ArticleThe Journal of molecular diagnostics : JMD2005
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene.
Article in The Journal of molecular diagnostics : JMD, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed, 99 citations in OpenAlex.
- Emotion potentiated startle in fragile X syndrome.Journal of autism and developmental disorders · 2014Trial
- Frequency of ZFHX3-Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Navigating triplet repeats sequencing: concepts, methodological challenges and perspective for Huntington's disease.Nucleic acids research · 2025Review
- A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree.BMC medical genomics · 2023Article
- Review
- Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.American journal of medical genetics. Part A · 2023Article
- Characterization ofFrontiers in genetics · 2021Article
- Molecular analysis ofPractical laboratory medicine · 2020Article
- FMR1 mRNA from full mutation alleles is associated with ABC-CScientific reports · 2020Article
- A native function for RAN translation and CGG repeats in regulating fragile X protein synthesis.Nature neuroscience · 2020Article
- Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.Journal of neurodevelopmental disorders · 2019Article
- Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by StabilizingFrontiers in genetics · 2018Article
- Expanded alleles of theBioscience reports · 2017Article
- Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions.Neurogenetics · 2017Article
- Recent advances in assays for the fragile X-related disorders.Human genetics · 2017Review
- Fragile X syndrome: a review of clinical and molecular diagnoses.Italian journal of pediatrics · 2017Review
- Review
- A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome.Molecular biology reports · 2016Article
- Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.Genes · 2016Review
- FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.Genetics research · 2016Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
Several diagnostic strategies have been applied to the detection of FMR1 gene repeat expansions in fragile X syndrome. Here, we report a novel polymerase chain reaction-based strategy using the Expand Long Template PCR System (Roche Diagnostics, Mannheim, Germany) and the osmolyte betaine. Repeat expansions up to approximately 330 CGGs in males and up to at least approximately 160 CGGs in carrier women could be easily visualized on ethidium bromide agarose gels. We also demonstrated that fluorescence analysis of polymerase chain reaction products was a reliable tool to verify the presence of premutation and full mutation alleles both in males and in females. This technique, primarily designed to detect premutation alleles, can be used as a routine first screen for expanded FMR1 alleles.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.