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

Detection of Turner syndrome using high-throughput quantitative genotyping.

The Journal of clinical endocrinology and metabolism - 1 Jun 2005

Meng Haiying, Hager Karl, Rivkees Scott A, Gruen Jeffrey R

Abstract excerpt

CONTEXT: Turner syndrome (TS) is the most common genetic problem affecting women and occurs when an X chromosome is completely deleted, portions of an X chromosome are deleted, or chromosomal mosaicism occurs. Girls with TS may also have occult Y chromosome sequences. Whereas some girls with TS are identified in infancy or early childhood, many girls with TS are not detected until after 10 yr of age, resulting in...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, X
Share to Chromosomes, Human, Y

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Karyotyping

Share to Noonan Syndrome

Share to Turner Syndrome

Source

Identifiers

PMID: 15797949
DOI: 10.1210/jc.2005-0544

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

Detection of Turner syndrome using high-throughput quantitative genotyping.PMID 15797949Read ↗

A highly sensitive, high-throughput assay for the detection of Turner syndrome.Semantic proximity Read ↗

Ending the late diagnosis of Turner syndrome through a novel high-throughput assay.Semantic proximity Read ↗

Turner SyndromeSemantic proximity Read ↗

Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.Semantic proximity Read ↗

Non-Invasive Prenatal Testing by Cell-Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants-Prenatal Findings and Postnatal Outcomes.Semantic proximity Read ↗

Mosaic Turner syndrome shows reduced phenotypic penetrance in an adult population study compared to clinically ascertained casesSemantic proximity Read ↗

Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution.Semantic proximity Read ↗

Mosaic Turner syndrome shows reduced penetrance in an adult population study.Semantic proximity Read ↗

Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome.Semantic proximity Read ↗

Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment.Semantic proximity Read ↗

Advances in laboratory evaluation of Turner syndrome and its variants: beyond cytogenetics studies.Semantic proximity Read ↗

Analysis of genetic variability in Turner syndrome linked to long-term clinical features.Semantic proximity Read ↗

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