ArticleJournal of medical genetics1991
Genotype prediction in the fragile X syndrome.
Article in Journal of medical genetics, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.American journal of human genetics · 1994Trial
- The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.The Journal of molecular diagnostics : JMD · 2010Article
- Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection.Human genetics · 1995Article
- DNA testing for fragile X syndrome in schools for learning difficulties.Archives of disease in childhood · 1995Article
- Two new cases of FMR1 deletion associated with mental impairment.American journal of human genetics · 1995Article
- Absence of FMR-1 gene expression can be detected with RNA extracted from dried blood specimens.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
- Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families.Human genetics · 1993Article
- Origins of the fragile X syndrome mutation.Journal of medical genetics · 1993Article
- Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.Journal of medical genetics · 1993Article
- Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'.Journal of medical genetics · 1992Article
- A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.American journal of human genetics · 1992Article
- Genotype mosaicism in fragile X fetal tissues.Human genetics · 1992Article
- Molecular analysis of the fragile X syndrome.Journal of inherited metabolic disease · 1992Review
- Molecular genetics of fragile X: a cytogenetics viewpoint. Report of the Fifth International Symposium on X Linked Mental Retardation, Strasbourg, France, 12 to 16 August 1991 (organiser Dr J-L Mandel).Journal of medical genetics · 1991Review
- Cloning of the gene for the fragile X syndrome: implications for the clinical geneticist.Journal of medical genetics · 1991Review
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
Fragile X positive, mentally retarded males have been shown to have an insertion or amplification of DNA sequences at, or close to, the site of expression of the fragile site. We show here the application of the detection of such changes to the diagnosis of affected males and female carriers and the identification of normal transmitting males. One fragile X negative male with the clinical features of the Martin-Bell syndrome also possesses an inserted/amplified DNA sequence. The implications of these results for screening for the fragile X syndrome are discussed.
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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.