Automated mutation analysis (Q33688372)

28 July 2017

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title

Automated mutation analysis (English)

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28 July 2017

Ravine D

1

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28 July 2017

publication date

1 June 1999

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Journal of Inherited Metabolic Disease

28 July 2017

published in

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28 July 2017

volume

22

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28 July 2017

issue

4

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28 July 2017

page(s)

503-518

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Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia

28 July 2017

cites work

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12 December 2020

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

1 reference

12 December 2020

A model for high-throughput automated DNA sequencing and analysis core facilities

1 reference

12 December 2020

Critical factors in the performance and cost of two-dimensional gene scanning: RB1 as a model

1 reference

12 December 2020

Trinucleotide repeats associated with human disease

1 reference

12 December 2020

Mutation detection with MutH, MutL, and MutS mismatch repair proteins

1 reference

12 December 2020

Primer extension technique for the detection of single nucleotide in genomic DNA.

1 reference

12 December 2020

Diagnosis of a deletion of steroid sulfatase by polymerase chain reaction and high-performance liquid chromatography

1 reference

12 December 2020

PCR-based screening for cystic fibrosis carrier mutations in an ethnically diverse pregnant population.

1 reference

12 December 2020

DNA sequencing by delayed extraction-matrix-assisted laser desorption/ionization time of flight mass spectrometry

1 reference

12 December 2020

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1 reference

12 December 2020

Whatever happened to PKU?

1 reference

12 December 2020

Analysis of complex genetic systems by ARMS-SSCP: application to HLA genotyping.

1 reference

12 December 2020

Hybridization of synthetic oligodeoxyribonucleotides to ΦX174 DNA: the effect of single base pair mismatch

1 reference

12 December 2020

DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory

1 reference

12 December 2020

Genomics, mutations and the Internet: the naming and use of parts

1 reference

12 December 2020

Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

1 reference

12 December 2020

Cystic fibrosis mutation detection by hybridization to light-generated DNA probe arrays

1 reference

12 December 2020

A Ligase-Mediated Gene Detection Technique

1 reference

12 December 2020

Fibroblast growth factor receptor 3 is a negative regulator of bone growth

1 reference

12 December 2020

Endonuclease VII of phage T4 triggers mismatch correction in vitro

1 reference

12 December 2020

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

12 December 2020

Length-independent separation of DNA restriction fragments in two-dimensional gel electrophoresis

1 reference

12 December 2020

Sequencing exons 5 to 8 of the p53 gene by MALDI-TOF mass spectrometry

1 reference

12 December 2020

Analysing genetic information with DNA arrays

1 reference

12 December 2020

Automated DNA sequencing: ultrasensitive detection of fluorescent bands during electrophoresis

1 reference

12 December 2020

A simple DNA diagnostic method for human genetic disorders

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12 December 2020

Rapid determination of single base mismatch mutations in DNA hybrids by direct electric field control

1 reference

12 December 2020

Simultaneous on-line DNA sequencing on both strands with two fluorescent dyes

1 reference

12 December 2020

Rapid design of denaturing gradient-based two-dimensional electrophoretic gene mutational scanning tests

1 reference

12 December 2020

Gene dosage in capillary electrophoresis: pre-natal diagnosis of Down's syndrome

1 reference

12 December 2020

Bi-directional dideoxy fingerprinting (Bi-ddF): a rapid method for quantitative detection of mutations in genomic regions of 300-600 bp

1 reference

12 December 2020

Molecular genetics and control of iron metabolism in hemochromatosis.

1 reference

12 December 2020

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2 channel gene CACNL1A4

1 reference

12 December 2020

Using oligonucleotide probe arrays to access genetic diversity.

1 reference

12 December 2020

Time-of-flight mass spectrometry of underivatized single-stranded DNA oligomers by matrix-assisted laser desorption

1 reference

12 December 2020

A strategy for rapid and efficient DNA sequencing by mass spectrometry

1 reference

12 December 2020

Ligation-anchored PCR: a simple amplification technique with single-sided specificity

1 reference

12 December 2020

Genetic testing: the problems and the promise

1 reference

12 December 2020

Detection of RET proto-oncogene codon 634 mutations using mass spectrometry

1 reference

12 December 2020

Mutation detection by solid phase primer extension

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12 December 2020

Oligonucleotide micro-arrays for identification of unknown mutations: how far from reality?

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12 December 2020

Matrix-assisted laser desorption/ionization mass spectrometry of immobilized duplex DNA probes

1 reference

12 December 2020

Discrimination among the human beta A, beta S, and beta C-globin genes using allele-specific oligonucleotide hybridization probes

1 reference

12 December 2020

Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays.

1 reference

12 December 2020

In situ visualization of messenger RNA for basic fibroblast growth factor in living cells

1 reference

12 December 2020

Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system

1 reference

12 December 2020

1 reference

12 December 2020

High-throughput DNA analysis by time-of-flight mass spectrometry

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12 December 2020

Accessing genetic information with high-density DNA arrays.

1 reference

12 December 2020

Automated DNA diagnostics using an ELISA-based oligonucleotide ligation assay

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12 December 2020

Multicolor molecular beacons for allele discrimination

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12 December 2020

Molecular diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by oligonucleotide ligation assay

1 reference

12 December 2020

Detection of Numerous Y Chromosome Biallelic Polymorphisms by Denaturing High-Performance Liquid Chromatography

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12 December 2020

Detecting single base substitutions as heteroduplex polymorphisms

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12 December 2020

Rapid method for detection of point mutations using mismatch binding protein (MutS) and an optical biosensor

1 reference

12 December 2020

Direct fluorescence analysis of genetic polymorphisms by hybridization with oligonucleotide arrays on glass supports

1 reference

12 December 2020

DNA diagnosis and identification of carriers of infantile and juvenile neuronal ceroid lipofuscinoses

1 reference

12 December 2020

Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland

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12 December 2020

Simultaneous determination of methylenetetrahydrofolate reductase C677T and factor V G1691A genotypes by mutagenically separated PCR and multiple-injection capillary electrophoresis.

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12 December 2020

Selecting PCR designed mismatch primers to create diagnostic restriction sites

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12 December 2020

Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry

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12 December 2020

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12 December 2020

Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis

1 reference

12 December 2020

Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studies

1 reference

12 December 2020

Evaluation of MutS as a tool for direct measurement of point mutations in genomic DNA.

1 reference

12 December 2020

Fully-automated, nonradioactive solid-phase sequencing of genomic DNA obtained from PCR.

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12 December 2020

Rapid detection of trisomy 21 by homologous gene quantitative PCR (HGQ-PCR)

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12 December 2020

Clinical and molecular aspects of multiple endocrine neoplasia.

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12 December 2020

A fast and robust dual-label nonradioactive oligonucleotide ligation assay for detection of factor V Leiden

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12 December 2020

Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII.

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12 December 2020

An infrared fluorescent dATP for labeling DNA.

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12 December 2020

Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes

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12 December 2020

Detection of specific DNA sequences by fluorescence amplification: a color complementation assay

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12 December 2020

Real-time detection of DNA hybridization and melting on oligonucleotide arrays by using optical wave guides

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12 December 2020

Light-generated oligonucleotide arrays for rapid DNA sequence analysis

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12 December 2020

Sequence from spectrometry: a realistic prospect?

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12 December 2020

Mutagenically separated PCR (MS-PCR): a highly specific one step procedure for easy mutation detection

1 reference

12 December 2020

Enzymatic mutation detection. Phosphate ions increase incision efficiency of endonuclease VII at a variety of damage sites in DNA

1 reference

12 December 2020

Ultrarapid mutation detection by multiplex, solid-phase chemical cleavage

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12 December 2020

Fluorescence-based oligonucleotide ligation assay for analysis of cystic fibrosis transmembrane conductance regulator gene mutations

1 reference

12 December 2020

A fluorescent multiplex ARMS method for rapid mutation analysis

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12 December 2020

The synthesis of oligonucleotides containing an aliphatic amino group at the 5' terminus: synthesis of fluorescent DNA primers for use in DNA sequence analysis

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12 December 2020

Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy

1 reference

12 December 2020

Micropellicular stationary phases for high-performance liquid chromatography of double-stranded DNA

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12 December 2020

DNA analysis and diagnostics on oligonucleotide microchips

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12 December 2020

Potassium permanganate and tetraethylammonium chloride are a safe and effective substitute for osmium tetroxide in solid-phase fluorescent chemical cleavage of mismatch

1 reference

12 December 2020

A closed tube format for amplification and detection of DNA based on energy transfer

1 reference

12 December 2020

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

12 December 2020

High-throughput method for determination of apolipoprotein E genotypes with use of restriction digestion analysis by microplate array diagonal gel electrophoresis

1 reference

12 December 2020

Automated fluorescent analysis procedure for enzymatic mutation detection

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12 December 2020

Microplate-array diagonal-gel electrophoresis (MADGE) and melt-MADGE: tools for molecular-genetic epidemiology

1 reference

12 December 2020

Allelic discrimination by nick-translation PCR with fluorogenic probes

1 reference

12 December 2020

The Efficiency of Light-Directed Synthesis of DNA Arrays on Glass Substrates

1 reference

Crossref

https://api.crossref.org/works/10.1023/A:1005508324048

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/A:1005508324048

1 reference

Dimensions Publication ID

28 July 2017

1030872620

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