Evidence map›Paper›PMID 33707356›Full record

ArticleJournal of genetics2021

Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot.

Diana Carli, Alice Moroni, Di Gregorio Eleonora, Andrea Zonta, Davide Montin, Francesco Licciardi, Enrico Aidala, Roberto Bordese, Pace Napoleone Carlo, Alfredo Brusco and 2 more

Abstract readCase Reports
PubMed
In one paragraph

Article in Journal of genetics, 2021. 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
0.5field-weighted citation impact, top 39% 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, 7 citations in OpenAlex.

  1. Article
  2. Review
  3. 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

12 authors at 3 institutions in 1 country.

Diana CarliClinical Pediatric Genetics, Department of Public Health Sciences and Pediatrics, University of Torino, 10126 Torino, Italy. giovannibattista.ferrero@unito.it.
Alice Moroni
Di Gregorio Eleonora
Andrea Zonta
Davide Montin
Francesco Licciardi
Enrico Aidala
Roberto Bordese
Pace Napoleone Carlo
Alfredo Brusco
Ferrero Giovanni Battista
Alessandro Mussa
Ospedale Regina Margherita · ITAzienda Ospedaliera Citta' della Salute e della Scienza di Torino · ITUniversity of Turin · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The 22q11.2 microdeletion syndrome (22q11.2 DGS) is characterized by an extreme intrafamilial and interfamilial variability. The main clinical features are congenital heart defects, palatal abnormalities, learning disability, facial dysmorphisms and immune deficiency. In 85-90% of cases, the 22q11.2 DGS is caused by a heterozygous ~3-Mb deletion, including the

Indexed as

Chromosome DeletionChromosomes, Human, Pair 22Comparative Genomic HybridizationDiGeorge SyndromeHumansInfantMaleTetralogy of Fallot

Identifiers

PMID33707356
OpenAlexW3134091942

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.