Evidence map›Paper›PMID 33291420›Full record

ArticleGenes2020

Novel Variant in

Yerai Vado, Arrate Pereda, Isabel Llano-Rivas, Nerea Gorria-Redondo, Ignacio Díez, Guiomar Perez de Nanclares

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.6field-weighted citation impact, top 15% 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

11 citing papers in PubMed, 16 citations in OpenAlex.

  1. Frontiers in cardiovascular medicine · 2026
    Article
  2. Article
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  4. Article
  5. Approach to the Patient With Suspected Silver-Russell Syndrome.The Journal of clinical endocrinology and metabolism · 2024
    Review
  6. Article
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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

6 authors at 4 institutions in 1 country.

Yerai VadoRare Diseases Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, 01009 Araba, Spain.ORCID 0000-0003-4156-9159
Arrate PeredaRare Diseases Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, 01009 Araba, Spain.ORCID 0000-0002-5442-7873
Isabel Llano-RivasService of Genetics, BioCruces Health Research Institute, Hospital Universitario Cruces, Barakaldo, 48903 Bizkaia, Spain.
Nerea Gorria-RedondoService of Paediatric Neurology, Araba University Hospital, Vitoria-Gasteiz, 01009 Araba, Spain.
Ignacio DíezDepartment of Pediatric Endocrinology, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, 01009 Vitoria-Gasteiz, Spain.ORCID 0000-0001-7211-0135
Guiomar Perez de NanclaresRare Diseases Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, 01009 Araba, Spain.ORCID 0000-0002-2424-5294
Hospital Txagorritxu · ESBioCruces Health research Institute · ESHospital Universitario Araba · ESUniversity of the Basque Country · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Silver-Russell syndrome (SRS) is a rare growth-related genetic disorder that is mainly associated with prenatal and postnatal growth retardation. Molecular causes are not clear in all cases, the most common ones being loss of methylation on chromosome 11p15 (≈50%) and maternal uniparental disomy for chromosome 7 (upd(7)mat) (≈10%). However, pathogenic variants in genes such as

Indexed as

FamilyFrameshift MutationChildChromosomes, Human, Pair 11Chromosomes, Human, Pair 7DNA-Binding ProteinsFemaleHumansSilver-Russell SyndromeDNA-Binding ProteinsPLAG1 protein, humanHMGA2-PLAG1-IGF2 pathwayPLAG1Silver–Russell syndrome

Identifiers

PMID33291420
PMCPMC7762056
OpenAlexW3113011830

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.