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

Regional genomic instability predisposes to complex dystrophin gene rearrangements.

Human genetics - 1 Sept 2009

Oshima Junko, Magner Daniel B, Lee Jennifer A, Breman Amy M, Schmitt Eric S, White Lisa D, Crowe Carol A, Merrill Michelle, Jayakar Parul, Rajadhyaksha Aparna, Eng Christine M, del Gaudio Daniela

Abstract excerpt

Mutations in the dystrophin gene (DMD) cause Duchenne and Becker muscular dystrophies and the majority of cases are due to DMD gene rearrangements. Despite the high incidence of these aberrations, little is known about their causative molecular mechanism(s). We examined 792 DMD/BMD clinical samples by oligonucleotide array-CGH and report on the junction sequence analysis of 15 unique deletion cases and three...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Comparative Genomic Hybridization

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

Share to Computational Biology

Share to Dystrophin

Share to Gene Deletion

Share to Gene Rearrangement

Share to Nucleic Acid Hybridization

Share to Oligonucleotide Array Sequence Analysis

Source

Identifiers

PMID: 19449031
DOI: 10.1007/s00439-009-0679-9

Genes

DMD

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

Regional genomic instability predisposes to complex dystrophin gene rearrangements.PMID 19449031Read ↗

Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene.Semantic proximity Read ↗

Identifying inversions with Breakpoints in the Dystrophin Gene through Long-Read Sequencing: Report of Two CasesSemantic proximity Read ↗

The cryptic complex rearrangements involving the DMD gene causing completely opposite manifestations: etiologic clues revealed by optical genome mappingSemantic proximity Read ↗

The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping.Semantic proximity Read ↗

Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.Semantic proximity Read ↗

Analysis of complex structural variants in the DMD gene in one family.Semantic proximity Read ↗

Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene.Semantic proximity Read ↗

Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications.Semantic proximity Read ↗

Long-read sequencing identifies complex structural variants in DMD patients.Semantic proximity Read ↗

Integrated Genotyping Strategies Uncovering Detailed Haplotype Structures and Characterization of DMD duplicationsSemantic proximity Read ↗

Comprehensive analysis of genomic complexity in the 5’ end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencingSemantic proximity Read ↗

Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.Semantic proximity Read ↗

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