Evidence map›Paper›PMID 9541099›Full record

ReviewJournal of medical genetics1998

Recurrence risks in mental retardation.

Y J Crow, J L Tolmie

Open access · bronzeAbstract readReview
In one paragraph

Review in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.2field-weighted citation impact, top 20% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 47 citations in OpenAlex.

  1. The recurrence risk of genetic complex diseases.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2017
    Review
  2. Article
  3. Review
  4. Article
  5. Article
  6. Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.Proceedings of the National Academy of Sciences of the United States of America · 2007
    Article
  7. Article
  8. X linked mental retardation: a clinical guide.Journal of medical genetics · 2006
    Review
  9. Article
  10. Article
  11. Article
  12. Review
  13. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 1 institution in 1 country.

Y J CrowDuncan Guthrie Institute of Medical Genetics, Yorkhill Hospitals NHS Trust, Glasgow, UK.
J L Tolmie
Stobhill Hospital · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Despite improvements in diagnostic techniques and progress made in mapping genes associated with syndromal mental handicap, the estimation of recurrence risks in non-syndromal mental retardation is still dependent on empirical data. Unfortunately, few studies are available to guide the clinician and their results differ significantly. For example, recurrence risks to all sibs of a male index patient with severe mental retardation vary between 3.5% and 14% in commonly quoted series. The present review highlights the problems involved in interpreting the previous work in this area and discusses the definition of mental retardation according to the degree of severity, phenotype, and its pattern of inheritance. In planning future studies, an appreciation of these issues should allow us to derive accurate and comparable risk figures for use in counselling affected subjects and their families.

Indexed as

Genetic CounselingFemaleFragile X SyndromeGenetic LinkageHumansIntellectual DisabilityMalePhenotypePrevalenceRisk FactorsSex FactorsX Chromosome

Identifiers

PMID9541099
PMCPMC1051238
OpenAlexW2100493977

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.