Evidence map›Paper›PMID 31443223›Full record

ArticleCells2019

Clinical and Genetic Analysis of Children with Kartagener Syndrome.

Rute Pereira, Telma Barbosa, Luís Gales, Elsa Oliveira, Rosário Santos, Jorge Oliveira, Mário Sousa

Open access · goldAbstract read
In one paragraph

Article in Cells, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 1 pooled it
4.0field-weighted citation impact, top 5% 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

23 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Further evidence fromiScience · 2024
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  9. InnovativeFrontiers in genetics · 2022
    Review
  10. Novel Compound Heterozygous Variants inPharmacogenomics and personalized medicine · 2022
    Article
  11. Article
  12. Article
  13. Ependymal ciliary motion and their role in congenital hydrocephalus.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021
    Article
  14. Review
  15. [Dyspnea and situs inversus in a boy aged 3 days].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2021
    Article
  16. Article
  17. Article
  18. Article
  19. Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis.The American journal of case reports · 2020
    Article
  20. 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

7 authors at 2 institutions in 1 country.

Rute PereiraLaboratory of Cell Biology, Department of Microscopy, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto (UP), Rua Jorge Viterbo Ferreira, 228, 4050-313 Porto, Portugal.ORCID 0000-0002-8434-5086
Telma BarbosaDepartment of Pediatrics, Maternal Child Center of the North (CMIN), University Hospital Center of Porto (CHUP), Largo da Maternidade de Júlio Dinis, 4050-651 Porto, Portugal.
Luís GalesDepartment of Molecular Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto (UP), Rua Jorge Viterbo Ferreira, 228, 4050-313 Porto, Portugal.ORCID 0000-0002-8352-6539
Elsa OliveiraLaboratory of Cell Biology, Department of Microscopy, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto (UP), Rua Jorge Viterbo Ferreira, 228, 4050-313 Porto, Portugal.
Rosário SantosMultidisciplinary Unit for Biomedical Research (UMIB), ICBAS-UP, 4050-313 Porto, Portugal.ORCID 0000-0002-8594-6377
Jorge OliveiraMultidisciplinary Unit for Biomedical Research (UMIB), ICBAS-UP, 4050-313 Porto, Portugal.ORCID 0000-0003-3924-6385
Mário SousaLaboratory of Cell Biology, Department of Microscopy, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto (UP), Rua Jorge Viterbo Ferreira, 228, 4050-313 Porto, Portugal. msousa@icbas.up.pt.
Universidade do Porto · PTCentro Hospitalar do Porto · PT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia causing ineffective mucus clearance and organ laterality defects. In this study, two unrelated Portuguese children with strong PCD suspicion underwent extensive clinical and genetic assessments by whole-exome sequencing (WES), as well as ultrastructural analysis of cilia by transmission electron microscopy (TEM) to identify their genetic etiology. These analyses confirmed the diagnostic of Kartagener syndrome (KS) (PCD with

Indexed as

Axonemal DyneinsChildCiliaDyneinsExome SequencingFemaleGenetic TestingHumansKartagener SyndromeMaleMutationPortugalProteinsAxonemal DyneinsCCDC40 protein, humanDNAH5 protein, humanDNAH7 protein, humanDyneinsProteinsCCDC40DNAH5DNAH7primary ciliary dyskinesiasitus inversuswhole-exome sequencing

Identifiers

PMID31443223
PMCPMC6721662
OpenAlexW2967085517

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.