ArticleJournal of medical genetics1992
Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'.
Article in Journal of medical genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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
10 citing papers in PubMed, 21 citations in OpenAlex.
- 2017 Presidential Address: Checking, Balancing, and Celebrating Diversity: Celebrating Some of the Women Who Paved the Way.American journal of human genetics · 2018Article
- Review
- Molecular analysis and test of linkage between the FMR-1 gene and infantile autism in multiplex families.American journal of human genetics · 1994Article
- Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families.Human genetics · 1994Article
- Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors.Journal of genetic counseling · 1994Article
- Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.American journal of human genetics · 1994Article
- Diagnosis of fragile X syndrome by direct mutation analysis.Human genetics · 1994Article
- Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.American journal of human genetics · 1993Article
- Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate.Human genetics · 1993Article
- Population studies of the fragile X: a molecular approach.Journal of medical genetics · 1993Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In five of 40 fra(X) families reinvestigated using the new intragenic probe StB12.3, small amplifications of the DNA fragment appeared unexpectedly in addition to the mutations found in the probands. This suggests that enlargements of the FMR-1 gene detectable by Southern blotting using this probe must be present at an appreciable frequency in the general population. A proportion of these may be classifiable as 'premutations', or precursors of the much amplified, hypermethylated, and somatically unstable fragment associated with the fragile X syndrome, while others will merely represent stable polymorphisms in fragment length. Hence, accurate diagnosis of some fra(X) carriers will depend upon a more precise measurement of insert size than is currently provided by the newly available molecular probes.
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