Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular karyotyping using an SNP array for genomewide genotyping.

Journal of medical genetics - 1 Dec 2004

Rauch A, Rüschendorf F, Huang J, Trautmann U, Becker C, Thiel C, Jones K W, Reis A, Nürnberg P

Abstract excerpt

BACKGROUND: Chromosomal imbalances are a major cause of developmental defects as well as cancer and often constitute the key in identification of novel disease related genes. Classical cytogenetic methods are limited in resolution and dependent on highly skilled labour, while methods with higher resolution, based on molecular cytogenetics approaches such as matrix CGH, are not widely available. METHODS: We have...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosome Aberrations
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Human

Share to Karyotyping

Share to Oligonucleotide Array Sequence Analysis

Share to Reproducibility of Results

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 15591277
DOI: 10.1136/jmg.2004.022855
PMCID: PMC1735639

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular karyotyping using an SNP array for genomewide genotyping.PMID 15591277Read ↗

Molecular karyotyping: from microscope to SNP arrays.Semantic proximity Read ↗

SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.Semantic proximity Read ↗

Whole genome scanning as a cytogenetic tool in hematologic malignanciesSemantic proximity Read ↗

Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics.Semantic proximity Read ↗

High-resolution analysis of chromosomal imbalances using the Affymetrix 10K SNP genotyping chip.Semantic proximity Read ↗

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.Semantic proximity Read ↗

Application of array-based whole genome scanning technologies as a cytogenetic tool in haematological malignancies.Semantic proximity Read ↗

SNP genotyping with the next generation of CGH microarray.Semantic proximity Read ↗

Clinical utility of contemporary molecular cytogenetics.Semantic proximity Read ↗

High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs.Semantic proximity Read ↗

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.Semantic proximity Read ↗

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalitiesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.