Evidence map›Paper›PMID 34065128›Full record

ArticleGenes2021

Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of

Angela Sparago, Flavia Cerrato, Laura Pignata, Francisco Cammarata-Scalisi, Livia Garavelli, Carmelo Piscopo, Alessandra Vancini, Andrea Riccio

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

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.7field-weighted citation impact, top 27% 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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Review
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

8 authors at 4 institutions in 2 countries.

Angela SparagoDepartment of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", 81100 Caserta, Italy.ORCID 0000-0003-4352-945X
Flavia CerratoDepartment of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", 81100 Caserta, Italy.ORCID 0000-0003-3794-3021
Laura PignataDepartment of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", 81100 Caserta, Italy.ORCID 0000-0001-8835-5567
Francisco Cammarata-ScalisiPediatrics Service, Regional Hospital of Antofagasta, 5935 Antofagasta, Chile.
Livia GaravelliMedical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Carmelo PiscopoMedical and Laboratory Genetics Unit, "Antonio Cardarelli" Hospital, 80131 Napoli, Italy.
Alessandra VanciniNeonatal Intensive Care Unit, Maggiore Hospital, 40133 Bologna, Italy.
Andrea RiccioDepartment of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", 81100 Caserta, Italy.
University of Campania "Luigi Vanvitelli" · ITAzienda Sanitaria Unità Locale di Reggio Emilia · ITHospital Regional de Antofagasta · CLOspedale Antonio Cardarelli · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by prenatal and/or postnatal overgrowth, organomegaly, abdominal wall defects and tumor predisposition.

Indexed as

PhenotypeAdolescentAdultBeckwith-Wiedemann SyndromeCyclin-Dependent Kinase Inhibitor p57FemaleHumansLoss of Function MutationMalePedigreeCDKN1C protein, humanCyclin-Dependent Kinase Inhibitor p57Beckwith-Wiedemann syndromeCDKN1Cexomphalosgenomic imprintingloss-of-function mutations

Identifiers

PMID34065128
PMCPMC8151838
OpenAlexW3161641179

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.