Evidence map›Paper›PMID 8411074›Full record

ArticleJournal of medical genetics1993

Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies.

G M Vintiner, K K Lo, S E Holder, R M Winter, S Malcolm

Open access · bronzeAbstract read
In one paragraph

Article 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 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
2.9field-weighted citation impact, top 9% 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, 56 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Genetics of cleft lip and palate : a review.The Malaysian journal of medical sciences : MJMS · 2007
    Article
  6. Article
  7. Face facts: genes, environment, and clefts.American journal of human genetics · 1995
    Article
  8. The major locus for multifactorial nonsyndromic cleft lip maps to mouse chromosome 11.Mammalian genome : official journal of the International Mammalian Genome Society · 1995
    Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Current concepts in genetics of nonsyndromic clefts.Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors.

G M VintinerMolecular Genetics Unit, Institute of Child Health, London, UK.
K K Lo
S E Holder
R M Winter
S Malcolm

Funding

Wellcome Trust
6 · The paper itself

Abstract

Candidate genes and marker loci for cleft lip/palate (CL/P) were tested using linkage analyses and association studies. Eight British families with apparent autosomal dominant inheritance of non-syndromic CL/P participated in the linkage analyses while the association analyses involved 61 unrelated British white people with CL/P and 60 controls. The report of an association between RARA (17q21) and unrelated Australian persons with CL/P (p = 0.016) was not confirmed in British CL/P persons (chi 2 = 0.954, p > 0.1). There was also no evidence of linkage between RARA and the eight CL/P families (Z = -3.211, theta = 0.001). Linkage was excluded between familial CL/P and F13A1 (map position 6p24-25) with an observed maximum lod score of Z = -2.052 at theta = 0.05. No association was found between alleles at VIM (10p13) and the British CL/P subjects (chi 2 = 0.110, p > 0.5). Multipoint analysis excluded linkage between familial CL/P and the markers D1S65 and D1S58 which flank the Van der Woude syndrome locus with a maximum lod score of Z = -4.0. This suggests that the genetic defect underlying VWS is not the same as in non-syndromic CL/P. There was no evidence of linkage between CRTL1 (5q15) and the eight CL/P families (Z = -3.466, theta = 0.05).

Indexed as

Extracellular Matrix ProteinsGenetic LinkageBase SequenceChi-Square DistributionChromosomes, Human, Pair 10Chromosomes, Human, Pair 5Cleft LipCleft PalateDNA PrimersDNA, SatelliteGene FrequencyHumansLod ScoreMolecular Sequence DataPolymerase Chain ReactionProteinsDNA PrimersDNA, SatelliteExtracellular Matrix ProteinsProteinsProteoglycan Link ProteinProteoglycansRARA protein, humanReceptors, Retinoic AcidRetinoic Acid Receptor alphaVimentin

Identifiers

PMID8411074
PMCPMC1016536
OpenAlexW2140853855

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.