Evidence map›Paper›PMID 29932076›Full record

ReviewJournal of genetics2018

Aniridia due to a novel microdeletion affecting

Andreas Syrimis, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Michael Nicolaou, Eleni Loukianou, Violetta Christophidou-Anastasiadou, Stavros Malas, Carolina Sismani, George A Tanteles

Abstract readCase ReportsReview
PubMed
In one paragraph

Review in Journal of genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.2field-weighted citation impact, top 47% 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

4 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Review
  3. Novel mutations of theMolecular vision · 2021
    Article
  4. The Spectrum ofGenes · 2019
    Review
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

10 authors at 2 institutions in 1 country.

Andreas SyrimisDepartment of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus. gtanteles@cing.ac.cy.
Nayia Nicolaou
Angelos Alexandrou
Ioannis Papaevripidou
Michael Nicolaou
Eleni Loukianou
Violetta Christophidou-Anastasiadou
Stavros Malas
Carolina Sismani
George A Tanteles
Cyprus Institute of Neurology and Genetics · CYNicosia General Hospital · CY

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Aniridia is a rare congenital ocular malformation that follows an autosomal dominant mode of inheritance. Most patients carry pathogenic point mutations in the paired box 6 gene (

Indexed as

Sequence DeletionAdolescentAdultAniridiaDNA Mutational AnalysisEnhancer Elements, GeneticFamily HealthFemaleHumansMalePAX6 Transcription FactorPedigreePAX6 protein, humanPAX6 Transcription Factor

Identifiers

PMID29932076
OpenAlexW2804082910

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.