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

Complete Tracheal Ring Deformity. A Translational Genomics Approach to Pathogenesis

19 Jun 2019

Abstract excerpt

Abstract Rationale Complete tracheal ring deformity (CTRD) is a rare congenital abnormality of unknown etiology characterized by circumferentially continuous or nearly continuous cartilaginous tracheal rings, variable degrees of tracheal stenosis and/or shortening, and/or pulmonary arterial sling anomaly. Objectives To test the hypothesis that CTRD is caused by inherited or de novo mutations in genes required for...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Ear and Nasal Anomalies
Share to Tracheal and airway disorders
Share to Tumors and Oncological Cases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31215789
DOI: 10.1164/rccm.201809-1626oc

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Complete Tracheal Ring Deformity. A Translational Genomics Approach to PathogenesisPMID 31215789Read ↗

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.Semantic proximity Read ↗

Developmental basis of trachea-esophageal birth defectsSemantic proximity Read ↗

The essential role of cytoskeleton and ciliary system alterations in the development of congenital pulmonary airway malformationsSemantic proximity Read ↗

Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.Semantic proximity Read ↗

Integrated bulk and single-cell RNA-sequencing reveals SPOCK2 as a novel biomarker gene in the development of congenital pulmonary airway malformationSemantic proximity Read ↗

A Multi-Omics Atlas of Naturally Occurring Myelomeningocele in a Large-Animal Model Reveals Heritable ArchitectureSemantic proximity Read ↗

Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice.Semantic proximity Read ↗

Patient-informed CRISPR Screen Identifies FLNB as a Novel Congenital Heart Disease and Ciliopathy GeneSemantic proximity Read ↗

A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.Semantic proximity Read ↗

Transcriptional profiling sheds light on the fibrotic aspects of idiopathic subglottic tracheal stenosisSemantic proximity Read ↗

Patient-informed CRISPR screen identifies FLNB as a congenital heart disease and ciliopathy gene.Semantic proximity Read ↗

The transmembrane protein TMEM16A is required for normal development of the murine trachea.Semantic proximity Read ↗

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