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

Gene ontology analysis of arthrogryposis (multiple congenital contractures)

1 Aug 2019

Abstract excerpt

In 2016, we published an article applying Gene Ontology Analysis to the genes that had been reported to be associated with arthrogryposis (multiple congenital contractures) (Hall & Kiefer, 2016). At that time, 320 genes had been reported to have mutations associated with arthrogryposis. All were associated with decreased fetal movement. These 320 genes were analyzed by biological process and cellular component...

Read the complete abstract on PubMed

Topics

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

Share to Genomics and Rare Diseases
Share to Neurogenetic and Muscular Disorders Research
Share to RNA modifications and cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31369690
DOI: 10.1002/ajmg.c.31733

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gene ontology analysis of arthrogryposis (multiple congenital contractures)PMID 31369690Read ↗

Arthrogryposis as a Syndrome: Gene Ontology AnalysisSemantic proximity Read ↗

Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.Semantic proximity Read ↗

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principlesSemantic proximity Read ↗

Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita.Semantic proximity Read ↗

Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)—Aetiology, diagnosis, and managementSemantic proximity Read ↗

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.Semantic proximity Read ↗

Heterogenic Genetic Background of Distal Arthrogryposis—Review of the Literature and Case ReportSemantic proximity Read ↗

Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene.Semantic proximity Read ↗

Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype.Semantic proximity Read ↗

Common data elements for arthrogryposis multiplex congenita: An international framework.Semantic proximity Read ↗

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature reviewSemantic proximity Read ↗

Relating the chondrocyte gene network to growth plate morphology: from genes to phenotype.Semantic proximity Read ↗

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