Publications

Publications 2017-02-28T09:31:08+00:00

Title Of the Publication

Use of high performance liquid chromatographic fractionation of large RNA molecules in the assay of group I intron ribozyme activity.
Quantification of alternatively spliced RUSH mRNA isoforms by QRT-PCR and IP-RP-HPLC analysis: a new approach to measuring regulated splicing efficiency.
Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4.
A human homolog of yeast pre-mRNA splicing gene PRP31 underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).
Mutations in HPRP3 a third member of pre-mRNA splicing factor genes implicated in autosomal dominant retinitis pigmentosa.
A novel founder mutation in the RNASEL gene 471delAAAG is associated with prostate cancer in Ashkenazi Jews.
Micro-processing events in mRNAs identified by DHPLC analysis.
Effects of cocaine and reserpine administration on RNA editing of rat 5-HT(2C) receptor estimated by primer extension combined with denaturing high-performance liquid chromatography.
Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA.
RNA editing of serotonin 2C receptor in human postmortem brains of major mental disorders.
Ineffective hematopoiesis linked with a mitochondrial tRNA mutation (G3242A) in a patient with myelodysplastic syndrome.
Use of denaturing high-performance liquid chromatography to identify Bacillus anthracis by analysis of the 16S-23S rRNA interspacer region and gyrA gene.
Rapid purification of RNA secondary structures.
Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism.
Mutations of mitochondrial 12S rRNA in gastric carcinoma and their significance.
A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria.
Intron 2 [IVS2 T-C +4] HFE gene mutation associated with S65C causes alternative RNA splicing and is responsible for iron overload.
Introduction of in vitro transcribed ENO1 mRNA into neuroblastoma cells induces massive cell death.
Genome-wide mRNA profiling reveals heterochronic allelic variation and a new imprinted gene in hybrid maize endosperm.
Comparison of three commonly used PCR-based techniques to analyze MSI status in sporadic colorectal cancer.
RNASEL mutation screening and association study in Ashkenazi and non-Ashkenazi prostate cancer patients.
Lack of F8 mRNA: a novel mechanism leading to hemophilia A.
Formation of A2143G mutation of 23S rRNA in progression of clarithromycin resistance in Helicobacter pylori 26695.
Detection of low levels of the mitochondrial tRNA(Leu(UUR)) 3243A>G mutation in blood derived from patients with diabetes.
The 471delAAAG Mutation and C353T Polymorphism in the RNASEL Gene in Sporadic and Inherited Cancer in Israel.
Transcriptional explorations of CAPN3 identify novel splicing mutations a large-sized genomic deletion and evidence for messenger RNA decay.
Suitability of the PAXgene system to stabilize bone marrow RNA in imatinib-resistant patients with chronic myeloid leukemia
Detection and discovery of crustacean parasites in blue crabs (Callinectes sapidus) by using 18S rRNA gene-targeted denaturing high-performance liquid chromatography.
Localization mobility and fidelity of retrotransposed Group II introns in rRNA genes.
Reverse transcription of 16S rRNA to monitor ribosome-synthesizing bacterial populations in the environment.
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations
16S rRNA gene pyrosequencing reveals shift in patient faecal microbiota during high-dose chemotherapy as conditioning regimen for bone marrow transplantation.
RNA analysis by ion-pair reversed-phase high performance liquid chromatoraphy.
Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system.
Results on single cell PCR for Huntington's gene and WAVE product analysis for preimplantation genetic diagnosis.
Rapid mutation detection by the Transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma.
Loss of heterozygosity in primary lung cancer using laser capture microdissection and WAVE DNA fragment analysis techniques.
WAVE3 an actin-polymerization gene is truncated and inactivated as a result of a constitutional t(1;13)(q21;q12) chromosome translocation in a patient with ganglioneuroblastoma.
Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system.
A rapid method of screening for N-acetyltransferase (NAT2) phenotype by use of the WAVE DNA fragment analysis system.
Denaturing High-Performance Liquid Chromatography Using the WAVE DNA Fragment Analysis System.
Mutation analysis of PTPN11 in Noonan syndrome by WAVE.
Interference of Co-amplified nuclear mitochondrial DNA sequences on the determination of human mtDNA heteroplasmy by Using the SURVEYOR nuclease and the WAVE HS system.
A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms.
Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis.
Routine mutation screening of HNF-1alpha and GCK genes in MODY diagnosis: how effective are the techniques of DHPLC and direct sequencing used in combination?
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms.
Using CCM and DHPLC to detect mutations in the glucocorticoid receptor in atherosclerosis: a comparison.
Evaluation of DHPLC analysis in mutational scanning of Notch3 a gene with a high G-C content.
Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage EMC and DHPLC assays.
A comparison of BRCA1 mutation analysis by direct sequencing SSCP and DHPLC.
Identification of specific BRCA1 and BRCA2 variants by DHPLC.
Mutation analysis of p53 in ovarian tumors by DHPLC.
DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2.
Cheap accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools.
Low level mosaicism detectable by DHPLC but not by current sequencing.
DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations.
Determination of loss of heterozygosity in frozen and paraffin embedded tumors by denaturing high-performance liquid chromatography (DHPLC).
Fluorescence-based DHPLC for allelic quantification by single-nucleotide primer extension.
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).
Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations.
Signature-based analysis of MET proto-oncogene mutations using DHPLC.
DHPLC analysis of the MECP2 gene in Italian Rett patients.
Evaluation of DHPLC in the analysis of hemophilia A.
Screening strategies for a highly polymorphic gene: DHPLC analysis of the Fanconi anemia group A gene.
Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive semi-automated method for identifying mutations in the TSC1 gene.
Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
A rapid and simple method for sex identification by heteroduplex analysis using denaturing high-performance liquid chromatography (DHPLC).
High-accuracy DNA sequence variation screening by DHPLC.
High-throughput SNP detection by using DNA pooling and denaturing high performance liquid chromatography (DHPLC).
Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.
Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.
Denaturing high pressure liquid chromatography (DHPLC) for the analysis of somatic p53 mutations.
Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene.
Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.
Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles.
DHPLC screening of cystic fibrosis gene mutations.
Analysis of variation in the human beta-globin gene cluster using a novel DHPLC technique.
A complete mutation screen of the ADPKD genes by DHPLC.
Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2.
Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).
Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness.
Mutation detection of immunoglobulin V-regions by DHPLC.
Identification of seven novel mutations in F8C by DHPLC.
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
Examination of single and multiple mutations involved in resistance to quinolones in Staphylococcus aureus by a combination of PCR and denaturing high-performance liquid chromatography (DHPLC).
DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.
Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy.
Site-Directed Mutagenesis of Exon 5 of p53: Purification Analysis and Validation of Amplicons for DHPLC.
Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes.
NF1 gene analysis based on DHPLC.
High-throughput genotyping by DHPLC of the dihydropyrimidine dehydrogenase gene implicated in (fluoro)pyrimidine catabolism.
DHPLC mutation analysis of phenylketonuria.
Use of DHPLC for rapid screening of recombinant clones.
Determination of Melting Temperature for Variant Detection Using dHPLC: A Comparison Between an Empirical Approach and DNA Melting Prediction Software.
In-depth mutation and SNP discovery using DHPLC gene scanning.
Rapid detection of the deltaF508 mutation in single cells using DHPLC: implications for preimplantation genetic diagnosis.
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.
Evaluation of dHPLC in mutation screening of the APC gene in a Greek FAP cohort.
Myocilin analysis by DHPLC in French POAG patients: Increased prevalence of Q368X mutation.
The use of denaturing high-performance liquid chromatography (DHPLC) for the analysis of genetic variations: impact for diagnostics and pharmacogenetics.
Cyclin D1 polymorphism and the susceptibility to NPC using DHPLC.
Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families.
Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC.
Rapid prenatal diagnosis of X-linked chronic granulomatous disease using a denaturing high-performance liquid chromatography (DHPLC) system.
Somatic mutation analysis of p53 and ST7 tumor suppressor genes in gastric carcinoma by DHPLC.
Validation of dHPLC for molecular diagnosis of beta-thalassemia in Southern Italy.
Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.
Mutation scanning for the clinical laboratory: DHPLC.
Robust microsatellite instability (MSI) analysis by denaturing high-performance liquid chromatography (DHPLC).
Rapid denaturing high-performance liquid chromatography (DHPLC) for mutation scanning of the transforming growth factor beta3 gene using a novel proof-reading polymerase.
Limb girdle muscular dystrophy: use of dHPLC and direct sequencing to detect sarcoglycan gene mutations in a New Zealand cohort.
Heteroduplex-based genotyping with microchip electrophoresis and dHPLC.
Denaturing high-performance liquid chromatography (DHPLC) as a reliable high-throughput prescreening method for aberrant promoter methylation in cancer.
Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC.
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.
Sequence variations of the alpha-globin genes: Scanning of high CG content genes with DHPLC and DG-DGGE
High sensitivity scanning of colorectal tumors and matched plasma DNA for mutations in APC TP53 K-RAS and BRAF genes with a novel DHPLC fluorescence detection platform.
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.
Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis.
Molecular Analysis of GISTs: Evaluation of Sequencing and dHPLC.
ProtocadherinX/Y a candidate gene-pair for schizophrenia and schizoaffective disorder: a DHPLC investigation of genomic sequence.
Evaluation of denaturing high-performance liquid chromatography (DHPLC) in the screening of mutations in hemophilia B patients.
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.
DHPLC is superior to SSCP in screening p53 mutations in esophageal cancer tissues.
Identification of a novel mitochondrial mutation in Dupuytren's disease using multiplex DHPLC.
dHPLC Screening of the NSD1 gene Identifies Nine Novel Mutations - Summary of the first 100 Sotos Syndrome Mutations.
Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: A highly efficient and reliable carrier-screening test.
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.
Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR.
Diagnostic DHPLC Quality Assurance (DDQA): A collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories.
DHPLC analysis of the matrix metalloproteinase-1 promoter 1G/2G polymorphism that can be easily used to screen large population.
Use of GC Clamps in DHPLC Mutation Scanning.
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.
Efficient testing of the RET gene by DHPLC analysis for MEN 2 syndrome in a cohort of patients.
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.
Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic Navigator software.
DHPLC in clinical molecular diagnostic services.
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.
DHPLC based fraction collection of TCR-gamma rearrangements in childhood ALL: direct sequencing of products amplified by a single or a multiplex PCR approach.
A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay.
Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis.
Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system.
Denaturing temperature selection may underestimate keratin mutation detection by DHPLC.
FOXE1 gene mutation screening by multiplex PCR/DHPLC in CHARGE syndrome and syndromic and non-syndromic cleft palate.
Molecular analysis of ANT1 TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
Nested multigene MSP/DHPLC method for analyzing promoter hypermethylation status in clinical samples.
Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.
Rapid detection of CAA/CAG repeat polymorphism in the AIB1 gene using DHPLC.
A rapid and accurate DHPLC assay for determination of apolipoprotein E genotypes
A rapid and accurate DHPLC assay for determination of apolipoprotein E genotypes
A rapid and accurate DHPLC assay for determination of apolipoprotein E genotypes
A new TMHA-DHPLC assay for the rapid mutation screening of JAK2 exon 14 in myeloproliferative disorders
Simple detection of large InDeLS by DHPLC: the ACE gene as a model
DHPLC analysis of adenomatous polyposis coli (APC) mutations using ready-to-use APC plates: simple detection of multiple base pair deletion mutations
Rapid genotyping of known mutations and polymorphisms in beta-globin gene based on the DHPLC profile patterns of homoduplexes and heteroduplexes
Study on SNP of melanocyte stimulating hormone receptor gene in several Chinese indigenous sheep breeds using DHPLC
Evaluation of the association between retinal binding protein 4 polymorphisms and type 2 diabetes in Chinese by DHPLC
Rapid and accurate approach for screening of microsatellite unstable tumours using quasimonomorphic mononucleotide repeats and denaturating high performance liquid chromatography (DHPLC)
Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: identification of four novel mutations
Analysis of demethylation-related HPV16 reactivation by DHPLC-primer extension assay
Quantification of methylation of SNCG CpG islands in human tissue samples by the combined COBRA-DHPLC assay
Application of DNA pooling in combination with DHPLC and direct se- quencing in SNPs detection of the finless porpoise (Neophocaena phocaenoides)
Identification of eight new mutations in the GCK gene by DHPLC screening in a Spanish population
Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic disease
Discovery of DNA hypermethylation using a DHPLC screening strategy
Application of the DHPLC method for mutational detection of the CYP21A2 gene in congenital adrenal hyperplasia
Detection of c-KIT and PDGFRA gene mutations in gastrointestinal stromal tumors: comparison of DHPLC and DNA sequencing methods using a single population-based cohort
Application of denaturing high-performance liquid chromatography (DHPLC) for yeasts identification in red smear cheese surfaces
Quantitative denaturing high performance liquid chromatography (Q-dHPLC) detection of APC long DNA in faeces from patients with colorectal cancer
Identification of mutations in the lipoprotein lipase (LPL) and apolipoprotein C-II (APOC2) genes using denaturing high performance liquid chromatography (DHPLC).
Molecular analysis of guanidinoacetate-n-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility
In silico analysis and DHPLC screening strategy identifies novel apoptotic gene targets of aberrant promoter hypermethylation in prostate cancer
The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC)
Molecular profiling of diatom assemblages in tropical lake sediments using taxon-specific PCR and Denaturing High-Performance Liquid Chromatography (PCR-DHPLC)
Comparison of allelic discrimination by dHPLC HRM and TaqMan in the detection of BRAF mutation V600E"
Application of denaturing high-performance liquid chromatography (DHPLC) for the identification of fish: a new way to determine the composition of processed food containing multiple species.
Use of PCR-DHPLC (Polymerase Chain Reaction
DHPLC/SURVEYOR Nuclease: A Sensitive Rapid and Affordable Method to Analyze BRCA1 and BRCA2 Mutations in Breast Cancer Families.
dHPLC efficiency for semi-automated cDNA-AFLP analyses and fragment collection in the apple scab-resistance gene model
Identification of copy number variation of CAPN10 in Thais with type 2 diabetes by multiplex PCR and denaturing high performance liquid chromatography (DHPLC)
DHPLC is a highly sensitive and rapid screening method to detect BRAFV600E mutation in papillary thyroid carcinoma
High-performance liquid chromatography under partially denaturing conditions (dHPLC) is a fast and cost-effective method for screening molecular defects: four novel mutations found in X-linked chronic granulomatous disease
DNA Sequence Fragment Containing C to A Mutation as a Convenient Mutation Standard for DHPLC Analysis
Genotyping of Macrophage Migration Inhibitory Factor (MIF) CATT(5-8) Repeat Polymorphism by Denaturing High-Performance Liquid Chromatography (DHPLC)
The use of COLD-PCR DHPLC and GeneScanning for the highly sensitive detection of c-KIT somatic mutations in canine mast cell tumours"
Combination of multiplex PCR and DHPLC-based strategy for CYP2D6 genotyping scheme in Thais.
Use of denaturing high-performance liquid chromatography (DHPLC) to characterize the bacterial and fungal airway microbiota of cystic fibrosis patients.
Application of DHPLC screening TGFBR-3 gene in Chinese women with idiopathic premature ovarian failure
DHPLC and MS studies of a photoinduced intrastrand cross-link in DNA labeled with 5-bromo-2a(sup)2-deoxyuridine.
DHPLC and MS studies of a photoinduced intrastrand cross-link in DNA labeled with 5-bromo-2'-deoxyuridine.
DNA microsatellite analysis using ion-pair reversed-phase high performance liquid chromatography.
Determination of SNP allele frequencies in pooled DNAs by primer extension genotyping and denaturing high-performance liquid chromatography.
Mutation detection by denaturing DNA chromatography using fluorescently labeled polymerase chain reaction products.
Optimization of cloning efficacy by pre-cloning DNA fragment analysis.
Micropellicular stationary phases for high-performance liquid chromatography of double-stranded DNA.
High-resolution liquid chromatography of DNA fragments on non-porous poly(styrene-divinylbenzene) particles
Application of high performance liquid chromatography-based analysis of DNA fragments to molecular carcinogenesis.
A novel technique for rapid automated genotyping of DNA polymorphisms in the mouse.
Isolation and analysis of amplified cDNA fragments during detection of unknown polymorphisms with temperature modulated heteroduplex chromatography.
Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers.
Random mutagenesis-PCR to introduce alterations into defined DNA sequences for validation of SNP and mutation detection methods.
Comparative study of capillary zone electrophoresis and high-performance liquid chromatography in the analysis of oligonucleotides and DNA.
High-performance liquid chromatography for routine analysis of hepatitis C virus cDNA/PCR products.
Analysis of sequence alterations in a defined DNA region: comparison of temperature-modulated heteroduplex analysis and denaturing gradient gel electrophoresis.
Cloning of the Arabidopsis RSF1gene by using a mapping strategy based on high-density DNA arrays and denaturing high-performance liquid chromatography.
Recent common ancestry of human Y chromosomes: evidence from DNA sequence data.
Isolation of single-stranded DNA using denaturing DNA chromatography.
DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography.
Collection of genomic DNA from adults in epidemiological studies by buccal cytobrush and mouthwash.
BACH1 a novel helicase-like protein interacts directly with BRCA1 and contributes to its DNA repair function.
Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol.
Rapid screening mitochondrial DNA mutation by using denaturing high-performance liquid chromatography.
Population genetic implications from DNA polymorphism in random human genomic sequences.
Use of fluorescent DNA-intercalating dyes in the analysis of DNA via ion-pair reversed-phase denaturing high-performance liquid chromatography.
Mutation of TDP1 encoding a topoisomerase I-dependent DNA damage repair enzyme in spinocerebellar ataxia with axonal neuropathy.
Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach.
Forensic utility of mitochondrial DNA analysis based on denaturing high-performance liquid chromatography.
Inactivation of DNA repair gene O6-methylguanine-DNA methyltransferase by promoter hypermethylation and its relation to p53 mutations in esophageal squamous cell carcinoma.
Denaturing HPLC analysis of DNA deletions and insertions.
ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity.
Alteration of the ATM gene occurs in gastric cancer cell lines and primary tumors associated with cellular response to DNA damage.
DNA variants in the human RAB3A gene are not associated with autism.
Rapid separation and laser-induced fluorescence detection of mutated DNA by capillary electrophoresis in a self-coating low-viscosity polymer matrix.
Analysis of genomic CFTR DNA.
DNA ploidy and c-Kit mutation in gastrointestinal stromal tumors.
Measurement of DNA biomarkers for the safety of tissue-engineered medical products using artificial skin as a model.
Improving specificity of DNA hybridization-based methods.
Novel amplification of DNA in a hairpin structure: towards a radical elimination of PCR errors from amplified DNA.
Heteroduplex detection with a plant DNA endonuclease for standard gel electrophoresis.
Separating human DNA mixtures using denaturing high-performance liquid chromatography.
Mitochondrial DNA analysis in clinical laboratory diagnostics.
Surveyor (tm) Nuclease: A new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.
DNA mismatch repair pathway defects in the pathogenesis and evolution of myeloma.
Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations.
DNA sequence variations in the prolyl isomerase Pin1 gene and Alzheimer's disease.
A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction.
Canine DNA Subjected to Whole Genome Amplification is Suitable for a Wide Range of Molecular Applications.
A method for clone sequence confirmation using a mismatch-specific DNA endonuclease.
Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism.
Detection and characterization of DNA variants in the promoter regions of hundreds of human disease candidate genes.
SIRPH analysis: SNuPE with IP-RP-HPLC for quantitative measurements of DNA methylation at specific CpG sites.
Functional characterization of a novel variant of estrogen receptor beta identified in screening of DNA derived from African Americans.
High-precision DNA microsatellite genotyping in Duchenne muscular dystrophy families using ion-pair reversed-phase high performance liquid chromatography.
POLG1 C10ORF2 and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Whole genome amplification of plasma-circulating DNA enables expanded screening for allelic imbalance in plasma.
Frequent mutation related with overexpression of DNA polymerase beta in primary tumors and precancerous lesions of human stomach.
Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.
TP53 and KRAS2 mutations in plasma DNA of healthy subjects and subsequent cancer occurrence: a prospective study.
Mitochondrial DNA deletions and the aging heart.
Identification of gene polymorphisms of human DNA topoisomerase I in the National Cancer Institute panel of human tumour cell lines.
Emergence of Ofloxacin Resistance in Mycobacterium tuberculosis Clinical Isolates from China: gyrA Mutation Analysis by Denaturing HPLC and DNA Sequencing.
Analysis of microsatellite instability in stool DNA of patients with colorectal cancer using denaturing high performance liquid chromatography.
Promoter hypermethylation of the DNA-repair gene O6-methylguanine-DNA methyltransferase and p53 mutation in diffuse large B-cell lymphoma.
Mitochondrial DNA mutations in differentiated thyroid cancer with respect to the age factor.
Mitochondrial DNA D-loop in pancreatic cancer: somatic mutations are epiphenomena while the germline 16519 T variant worsens metabolism and outcome.
mtDNA point mutations are present at various levels of heteroplasmy in human oocytes.
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
mtDNA control region and D-HPLC analysis: a method to evaluate the mating system in Syngnathidae (Teleostei)
Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations
DNA mismatch repair gene hMLH3 variants in meiotic arrest
Patterns of concerted evolution of the rDNA family in a natural population of zhikong scallop Chlamys farreri"
Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation
Implementation of a Congenital Hypothyroidism Newborn Screening Procedure with Mutation Detection on Genomic DNA Extracted from Blood Spots: The Experience of the Italian Northeastern Reference Center
The mitochondrial DNA control region shows genetically correlated levels of heteroplasmy in leukocytes of centenarians and their offspring.
Detection of streptomycin resistance in Mycobacterium tuberculosis clinical isolates from China as determined by denaturing HPLC analysis and DNA sequencing
Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers
Ser-249 TP53 and CTNNB1 mutations in circulating free DNA of Egyptian patients with hepatocellular carcinoma versus chronic liver diseases
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy
Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy
Study on the mitochondrial DNA variation in patients with type 2 diabetes mellitus
Epidermal Growth Factor Receptor Mutations in Plasma DNA Samples Predict Tumor Response in Chinese Patients With Stages IIIB to IV Non-Small-Cell Lung Cancer
Association between genetic polymorphisms of DNA base excision repair genes and evolution of precancerous gastric lesions in a Chinese population
Identification of G6PD mutations in Guangxi by combination of denaturing high performance liquid chromatography DNA sequencing and restriction endonuclease analysis"
Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques
First evidence of d-HPLC efficiency for an automated cDNA-AFLP in the apple scab resistance model
Correlation of chromosomes 1p and 19q status and expressions of O6-methylguanine DNA methyltransferase (MGMT) p53 and Ki-67 in diffuse gliomas of World Health Organization (WHO) grades II and III: a clinicopathological study"
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography
Detection of genomic DNA methylation with denaturing high performance liquid chromatography
Analysis of 16S rDNA sequences from pathogenic Leptospira serovars and use of single nucleotide polymorphisms for rapid speciation by D-HPLC
Advantages and considerations in the confirmation of mitochondrial DNA mutations by denaturing HPLC and pyrosequencing
Surveyor nuclease detection of mutations and polymorphisms of mtDNA in children
Parkinson's disease brain mitochondria have impaired respirasome assembly age-related increases in distribution of oxidative damage to mtDNA and no differences in heteroplasmic mtDNA mutation abundance"
Mitochondrial DNA damage and repair in RPE associated with aging and age-related macular degeneratio
Association of mtDNA D-Loop Polymorphisms with Risk of Gastric Cancer in Chinese Population
Clinical significance of large-scale screening of A1555G mutation of mitochondria DNA for neonates
A DNA pooling-based case-control study of myopia candidate genes COL11A1 COL18A1 FBN1 and PLOD1 in a Chinese population
DNA diagnosis in the age of individual made-to-order medications
Enzymatic on-chip enhancement for high resolution genotyping DNA microarrays
DNA Methylation status of Wnt antagonist SFRP5 can predict the response to the EGFR-tyrosine kinase inhibitor therapy in non-small cell lung cancer
DNA alterations of microsatellite DNA p53 APC and K-ras in Chinese colorectal cancer patients"
A novel heteroplasmic mitochondrial DNA mutation A8890G in a patient with juvenileƒ??onset metabolic syndrome: a case report.
COLD-PCR enriches low-level variant DNA sequences and increases the sensitivity of genetic testing
Enrichment of mutations in multiple DNA sequences using COLD-PCR in emulsion
COLD-PCR amplification of bisulfite-converted DNA allows the enrichment and sequencing of rare un-methylated genomic regions
Fetal DNA in maternal plasma: a noninvasive tool for prenatal diagnosis of beta-thalassemia
Multiplex amplification coupled with COLD-PCR and high resolution melting enables identification of low-abundance mutations in cancer samples with low DNA content
Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing
Ice-COLD-PCR enables rapid amplification and robust enrichment for low-abundance unknown DNA mutations
Application of denaturing high performance liquid chromatography for the detection of maternal DNA contamination during prenatal diagnosis
Two splice-factor mutant leukemia subgroups uncovered at the boundaries of MDS and AML using combined gene expression and DNA-methylation profiling.
Differential strand separation at critical temperature: A minimally disruptive enrichment method for low-abundance unknown DNA mutations
Analysis of variation in chloroplast DNA sequences
Large-Scale Characterization of DNA Methylation Changes in Human Gastric Carcinomas with and without Metastasis.
Quantification and dynamic monitoring of EGFR T790M in plasma cell-free DNA by digital PCR for prognosis of EGFR-TKI treatment in advanced NSCLC.
DNA-Based Differentiation of the Ecuadorian Cocoa Types CCN-51 and Arriba Based on Sequence Differences in the Chloroplast Genome
Co-amplification at Lower Denaturation-temperature PCR Combined with Unlabled-probe High-resolution Melting to Detect KRAS Codon 12 and 13 Mutations in Plasma-circulating DNA of Pancreatic Adenocarcinoma Cases
Circulating tumor DNA is effective for the detection of EGFR mutation in non-small cell lung cancer: a meta-analysis.
Deficient DNA mismatch repair is associated with favorable prognosis in Thai patients with sporadic colorectal cancer.
HPLC photofingerprinting of conformational peculiarities and transitions in oligonucleotide duplexes.
High-resolution liquid chromatography of oligonucleotides on nonporous alkylated styrene-divinylbenzene copolymers.
MECP2 Mutations or Polymorphisms in Mentally Retarded Boys : Diagnostic Implications.
Towards fast and inexpensive molecular diagnostic: the case of TP53.
Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.
Extragastrointestinal stromal tumors presenting as vulvovaginal/rectovaginal septal masses: a diagnostic pitfall.
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis.
Molecular diagnostics of catecholaminergic polymorphic ventricular tachycardia using denaturing high-performance liquid chromatography and sequencing.
Evaluation of high-resolution melting analysis as a diagnostic tool to detect the BRAF V600E mutation in colorectal tumors
Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review
Diagnostic techniques and therapeutic challenges in patients with TP53 dysfunctional chronic lymphocytic leukemia
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
Rhabdomyosarcomatous differentiation in gastrointestinal stromal tumors after imatinib resistance: a potential diagnostic pitfall
COLD-PCR: improving the sensitivity of molecular diagnostics assays
COLD-PCR enhanced melting curve analysis improves diagnostic accuracy for KRAS mutations in colorectal carcinoma
DNA 2000: International Symposium on the state-of-the-art in genetics analysis June 1-3 2000 Boston USA.
Distinct polymicrobial populations in a chronic foot ulcer with implications for diagnostics and anti-infective therapy.