Evidence map›Paper›PMID 38333087›Full record

ArticleFrontiers in pediatrics2024

Identification of a novel

Zuzana Kolkova, Peter Durdik, Veronika Holubekova, Anna Durdikova, Milos Jesenak, Peter Banovcin

Open access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in pediatrics, 2024. 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
1.1field-weighted citation impact, top 22% 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, 2 citations in OpenAlex.

  1. Article
  2. Review
  3. Genetic Insights Into Retinitis Pigmentosa: A De NovoCase reports in ophthalmological medicine · 2026
    Article
  4. 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

6 authors at 2 institutions in 1 country.

Zuzana KolkovaBiomedical Center Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia.
Peter DurdikDepartment of Pediatrics, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia.
Veronika HolubekovaBiomedical Center Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia.
Anna DurdikovaDepartment of Pediatrics, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia.
Milos JesenakDepartment of Pediatrics, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia.
Peter BanovcinDepartment of Pediatrics, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia.
Martin University Hospital · SKComenius University Bratislava · SK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: The mutations in the Methods: Two young brothers from a non-consanguineous Slovak family with diagnosed retinal dystrophy and recurrent respiratory infections were examined. Suspected PCD was diagnosed based on a PICADAR questionnaire, nasal nitric oxide analysis, transmission electron microscopy, high-speed video microscopy analysis, and genetic testing. Results: We identified a novel frameshift Conclusion: The identified novel pathogenic mutation in the

Indexed as

mutationprimary ciliary dyskinesiaretinitis pigmentosaRPGR geneX-linked inheritance

Identifiers

PMID38333087
PMCPMC10850321
OpenAlexW4391228032

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.