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

The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita

20 Mar 2016

Abstract excerpt

BACKGROUND: Telomere length <1st percentile-for-age in leukocyte subsets by flow cytometry with fluorescence in situ hybridization (flow FISH) is highly sensitive and specific in diagnosing patients with dyskeratosis congenita (DC), a telomere biology disorder. METHODS: We evaluated the clinical utility of the high-throughput quantitative real-time PCR (qPCR) relative telomere length (RTL) measurement as a...

Read the complete abstract on PubMed

Topics

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

Share to Biomedical Research and Pathophysiology
Share to Genomics and Chromatin Dynamics
Share to Telomeres, Telomerase, and Senescence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 27468421
DOI: 10.1002/mgg3.220

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenitaPMID 27468421Read ↗

Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected RelativesSemantic proximity Read ↗

Telomere length is associated with disease severity and declines with age in dyskeratosis congenitaSemantic proximity Read ↗

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenitaSemantic proximity Read ↗

Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohortSemantic proximity Read ↗

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.Semantic proximity Read ↗

Comparison of flow‐FISH and MM–qPCR telomere length assessment techniques for the screening of telomeropathiesSemantic proximity Read ↗

Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified CriteriaSemantic proximity Read ↗

Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenitaSemantic proximity Read ↗

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.Semantic proximity Read ↗

Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.Semantic proximity Read ↗

The relationship between DNA methylation and telomere length in dyskeratosis congenita.Semantic proximity Read ↗

Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.Semantic proximity Read ↗

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