(Q34981301)

5 August 2017

1 reference

title

The detection of large deletions or duplications in genomic DNA. (English)

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5 August 2017

Armour JA

1

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5 August 2017

Barton DE

series ordinal

2

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5 August 2017

Cockburn DJ

series ordinal

3

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5 August 2017

Taylor GR

series ordinal

4

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5 August 2017

language of work or name

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1 November 2002

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5 August 2017

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5 August 2017

20

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5 August 2017

325-337

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5 August 2017

5

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Measurement of locus copy number by hybridisation with amplifiable probes

5 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

An optimized probe set for the detection of small interchromosomal aberrations by use of 24-color FISH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

The fidelity of Taq polymerase catalyzing PCR is improved by an N-terminal deletion.

21 January 2018

1 reference

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Absolute mRNA quantification using the polymerase chain reaction (PCR). A novel approach by a PCR aided transcript titration assay (PATTY).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH.

21 January 2018

1 reference

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Detection of carriers for X-linked ichthyosis by Southern blot analysis and identification of one family with a de novo mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Double-differential PCR for gene dosage estimation of erbB oncogenes in benign and cancer tissues and comparison to cellular DNA content.

21 January 2018

1 reference

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Minimum information about a microarray experiment (MIAME)-toward standards for microarray data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Correlation between trans-stilbene oxide-glutathione conjugation activity and the deletion mutation in the glutathione S-transferase class mu gene detected by polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Determination of Gene Dosage by a Quantitative Adaptation of the Polymerase Chain Reaction (gd-PCR): Rapid Detection of Deletions and Duplications of Gene Sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Nested genetic bit analysis (N-GBA) for mutation detection in the p53 tumor suppressor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

The human gene mutation database

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Spectral karyotyping, a 24-colour FISH technique for the identification of chromosomal rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Molecular mechanisms of genetic polymorphisms of drug metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Molecular genetics of human color vision: the genes encoding blue, green, and red pigments

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Polymerase chain reaction based assay to detect allelic loss in human DNA: loss of beta-interferon gene in chronic myelogenous leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Identification of clusters of biallelic polymorphic sequence-tagged sites (pSTSs) that generate highly informative and automatable markers for genetic linkage mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Founding mutations and Alu-mediated recombination in hereditary colon cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Human glutathione S-transferase theta (GSTT1): cDNA cloning and the characterization of a genetic polymorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Capillary electrophoresis for the detection of known point mutations by single-nucleotide primer extension and laser-induced fluorescence detection

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Reliability of preimplantation diagnosis for single gene disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

A comparison of methods for gene dosage analysis in HMSN type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Precise estimation of allele frequencies of single-nucleotide polymorphisms by a quantitative SSCP analysis of pooled DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

HLA-DRB fluorotyping by dark quenching and automated analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Assembly of microarrays for genome-wide measurement of DNA copy number

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Examination of oncogene amplification by genomic DNA microarray in hepatocellular carcinomas: comparison with comparative genomic hybridization analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Mode of action and application of Scorpion primers to mutation detection

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Molecular beacons: probes that fluoresce upon hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

DMD-specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Detection of PCR products using self-probing amplicons and fluorescence

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Selective expression of human X chromosome-linked green opsin genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Quantitative analysis of mitochondrial DNA deletion in paraffin embedded muscle tissues from patients with KSS and CPEO

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Rapid and simultaneous detection of multiple mutations by pooled and multiplex single nucleotide primer extension: application to the study of insulin-responsive glucose transporter and insulin receptor mutations in non-insulindependent diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

A protocol for detection of mitochondrial DNA deletions: characterization of a novel deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

Efficient and specific amplification of identified partial duplications of human mitochondrial DNA by long PCR

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

Long PCR detection of the C4A null allele in B8-C4AQ0-C4B1-DR3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

An evaluation of the use of pooled samples in studies of genetic variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

High-resolution comparative hybridization to combed DNA fibers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

The molecular basis of alpha thalassaemia in a South African population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

Detection of methylthioadenosine phosphorylase (MTAP) and p16 gene deletion in T cell acute lymphoblastic leukemia by real-time quantitative PCR assay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

Analyses of secondary structures in DNA by pyrosequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

Quantitative approach to single-nucleotide polymorphism analysis using MALDI-TOF mass spectrometry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

Detection of telomerase activity utilizing energy transfer primers: comparison with gel- and ELISA-based detection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

DNA fiber-FISH staining mechanism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

MSH2 genomic deletions are a frequent cause of HNPCC

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10133

7 January 2021

Identifiers

DOI

10.1002/HUMU.10133

1 reference

5 August 2017

1 reference