Detection of tandem duplications and implications for linkage analysis.

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

Back to search

Article

Detection of tandem duplications and implications for linkage analysis.

American journal of human genetics - 1 Jun 1994

Matise T C, Chakravarti A, Patel P I, Lupski J R, Nelis E, Timmerman V, Van Broeckhoven C, Weeks D E

Abstract excerpt

The first demonstration of an autosomal dominant human disease caused by segmental trisomy came in 1991 for Charcot-Marie-Tooth disease type 1A (CMT1A). For this disorder, the segmental trisomy is due to a large tandem duplication of 1.5 Mb of DNA located on chromosome 17p11.2-p12. The search for...

Topics

Alleles
Charcot-Marie-Tooth Disease
Chromosome Mapping
Chromosomes, Human, Pair 17
Computer Simulation
Genes, Dominant
Genetic Linkage
Genetic Markers
Genotype
Humans
Likelihood Functions
Models, Genetic
Models, Statistical
Multigene Family
Pedigree
Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 8198134
PMCID: PMC1918201

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8198134-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics