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 screening by quantification of FMRP in dried blood spots by a Luminex immunoassay.

The Journal of molecular diagnostics : JMD - 1 Jul 2013

LaFauci Giuseppe, Adayev Tatyana, Kascsak Richard, Kascsak Regina, Nolin Sarah, Mehta Pankaj, Brown W Ted, Dobkin Carl

Abstract excerpt

Fragile X is the most common inherited cause of intellectual disability and is frequently associated with autism. The syndrome is due to mutations of the FMR1 gene that result in the absence of fragile X mental retardation protein (FMRP). We have developed a rapid, highly sensitive method for quantifying FMRP from dried blood spots and lymphocytes. This assay uses two new antibodies, a bacterially expressed...

Read the complete abstract on PubMed

Topics

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

Share to Dried Blood Spot Testing
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Syndrome

Share to Immunoassay

Share to Infant, Newborn

Share to Lymphocytes

Share to Molecular Diagnostic Techniques

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 23660422
DOI: 10.1016/j.jmoldx.2013.02.006

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Fragile X screening by quantification of FMRP in dried blood spots by a Luminex immunoassay.PMID 23660422Read ↗

Optimization, validation and initial clinical implications of a Luminex-based immunoassay for the quantification of Fragile X Protein from dried blood spots.Semantic proximity Read ↗

Optimization, Validation and Initial Clinical Implications of a Luminex-based Immunoassay for the Quantification of Fragile X Protein from Dried Blood SpotsSemantic proximity Read ↗

Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System.Semantic proximity Read ↗

Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening.Semantic proximity Read ↗

FMRP detection assay for the diagnosis of the fragile X syndrome.Semantic proximity Read ↗

A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.Semantic proximity Read ↗

Fragile X mental retardation protein: past, present and future.Semantic proximity Read ↗

A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.Semantic proximity Read ↗

An ‘’Omic’’ Overview of Fragile X SyndromeSemantic proximity Read ↗

Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population.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 ↗

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.Semantic proximity Read ↗

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