7 LDLR gene mutations in greek population
Keywords: تشخیص جهش; Chemiluminometric genotyping; Mutation detection; Familial hypercholesterolemia; LDLR
Synthesis of cobalt ferrite core/metallic shell nanoparticles for the development of a specific PNA/DNA biosensor
Keywords: تشخیص جهش; Magnetic nanoparticle; Gold shell; Peptide nucleic acid; DNA–PNA hybridization; Mutation detection; Rhodamine 6G
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary
Keywords: تشخیص جهش; Biotinidase deficiency; Biotinidase activity; Mutation detection; Incidence; Newborn screening; Population genetics
A novel mutation in ferroportin implicated in iron overload
Keywords: تشخیص جهش; Iron overload; Ferroportin; Autosomal dominant; Mutation detection; Real-time PCR
Validation of XP-C pathogenic variations in archival material from a live XP patient
Keywords: تشخیص جهش; XP, xeroderma pigmentosum; NER, nucleotide excision repair; NMD, nonsense-mediated decay; qRT-PCR, quantitative reverse transcription polymerase chain reactionNucleotide excision repair; Archival specimen; DNA sequenceing; Mutation detection
A large-scale validation of dosage analysis by robust dosage-polymerase chain reaction
Keywords: تشخیص جهش; Quantitative PCR; Mutation detection; Chromosomal mutation; Deletion; Insertion and duplication;
Inherited CAG·CTG allele length is a major modifier of somatic mutation length variability in Huntington disease
Keywords: تشخیص جهش; Huntington disease; Somatic mosaicism; Genetic instability; Triplet repeat expansion; DNA mutation; Mutation detection;
Toward a fluorescent single-strand conformation polymorphism technique that detects all mutations: F-DOVAM-S
Keywords: تشخیص جهش; Fluorescence; SSCP; Mutation detection; β-Lactamase; Multiplexing; F-DOVAM-S; Clinical diagnosis;
Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria
Keywords: تشخیص جهش; Alport syndrome; benign familial hematuria; COL4A3; COL4A4; COL4A5; mutation detection
Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles
Keywords: تشخیص جهش; Melt profiling; PAH deficiency; PKU; Mutation detection; Genotyping
A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: A case report and review of the genetic variants reported in XPC
Keywords: تشخیص جهش; XP, Xeroderma Pigmentosum; NER, nucleotide excision repair; TC-NER, transcription coupled NER; GGR, global genome repairXeroderma Pigmentosum group C; DNA sequencing; Archival material; Mutation detection
High frequency of neurexin 1β signal peptide structural variants in patients with autism
Keywords: تشخیص جهش; Autism; β-Neurexin genes; NLGN4 gene; Mutation detection