ArticleAmerican journal of human genetics1994
Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.
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 24 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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Who cites it
24 citing papers in PubMed, 119 citations in OpenAlex.
- The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10.Frontiers in genetics · 2022Review
- Fragile sites, chromosomal lesions, tandem repeats, and disease.Frontiers in genetics · 2022Review
- GC-rich repeat expansions: associated disorders and mechanisms.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2021Article
- Review
- Autism spectrum disorder: FRAXE mutation, a rare etiology.Journal of autism and developmental disorders · 2015Article
- Laf4/Aff3, a gene involved in intellectual disability, is required for cellular migration in the mouse cerebral cortex.PloS one · 2014Article
- Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia.Biochimica et biophysica acta · 2012Review
- Instability and chromatin structure of expanded trinucleotide repeats.Trends in genetics : TIG · 2009Review
- Fragile X (CGG)n repeats induce a transcriptional repression in cis upon a linked promoter: evidence for a chromatin mediated effect.BMC molecular biology · 2003Article
- 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
- FRAXA and FRAXE: the results of a five year survey.Journal of medical genetics · 2000Article
- Studies of FRAXA and FRAXE in women with premature ovarian failure.Journal of medical genetics · 1998Article
- 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
- 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
- CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro.Nucleic acids research · 1995Article
- FRAXE expansion is not a common etiological factor among developmentally delayed males.American journal of human genetics · 1995Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 2 countries.
Funding
Abstract
We have recently shown that the expression of the FRAXE fragile site in Xq28 is associated with the expansion of a GCC trinucleotide repeat. In the families studied, FRAXE expression is also associated with mild mental handicap. Here we present data on families that previously had been diagnosed as having the fragile X syndrome but that later were found to be negative for trinucleotide repeat expansion at the FRAXA locus. In these families we demonstrate the presence of a GCC trinucleotide repeat expansion at the FRAXE locus. Studies of the FRAXE locus of normal individuals show that they have 6-25 copies of the repeat, whereas affected individuals have > 200 copies. As in the fragile X syndrome, the amplified CpG residues are methylated in affected males.
Indexed as
Identifiers
8023854PMC1918210W1529548736What 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.