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

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders.

Journal of neuromuscular diseases - 1 Jan 2000

Sagath Lydia, Lehtokari Vilma-Lotta, Välipakka Salla, Udd Bjarne, Wallgren-Pettersson Carina, Pelin Katarina, Kiiski Kirsi

Abstract excerpt

BACKGROUND: Our previous array, the Comparative Genomic Hybridisation design (CGH-array) for nemaline myopathy (NM), named the NM-CGH array, revealed pathogenic copy number variation (CNV) in the genes for nebulin (NEB) and tropomyosin 3 (TPM3), as well as recurrent CNVs in the segmental duplication (SD), i.e. triplicate, region of NEB (TRI, exons 82-89, 90-97, 98-105). In the light of this knowledge, we have...

Read the complete abstract on PubMed

Topics

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

Share to Connectin
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microarray Analysis

Share to Muscle Proteins

Share to Myopathies, Nemaline

Share to Neuromuscular Diseases

Share to Oligonucleotide Array Sequence Analysis

Share to Reproducibility of Results

Source

Open in PubMed Open full text

Identifiers

PMID: 30040739
DOI: 10.3233/JND-170298
PMCID: PMC6087456

Genes

NEB
TTN
TPM3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders.PMID 30040739Read ↗

Copy number variants from 4,800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathiesSemantic proximity Read ↗

Targeted array comparative genomic hybridization--a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes.Semantic proximity Read ↗

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.Semantic proximity Read ↗

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGSSemantic proximity Read ↗

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic PatientsSemantic proximity Read ↗

Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disordersSemantic proximity Read ↗

An enhanced method for targeted next generation sequencing copy number variant detection using ExomeDepthSemantic proximity Read ↗

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.Semantic proximity Read ↗

Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders.Semantic proximity Read ↗

Genetic spectrum among Iranian individuals with neuromuscular disorders using Next-Generation Sequencing and multiple ligation-dependent probe amplification methods: An 11-year overviewSemantic proximity Read ↗

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin GenesSemantic proximity Read ↗

Copy number variation in the genome; the human DMD gene as an example.Semantic proximity Read ↗

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