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

Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis.

Orphanet journal of rare diseases - 4 Mar 2022

Vázquez-Mosquera María E, González-Vioque Emiliano, Barbosa-Gouveia Sofía, Bellido-Guerrero Diego, Tejera-Pérez Cristina, Martinez-Olmos Miguel A, Fernández-Pombo Antía, Castaño-González Luis A, Chans-Gerpe Roi, Couce María L

Abstract excerpt

BACKGROUND: Diagnosis of mature-onset diabetes of the young (MODY), a non-autoimmune monogenic form of diabetes mellitus, is confirmed by genetic testing. However, a positive genetic diagnosis is achieved in only around 50% of patients with clinical characteristics of this disease. RESULTS: We evaluated the diagnostic utility of transcriptomic analysis in patients with clinical suspicion of MODY but a negative...

Read the complete abstract on PubMed

Topics

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

Share to Diabetes Mellitus, Type 2
Share to Gene Expression Profiling

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

Share to Genetic Testing

Share to Mutation

Share to Transcriptome

Source

Open in PubMed Open full text

Identifiers

PMID: 35246208
DOI: 10.1186/s13023-022-02263-3
PMCID: PMC8896342

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis.PMID 35246208Read ↗

Transcriptomic Analysis of Patients With Clinical Suspicion of Maturity-onset Diabetes of the Young (MODY) With a Negative Genetic DiagnosisSemantic proximity Read ↗

Undiagnosed MODY: Time for Action.Semantic proximity Read ↗

Update on clinical screening of maturity-onset diabetes of the young (MODY)Semantic proximity Read ↗

Genetic Variants and Therapeutic Approaches in Maturity-Onset Diabetes of the Young: A Retrospective AnalysisSemantic proximity Read ↗

Precision Diagnosis of Maturity-Onset Diabetes of the Young with Next-Generation Sequencing: Findings from the MODY-IST Study in Adult Patients.Semantic proximity Read ↗

The Importance of Molecular Genetic Testing for Precision Diagnostics, Management, and Genetic Counseling in MODY Patients.Semantic proximity Read ↗

Low genetic confirmation rate in South Indian subjects with a clinical diagnosis of maturity-onset diabetes of the young (MODY) who underwent targeted next-generation sequencing for 13 genes.Semantic proximity Read ↗

MODY is prevalent in later-onset diabetes, has potential for targeted therapy but is challenging to identifySemantic proximity Read ↗

Monogenic diabetes in adults: what are the new developments?Semantic proximity Read ↗

Maturity Onset Diabetes of the Young (MODY) is not always monogenic: candidate genes involved in a Latino PopulationSemantic proximity Read ↗

Genetic Confirmation Rate in Clinically Suspected Maturity-Onset Diabetes of the Young.Semantic proximity Read ↗

Maturity-onset diabetes of the young: update and perspectives on diagnosis and treatmentSemantic proximity Read ↗

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