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

Rapid detection of fetal Mendelian disorders: thalassemia and sickle cell syndromes.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2008

Traeger-Synodinos Joanne, Vrettou Christina, Kanavakis Emmanuel

Abstract excerpt

The inherited disorders of hemoglobin synthesis constitute the most common monogenic diseases worldwide. The clinical severity of beta-thalassemia major and the sickle cell syndromes targets them as priority genetic diseases for prevention programs, which incorporates population screening to identify heterozygotes,with the option of prenatal diagnosis for carrier couples. Rapid genotype characterization is...

Read the complete abstract on PubMed

Topics

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

Share to Amniocentesis
Share to Anemia, Sickle Cell
Share to Globins

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

Share to Predictive Value of Tests

Share to Prenatal Diagnosis

Share to Reproducibility of Results

Share to Syndrome

Share to Thalassemia

Source

Identifiers

PMID: 18425477
DOI: 10.1007/978-1-59745-066-9_10

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rapid detection of fetal Mendelian disorders: thalassemia and sickle cell syndromes.PMID 18425477Read ↗

Accurate and rapid prenatal diagnosis of the most frequent East Mediterranean beta-thalassemia mutations.Semantic proximity Read ↗

Postnatal and non-invasive prenatal detection of β-thalassemia mutations based on Taqman genotyping assays.Semantic proximity Read ↗

Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes.Semantic proximity Read ↗

Prenatal diagnosis of hemoglobin disorders: present and future strategies.Semantic proximity Read ↗

Advances in technologies for screening and diagnosis of hemoglobinopathies.Semantic proximity Read ↗

Detection of paternally inherited fetal point mutations for β-thalassemia in maternal plasma using simple fetal DNA enrichment protocol with or without whole genome amplification: an accuracy assessment.Semantic proximity Read ↗

Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.Semantic proximity Read ↗

Research Progress of Cell-Free Fetal DNA in Non-Invasive Prenatal Diagnosis of ThalassemiaSemantic proximity Read ↗

Prenatal molecular diagnosis of beta-thalassemia: report on the first two cases in Romania.Semantic proximity Read ↗

Real-time PCR for prenatal and preimplantation genetic diagnosis of monogenic diseases.Semantic proximity Read ↗

A one-step real-time PCR assay for rapid prenatal diagnosis of sickle cell disease and detection of maternal contamination.Semantic proximity Read ↗

Clinical Perspective on Use of Long-Read Sequencing in Prenatal Diagnosis of ThalassemiaSemantic proximity Read ↗

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