ReviewColombia medica (Cali, Colombia)
Fragile X syndrome.
Review in Colombia medica (Cali, Colombia). The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
72 citing papers in PubMed, 1 synthesis or guideline pooled it, 103 citations in OpenAlex.
- Barriers and Facilitators to Participation in Psychosocial Research for Adults With Intellectual Disabilities: A Systematic Review.Journal of applied research in intellectual disabilities : JARID · 2026Pooled it
- FMRP Regulates NrCAM Expression via β-catenin and Modulates PSD95, Dendritic Spines and Autism-like Behaviors.Neuroscience bulletin · 2026Article
- Use of the Behavioral Dyscontrol Scale-2 (BDS-2) to measure executive dysfunction in FXTAS.Frontiers in molecular neuroscience · 2026Article
- Get ready for short tandem repeats analysis using long reads-the challenges and the state of the art.Frontiers in genetics · 2025Review
- Understanding pathophysiology in fragile X syndrome: a comprehensive review.Neurogenetics · 2024Review
- Review
- Activation of the 5-HT1A Receptor by Eltoprazine Restores Mitochondrial and Motor Deficits in aInternational journal of molecular sciences · 2024Article
- Circadian Rhythm and Sleep Analyses in a Fruit Fly Model of Fragile X Syndrome Using a Video-Based Automated Behavioral Research System.International journal of molecular sciences · 2024Article
- Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy.Orphanet journal of rare diseases · 2024Article
- A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa.Genes · 2024Review
- Septotemporal Variation of Information Processing in the Hippocampus of Fmr1 KO Rat.Developmental neuroscience · 2024Article
- Adaptive, behavioral, and cognitive outcomes in individuals with fragile X syndrome with varying autism severity.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2023Article
- Review
- "Corp-Osa-Mente", a Combined Psychosocial-Neuropsychological Intervention for Adolescents and Young Adults with Fragile X Syndrome: An Explorative Study.Brain sciences · 2023Article
- Effects of Positive Fighting Experience and Its Subsequent Deprivation on the Expression Profile of Mouse Hippocampal Genes Associated with Neurogenesis.International journal of molecular sciences · 2023Article
- Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family.Frontiers in genetics · 2023Article
- Review
- Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers.Genes · 2022Article
- The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study.Journal of neurodevelopmental disorders · 2022Article
- Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary Study.Neurology. Genetics · 2022Article
12 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter therefore silencing it and lowering the expression levels of the fragile X mental retardation 1, a protein involved in synaptic plasticity and maturation. Individuals with FXS present with intellectual disability, autism, hyperactivity, long face, large or prominent ears and macroorchidism at puberty and thereafter. Most of the young children with FXS will present with language delay, sensory hyper arousal and anxiety. Girls are less affected than boys, only 25% have intellectual disability. Given the genomic features of the syndrome, there are patients with a number of triplet repeats between 55 and 200, known as premutation carriers. Most carriers have a normal IQ but some have developmental problems. The diagnosis of FXS has evolved from karyotype with special culture medium, to molecular techniques that are more sensitive and specific including PCR and Southern Blot. During the last decade, the advances in the knowledge of FXS, has led to the development of investigations on pharmaceutical management or targeted treatments for FXS. Minocycline and sertraline have shown efficacy in children.
Indexed as
Identifiers
25767309PMC4350386W3023632252What 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.