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

Fragile X Syndrome: Scientific Background and Screening Technologies.

The Journal of molecular diagnostics : JMD - 1 Sept 2015

Lyons Justine I, Kerr Gregory R, Mueller Patricia W

Abstract excerpt

Fragile X is the most common inherited cause of mental retardation with a prevalence of 1 in 4000 for males and 1 in 5000 to 8000 for females. The American College of Medical Genetics and Genomics has recommended diagnostic testing for fragile X in symptomatic persons, women with ovarian dysfunction, and persons with tremor/ataxia syndrome. Although medical and scientific professionals do not currently recommend...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Syndrome

Share to Genetic Testing

Share to Mutation

Share to Polymerase Chain Reaction

Share to Sensitivity and Specificity

Share to Trinucleotide Repeats

Source

Open in PubMed Open full text

Identifiers

PMID: 26162330
DOI: 10.1016/j.jmoldx.2015.04.006
PMCID: PMC4620545

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Fragile X Syndrome: Scientific Background and Screening Technologies.PMID 26162330Read ↗

Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.Semantic proximity Read ↗

Clinical aspects of the fragile X syndrome.Semantic proximity Read ↗

Molecular analysis of fragile X syndrome.Semantic proximity Read ↗

Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.Semantic proximity Read ↗

Advances in molecular analysis of fragile X syndrome.Semantic proximity Read ↗

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.Semantic proximity Read ↗

Triplet-Primed PCR Assays for Accurate Screening of FMR1 CGG Repeat Expansion and Genotype Verification.Semantic proximity Read ↗

Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee.Semantic proximity Read ↗

[Fragile X syndrome: a review of diagnosis and treatment].Semantic proximity Read ↗

Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders.Semantic proximity Read ↗

Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Semantic proximity Read ↗

Fragile X syndrome.Semantic proximity Read ↗

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