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

Diagnostic genetic testing indications and findings in type II, IX and XI collagenopathies.

Journal of medical genetics - 25 May 2026

Britten-Jones Alexis Ceecee, Dawkins Rosie C H, Bucknor Brianna, Ting Yi-Lee, Ayton Lauren N

Abstract excerpt

BACKGROUND: Type II, IX and XI collagenopathies encompass Stickler syndrome and a spectrum of related connective tissue disorders with diverse and overlapping phenotypes. This study evaluated outcomes of commercial gene panels to understand how genetic testing was used in these collagenopathies. METHODS: A retrospective review was undertaken of genetic tests including genes COL2A1, COL11A1, COL11A2, COL9A1,...

Read the complete abstract on PubMed

Topics

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

Share to Arthritis
Share to Collagen Type II
Share to Collagen Type IX

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type XI

Share to Connective Tissue Diseases

Share to Hearing Loss, Sensorineural

Share to Neuromuscular Diseases

Share to Retinal Detachment

Source

Identifiers

PMID: 41856555
DOI: 10.1136/jmg-2025-111366

Genes

COL11A1
COL11A2
COL2A1
COL9A1
COL9A2
COL9A3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diagnostic genetic testing indications and findings in type II, IX and XI collagenopathies.PMID 41856555Read ↗

Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.Semantic proximity Read ↗

Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional studySemantic proximity Read ↗

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.Semantic proximity Read ↗

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.Semantic proximity Read ↗

The collagenopathies: review of clinical phenotypes and molecular correlations.Semantic proximity Read ↗

Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation FrameworkSemantic proximity Read ↗

Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disordersSemantic proximity Read ↗

Decoding Genetic Disease Through the Skin: Lessons From the UDN.Semantic proximity Read ↗

Stickler syndrome: clinical characteristics and diagnostic criteria.Semantic proximity Read ↗

Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.Semantic proximity Read ↗

Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.Semantic proximity Read ↗

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.Semantic proximity Read ↗

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