Evidence map›Paper›PMID 33717386›Full record

ArticleRadiology case reports2021

A case report of Joubert syndrome with renal involvement and seizures in a neonate.

Ilir Ahmetgjekaj, Masum Rahman, Fjolla Hyseni, Ali Guy, Kulsum Madani, Kristi Saliaj, Angela Guy, Valon Vokshi, Ina Kola, Juna Musa

Erratum issuedOpen access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Radiology case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.4field-weighted citation impact, top 18% 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

6 citing papers in PubMed, 12 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Novel compound heterozygous variants in theFrontiers in pediatrics · 2024
    Article
  5. Article
  6. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors at 8 institutions in 4 countries.

Ilir AhmetgjekajDepartment of Radiology, UBT and UCC, Pristina, Kosovo.
Masum RahmanDepartment of Neurosurgery, Mayo Clinic, Minnesota.
Fjolla HyseniDepartment of Urology, NYU Langone Health, New York.
Ali GuyNY University, School of Medicine-NYU Medical Center, New York.
Kulsum MadaniDeccan College Of Medical Sciences (DCMS), Telangana, India.
Kristi SaliajUniversity Hospital Center 'Mother Teresa', Tirana, Albania.
Angela GuyMS MA Clinical Psychology Ph.D Student Health Emphasis California School of Professional Psychology Alliant International University, Los Angeles, California.
Valon VokshiDepartment of Anesthesiology, University Clinical Centre of Kosovo, Pristina, Kosovo.
Ina KolaDepartment of Burns and Plastic Surgery, Tirana, Albania.
Juna MusaDepartment of Surgery, Mayo Clinic, MN, 32224 USA.
NYU Langone Health · USDeccan College of Medical Sciences · INMayo Clinic in Arizona · USMother Teresa Hospital · ALUniversity Clinical Center of Kosovo · XKUniversity for Business and Technology · XKUniversity of Medicine Tirana · ALWinnMed · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of "

Indexed as

CEP290ciliopathyJoubert syndromemolar tooth signMRI

Identifiers

PMID33717386
PMCPMC7921194
OpenAlexW3130197047

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.