Evidence map›Paper›PMID 33810554›Full record

ReviewInternational journal of molecular sciences2021

Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.

Laura Fontana, Silvia Tabano, Silvia Maitz, Patrizia Colapietro, Emanuele Garzia, Alberto Giovanni Gerli, Silvia Maria Sirchia, Monica Miozzo

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed
4.0field-weighted citation impact, top 6% 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

30 citing papers in PubMed, 32 citations in OpenAlex.

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  13. Epigenetics and environmental health.Frontiers of medicine · 2024
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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

8 authors at 2 institutions in 1 country.

Laura FontanaDepartment of Health Sciences, Medical Genetics, Università degli Studi di Milano, 20142 Milano, Italy.ORCID 0000-0001-9517-6997
Silvia TabanoDepartment of Pathophysiology and Transplantation, Medical Genetics, Università degli Studi di Milano, 20122 Milano, Italy.ORCID 0000-0002-5260-6691
Silvia MaitzClinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, S. Gerardo Hospital, 20900 Monza, Italy.ORCID 0000-0003-0637-5033
Patrizia ColapietroDepartment of Pathophysiology and Transplantation, Medical Genetics, Università degli Studi di Milano, 20122 Milano, Italy.
Emanuele GarziaIstituto di Medicina Aerospaziale "A. Mosso", Aeronautica Militare, 20138 Milano, Italy.
Alberto Giovanni GerliManagement Engineering Tourbillon Tech SRL, 35100 Padova, Italy.ORCID 0000-0003-4511-6878
Silvia Maria SirchiaDepartment of Health Sciences, Medical Genetics, Università degli Studi di Milano, 20142 Milano, Italy.ORCID 0000-0002-6106-3721
Monica MiozzoDepartment of Health Sciences, Medical Genetics, Università degli Studi di Milano, 20142 Milano, Italy.
University of Milan · ITAzienda Ospedaliera San Gerardo · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Beckwith-Wiedemann syndrome (BWS) is a clinically and genetically heterogeneous overgrowth disease. BWS is caused by (epi)genetic defects at the 11p15 chromosomal region, which harbors two clusters of imprinted genes,

Indexed as

Genomic ImprintingBeckwith-Wiedemann SyndromeCluster AnalysisCyclin-Dependent Kinase Inhibitor p57DNA MethylationEpigenesis, GeneticFemaleGene SilencingGenetic Association StudiesHumansInsulin-Like Growth Factor IIMalePhenotypePotassium Channels, Voltage-GatedPrenatal DiagnosisReproductive Techniques, AssistedCDKN1C protein, humanCyclin-Dependent Kinase Inhibitor p57IGF2 protein, humanInsulin-Like Growth Factor IIKCNQ1OT1 long non-coding RNA, humanPotassium Channels, Voltage-GatedBeckwith-Wiedemann syndromeclinical diagnosisdiscordant monozygotic twinsmolecular testingmultilocus imprinting disturbanceX-chromosome inactivation

Identifiers

PMID33810554
PMCPMC8036922
OpenAlexW3139820343

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.