Inventaire - your friends and communities are your best library

The detection of large deletions or duplications in genomic DNA.

published in: Human Mutation

date of publication: 2002-11-01

language: English

Cites articles 77

Date

Title

Authors

2002-06-01

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
2001-12

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

Ugis Sarkans, Jaak Vilo, Gavin Sherlock, John Quackenbush, Alvis Brazma, Pascal Hingamp, Christian J Stoeckert, Helen C Causton, John C Matese, Helen Parkinson, Ronald Taylor, Martin Vingron, Paul Spellman
2001-02-01

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

Gareth Evans, Jessica Zucman-Rossi, Martin Hergersberg, Tiit Mathiesen, Jan Dumański
2001-02-01

Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning
2001-12-01

Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas.
2001-09-01

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

Paul N Scriven
2001-10-01

Reliability of preimplantation diagnosis for single gene disorders.

Svetlana Rechitsky, Yury Verlinsky, Charles M Strom
2001-02-01

A comparison of methods for gene dosage analysis in HMSN type 1.
2001-02-15

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

Brian Schultz, Zemin Ning, Mark Joseph Daly, David Altshuler, Eric Lander, David Reich, Lincoln Stein, Elaine Mardis, Lucinda Fulton
2001-07-01

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

Jonathan Flint
2001-10-01

HLA-DRB fluorotyping by dark quenching and automated analysis
2001-11-01

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

Bauke Ylstra
2001-10-01

Examination of oncogene amplification by genomic DNA microarray in hepatocellular carcinomas: comparison with comparative genomic hybridization analysis.
2001-01-01

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

Marco Cicardi
2000-01-01

Measurement of locus copy number by hybridisation with amplifiable probes
2000-04-04

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

Michael R. Speicher
2000-04-01

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

Anton K Raap, Carla Rosenberg, Yvonne Hilhorst-Hofstee
2000-06-01

Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays
2000-02-01

High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR.
2000-11-01

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

Bastiaan Hoogendoorn, George Kirov, Jehannine C Austin, Michael C O'Donovan
2000-07-01

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

Ann-Christine Syvänen
2000-09-01

Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer.
2000-03-01

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
2000-11-14

Precise estimation of allele frequencies of single-nucleotide polymorphisms by a quantitative SSCP analysis of pooled DNA.
2000-10-01

Mode of action and application of Scorpion primers to mutation detection
2000-04-01

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

Serge Romana, Valerie Cormier-Daire
2000-10-01

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

Struan F.A. Grant
2000-05-01

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

Alice L Yu
2000-09-01

Quantitative approach to single-nucleotide polymorphism analysis using MALDI-TOF mass spectrometry
2000-06-01

DNA fiber-FISH staining mechanism

Anton K Raap
1999-08-01

Detection of PCR products using self-probing amplicons and fluorescence
1999-05-01

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

Article - wd:Q34981301

Welcome to Inventaire

the library of your friends and communities

learn more