ArticleJournal of medical genetics1995
A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci.
Article in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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.
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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.
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Who cites it
9 citing papers in PubMed, 57 citations in OpenAlex.
- Genetic causes of intellectual disability in a birth cohort: a population-based study.American journal of medical genetics. Part A · 2015Article
- EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.European journal of human genetics : EJHG · 2015Article
- Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts.Neuropsychology · 2012Article
- Lifespan changes in working memory in fragile X premutation males.Brain and cognition · 2009Article
- Age-dependent cognitive changes in carriers of the fragile X syndrome.Cortex; a journal devoted to the study of the nervous system and behavior · 2008Article
- Consensus characterization of 16 FMR1 reference materials: a consortium study.The Journal of molecular diagnostics : JMD · 2008Article
- Mental retardation.Indian journal of pediatrics · 2003Article
- The FRAXE Syndrome: is it time for routine screening?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
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Screening of referrals for the mutations associated with the fragile X syndrome constitutes a significant workload in many genetics laboratories. Since the great majority of these referrals will be negative, there is a need for a rapid and inexpensive screening test. We have developed an assay which allows simultaneous amplification of the triplet repeat sequences at the FRAXA and FRAXE loci by polymerase chain reaction, and detection of the products on non-denaturing gels stained with ethidium bromide. Alleles of normal size are detected, leaving a small minority of samples to be tested by Southern blotting. A PCR based assay for detection of methylation at the CpG island upstream of the FMR-1 gene has also been devised.
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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.