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

Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.

Clinical chemistry - 6 Dec 2022

Liang Qiaowei, Liu Yingdi, Liu Yaning, Duan Ranhui, Meng Wanli, Zhan Jiahan, Xia Jiahui, Mao Aiping, Liang Desheng, Wu Lingqian

Abstract excerpt

BACKGROUND: Fragile X syndrome (FXS) is the most frequent cause of inherited X-linked intellectual disability. Conventional FXS genetic testing methods mainly focus on FMR1 CGG expansions and fail to identify AGG interruptions, rare intragenic variants, and large gene deletions. METHODS: A long-range PCR and long-read sequencing-based assay termed comprehensive analysis of FXS (CAFXS) was developed and evaluated...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
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

Source

Identifiers

PMID: 36171182
DOI: 10.1093/clinchem/hvac154

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

Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.PMID 36171182Read ↗

Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome.Semantic proximity Read ↗

A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.Semantic proximity Read ↗

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

Enhanced accuracy and sensitivity in detecting FMR1 CGG repeats: a multicenter evaluation of a novel PCR-capillary electrophoresis assay.Semantic proximity Read ↗

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.Semantic proximity Read ↗

[Methylation epigenetic analysis of a pedigree affected with Fragile X syndrome based on Nanopore long-read sequencing].Semantic proximity Read ↗

Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome.Semantic proximity Read ↗

FMR1 and the fragile X syndrome: human genome epidemiology review.Semantic proximity Read ↗

Large-Scale Whole Genome Sequence Analysis of >22,000 Subjects Provides no Evidence of FMR1 Premutation Allele Involvement in Autism Spectrum Disorder.Semantic proximity Read ↗

Long-read sequencing reveals extensive <i>FMR1</i> somatic mosaicism in Fragile-X associated tremor/ataxia syndrome in human brainSemantic 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 ↗

A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients With Neurobehavioral AssessmentsSemantic proximity Read ↗

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