ArticleJournal of medical genetics1993
Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.
Article in Journal of medical genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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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.
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Who cites it
20 citing papers in PubMed, 62 citations in OpenAlex.
- An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.Frontiers in genetics · 2024Article
- Transcription Pause and Escape in Neurodevelopmental Disorders.Frontiers in neuroscience · 2022Review
- Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions.Scientific reports · 2021Article
- Alternative DNA StructuresMicrobiology and molecular biology reviews : MMBR · 2021Review
- Autism spectrum disorder: FRAXE mutation, a rare etiology.Journal of autism and developmental disorders · 2015Article
- Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.American journal of human genetics · 1999Article
- A rapid screening and diagnosis on fragile X syndrome by PCR.Journal of Tongji Medical University = Tong ji yi ke da xue xue bao · 1999Article
- Clinical, cytogenetic, and molecular analysis of three families with FRAXE.Journal of medical genetics · 1997Article
- Fragile X syndrome is less common than previously estimated.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
- FRAXF in a patient with chromosome 8 duplication.Journal of medical 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
- FRAXE expansion is not a common etiological factor among developmentally delayed males.American journal of human genetics · 1995Article
- A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci.Journal of medical genetics · 1995Article
- FRAXE and mental retardation.Journal of medical genetics · 1995Article
- Fragile X syndrome.Archives of disease in childhood · 1995Article
- DNA testing for fragile X syndrome in schools for learning difficulties.Archives of disease in childhood · 1995Article
- Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.American journal of human genetics · 1994Article
- Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.American journal of human genetics · 1994Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosome fragility in two families not exhibiting amplification of the CGG trinucleotide associated with the fragile X site has been examined. Fluorescence in situ hybridisation with cosmid DNA from loci immediately flanking FRAXA and other distal loci have confirmed that cytogenetic fragility in these subjects is the result of expression of a new folate sensitive fragile X site, FRAXE.
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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.