GuidelineJournal of medical genetics1993
Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.
Guideline 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 24 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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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
24 citing papers in PubMed.
- The Epigenetics of Migraine.International journal of molecular sciences · 2023Review
- Article
- 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
- Longitudinal in vivo developmental changes of metabolites in the hippocampus of Fmr1 knockout mice.Journal of neurochemistry · 2012Article
- The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.The Clinical biochemist. Reviews · 2011Article
- Prediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseases.The EPMA journal · 2011Article
- Aberrant brain activation during gaze processing in boys with fragile X syndrome.Archives of general psychiatry · 2008Article
- Validity of analysis of FMRP expression in blood smears as a screening test for Fragile X Syndrome in the Indian population.Journal of clinical laboratory analysis · 2005Article
- FMR1 haplotype analyses among Indians: a weak founder effect and other findings.Human genetics · 2003Article
- Noninvasive test for fragile X syndrome, using hair root analysis.American journal of human genetics · 1999Article
- The fragile X syndrome.Journal of medical genetics · 1998Review
- Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.Journal of medical genetics · 1997Article
- Cost effectiveness of DNA diagnosis for four monogenic diseases.Journal of medical genetics · 1997Article
- Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.American journal of human genetics · 1997Article
- The fragile X syndrome.Journal of inherited metabolic disease · 1997Review
- Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal.Journal of medical genetics · 1997Article
- Mental status of females with an FMR1 gene full mutation.American journal of human genetics · 1996Article
- Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.American journal of human genetics · 1995Article
- An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene.American journal of human genetics · 1995Article
- Apparent regression of the CGG repeat in FMR1 to an allele of normal size.Human genetics · 1994Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Direct DNA analysis of the fragile X mutation has become available with the isolation of DNA probes that detect the unstable DNA sequence containing the CGG repeat. We present the various alternatives of combinations of probes and enzymes that can be used for the diagnosis of fragile X syndrome. An overview is given of all the different available probes. A different protocol is presented for postnatal and prenatal diagnosis of fragile X syndrome. This includes Southern blot analysis as well as direct analysis of the CGG repeat by PCR amplification. We discuss the role of constitutional cytogenetic analysis in the diagnosis of mentally retarded subjects and cytogenetic analysis for the diagnosis of fragile X syndrome.
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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.