Evidence map›Paper›PMID 39202375›Full record

ArticleGenes2024

Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.

Vasileia Christodoulaki, Konstantina Kosma, Nikolaos M Marinakis, Faidon-Nikolaos Tilemis, Nikolaos Stergiou, Afroditi Kampouraki, Charalampos Kapogiannis, Vasiliki Karava, Andromachi Mitsioni, Maria Mila and 4 more

Abstract read
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
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

5 citing papers in PubMed.

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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

14 authors.

Vasileia ChristodoulakiLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.
Konstantina KosmaLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.
Nikolaos M MarinakisLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.ORCID 0000-0002-7078-3253
Faidon-Nikolaos TilemisLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.ORCID 0000-0001-7600-214X
Nikolaos StergiouFirst Department of Pediatrics, National and Kapodistrian University of Athens Medical School, "Aghia Sophia" Children's Hospital, 11527 Athens, Greece.
Afroditi KampourakiLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.ORCID 0009-0008-7546-7170
Charalampos KapogiannisFirst Department of Pediatrics, National and Kapodistrian University of Athens Medical School, "Aghia Sophia" Children's Hospital, 11527 Athens, Greece.ORCID 0000-0002-0274-6071
Vasiliki KaravaFirst Department of Pediatrics, National and Kapodistrian University of Athens Medical School, "Aghia Sophia" Children's Hospital, 11527 Athens, Greece.ORCID 0000-0003-3638-5179
Andromachi MitsioniDepartment of Nephrology, "P. and A. Kyriakou" Children's Hospital, 11527 Athens, Greece.
Maria MilaDepartment of Nephrology, "P. and A. Kyriakou" Children's Hospital, 11527 Athens, Greece.
Christina Kanaka-GantenbeinFirst Department of Pediatrics, National and Kapodistrian University of Athens Medical School, "Aghia Sophia" Children's Hospital, 11527 Athens, Greece.ORCID 0000-0001-6942-6470
Periklis MakrythanasisLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.
Maria TzetisLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.ORCID 0000-0002-6810-2922
Joanne Traeger-SynodinosLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.ORCID 0000-0002-1860-5628

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Alport syndrome (AS) is a hereditary glomerulopathy due to pathogenic variants in

Indexed as

Nephritis, HereditaryAdolescentAdultChildChild, PreschoolCollagen Type IVEarly DiagnosisExome SequencingFemaleGenetic TestingHumansInfantKidney Failure, ChronicMaleMutationPhenotypeCOL4A4 protein, humanCOL4A5 protein, humanCollagen Type IVAlport syndromecascade screeningchildrenCOL4A3COL4A4COL4A5RAAS inhibitors

Identifiers

PMID39202375
PMCPMC11353900

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.