ArticleAmerican journal of human genetics1993
Genotype-phenotype relationships in fragile X syndrome: a family study.
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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Who cites it
27 citing papers in PubMed, 85 citations in OpenAlex.
- A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.American journal of human genetics · 1994Trial
- Mosaic H3K9me3 at BREACHes predicts synaptic gene expression associated with fragile X syndrome cognitive severity.bioRxiv : the preprint server for biology · 2025Article
- Reliability of resting-state electrophysiology in fragile X syndrome.Biomarkers in neuropsychiatry · 2023Article
- Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways.Cerebellum & ataxias · 2021Article
- Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in FemaleFrontiers in psychiatry · 2021Article
- Establishment of Reporter Lines for Detecting Fragile X Mental Retardation (FMR1) Gene Reactivation in Human Neural Cells.Stem cells (Dayton, Ohio) · 2017Article
- Human pluripotent stem cell models of Fragile X syndrome.Molecular and cellular neurosciences · 2016Review
- Fragile X spectrum disorders.Intractable & rare diseases research · 2014Review
- C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.Acta neuropathologica · 2014Article
- Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation.European journal of pediatrics · 2014Article
- iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth.Stem cells and development · 2014Article
- Unstable mutations in the FMR1 gene and the phenotypes.Advances in experimental medicine and biology · 2012Review
- Resolution of spatial and temporal visual attention in infants with fragile X syndrome.Brain : a journal of neurology · 2011Article
- FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.The Journal of molecular diagnostics : JMD · 2011Article
- Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.European journal of human genetics : EJHG · 2011Article
- Using perceptual signatures to define and dissociate condition-specific neural etiology: autism and fragile X syndrome as model conditions.Journal of autism and developmental disorders · 2010Article
- Fragile-X syndrome: genetic aspects and stomatologic evaluations.ORAL & implantology · 2010Article
- Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.Human molecular genetics · 2010Article
- Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.American journal of human genetics · 1999Article
- The fragile X syndrome.Journal of medical genetics · 1998Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Relationships between the measures of intellectual and physical status in the fragile X syndrome and the size of amplification of the fragile X-specific fragment, equivalent to the number of CCG repeats within the FMR1 locus, were studied by a maximum-likelihood scoring technique for analysis of pedigree data. This allows for estimation of random effects (genetic and environmental variance) concurrently with other (fixed) effects in a quantitative trait. FMR1 expression is usually shut down in males penetrant for the fragile X syndrome who have hypermethylated CCG amplifications of > or = 0.6 kb. The assumption of the step versus curvilinear function representing this relationship was tested by the likelihood-ratio criterion. The maximum-likelihood parameters were based on the most appropriate model for each measure. The results were indicative of the presence of a curvilinear relationship between the amplification size and the two intellectual scores, the Peabody Picture Vocabulary Test and Block Design Test, measuring verbal and spatial abilities, respectively. Reasons for the unexpected curvilinear regression between the amplification size and intellectual scores were explained further by methylation analysis of fragile X males with amplifications of 0.6 < delta < or = 1.2 kb who appeared to be responsible for the curvilinearity of the relationship. Four of these showed unmethylated status of the amplified bands in lymphocytes, which were presumably transcriptionally active. Removal of the aberrant individuals led to the anticipated step function between amplification and intellectual scores. For the combined anthropometric score, as well as for several single physical measures, the step function was the most appropriate model regardless of the inclusion or omission of the aberrant individuals in the pedigree sample.
Indexed as
Identifiers
8213832PMC1682311W1534802869What 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.