ArticleAmerican journal of human genetics1994
Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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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
18 citing papers in PubMed, 80 citations in OpenAlex.
- Behavioural, psychiatric, and cognitive phenotypes associated with numbers of repeats of the FRAXE allele on the FMR2 gene.Wellcome open research · 2024Article
- Fragile sites, chromosomal lesions, tandem repeats, and disease.Frontiers in genetics · 2022Review
- Unexpected Associations between the Number of FRAXE Repeats in Boys and Evidence of Diabetes in Their Mothers and Maternal Grandmothers.OBM genetics · 2021Article
- Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions.Scientific reports · 2021Article
- Trinucleotide Repeat Expansion Diseases, RNAi, and Cancer.Trends in cancer · 2018Review
- Article
- Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2002Article
- Genetic effects on human cognition: lessons from the study of mental retardation syndromes.Journal of neurology, neurosurgery, and psychiatry · 2002Review
- Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2000Article
- Microdeletions in FMR2 may be a significant cause of premature ovarian failure.Journal of medical genetics · 1999Article
- Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.American journal of human genetics · 1999Article
- Clinical, cytogenetic, and molecular analysis of three families with FRAXE.Journal of medical genetics · 1997Article
- Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males.American journal of human genetics · 1996Article
- Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE.American journal of human genetics · 1996Article
- A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom.American journal of human genetics · 1996Article
- The FRAXE Syndrome: is it time for routine screening?American journal of human genetics · 1996Article
- Simple tandem DNA repeats and human genetic disease.Proceedings of the National Academy of Sciences of the United States of America · 1995Review
- FRAXE and mental retardation.Journal of medical genetics · 1995Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected individuals revealed low academic achievements, with verbal and performance IQs of 61-75 and 70-82, respectively. Cytogenetically the fragile site was always present in affected males and was not always present in affected females. With FISH the fragile site was located within the FRAXE region. The expanded GCC repeat of FRAXE was seen in affected males and females either as a discrete band or as a broad smear. No expansion was seen in unaffected males, whereas three unaffected females did have an enlarged GCC repeat. Maternal transmission of FRAXE may lead to expansion or contraction of the GCC repeat length, whereas in all cases of paternal transmission contraction was seen. In striking contrast to the situation in fragile X syndrome, affected males may have affected daughters. In addition, there appears to be no premutation of the FRAXE GCC repeat, since in the family studied here all males lacking the normal allele were found to be affected.
Indexed as
Identifiers
7977354PMC1918338W1504831361What 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.