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

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.

PLoS genetics - 1 Dec 2005

Lupski James R, Stankiewicz Pawel

Abstract excerpt

Rearrangements of our genome can be responsible for inherited as well as sporadic traits. The analyses of chromosome breakpoints in the proximal short arm of Chromosome 17 (17p) reveal nonallelic homologous recombination (NAHR) as a major mechanism for recurrent rearrangements whereas nonhomologous end-joining (NHEJ) can be responsible for many of the nonrecurrent rearrangements. Genome architectural features...

Read the complete abstract on PubMed

Topics

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

Share to Base Pairing
Share to DNA
Share to Gene Duplication

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Rearrangement

Share to Genetic Diseases, Inborn

Share to Genome, Human

Share to Polymorphism, Genetic

Share to Recombination, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 16444292
DOI: 10.1371/journal.pgen.0010049
PMCID: PMC1352149

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.PMID 16444292Read ↗

Genomic disorders 20 years on-mechanisms for clinical manifestations.Semantic proximity Read ↗

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.Semantic proximity Read ↗

Human Structural Variation: Mechanisms of Chromosome Rearrangements.Semantic proximity Read ↗

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traitsSemantic proximity Read ↗

What have studies of genomic disorders taught us about our genome?Semantic proximity Read ↗

Mechanisms for recurrent and complex human genomic rearrangements.Semantic proximity Read ↗

Genomic rearrangements in inherited disease and cancer.Semantic proximity Read ↗

[Structural variation in the human genome].Semantic proximity Read ↗

A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination.Semantic proximity Read ↗

Genomic rearrangements and sporadic disease.Semantic proximity Read ↗

Mechanisms of formation of structural variation in a fully sequenced human genome.Semantic proximity Read ↗

Structural variants: changing the landscape of chromosomes and design of disease studies.Semantic proximity Read ↗

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