ReviewExpert review of molecular diagnostics2015
Advanced technologies for the molecular diagnosis of fragile X syndrome.
Review in Expert review of molecular diagnostics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Safety and Tolerability of CTH120, First-in-human Phase I Study Encompassing Three Parts: Single and Multiple Ascending Doses and Potential Food Interaction
Assessment of Neural Biomarkers in Adult Subjects With Fragile X Syndrome and Typically Developing Subjects
Evaluation of the Safety, Tolerability, and Effectiveness of CTH120 in Adult Males With Fragile X Syndrome
Who cites it
19 citing papers in PubMed.
- Article
- Personalized Follow Up and Genetic Diagnosis Update ofInternational journal of molecular sciences · 2025Article
- Screening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder.Journal of autism and developmental disorders · 2023Article
- Review
- Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.International journal of molecular sciences · 2023Review
- Identification of microRNAs associated with human fragile X syndrome using next-generation sequencing.Scientific reports · 2022Article
- Raising Knowledge and Awareness of Fragile X Syndrome in Serbia, Georgia, and Colombia: A Model for Other Developing Countries?The Yale journal of biology and medicine · 2021Article
- Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome.Annals of laboratory medicine · 2021Article
- Surveillance and prevalence of fragile X syndrome in Indonesia.Intractable & rare diseases research · 2021Review
- EEG Signal Complexity Is Reduced During Resting-State in Fragile X Syndrome.Frontiers in psychiatry · 2021Article
- Experiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador.Frontiers in psychiatry · 2021Article
- Molecular analysis ofPractical laboratory medicine · 2020Article
- Molecular analysis ofExpert review of molecular diagnostics · 2020Article
- Genetic cluster of fragile X syndrome in a Colombian district.Journal of human genetics · 2018Article
- Diseases and Molecular Diagnostics: A Step Closer to Precision Medicine.Indian journal of clinical biochemistry : IJCB · 2017Article
- Fragile X syndrome and fragile X-associated disorders.F1000Research · 2017Review
- Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in theFrontiers in genetics · 2017Article
- Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.Genes · 2016Review
- Fragile X Syndrome in children.Colombia medica (Cali, Colombia)Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
Fragile X syndrome (FXS), a trinucleotide repeat disorder, is the most common heritable form of cognitive impairment. Since the discovery of the FMR1 gene in 1991, great strides have been made in the field of molecular diagnosis for FXS. Cytogenetic analysis, which was the method of diagnosis in the early 1990, was replaced by Southern blot and PCR analysis albeit with some limitations. In the past few years many PCR-based methodologies, able to amplify large full mutation expanded alleles, with or without methylation, have been proposed. Reviewed here are the advantages, disadvantages and limitations of the most recent developments in the field of FXS diagnosis.
Indexed as
Identifiers
What OpenQuestion holds
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.