Evidence map›Paper›PMID 33187293›Full record

ArticleInternational journal of molecular sciences2020

Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome.

Ilaria Catusi, Maria Teresa Bonati, Ester Mainini, Silvia Russo, Eleonora Orlandini, Lidia Larizza, Maria Paola Recalcati

Open access · goldAbstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2020. 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
0.2field-weighted citation impact, top 37% 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, 3 citations in OpenAlex.

  1. Case report: Duplication of theFrontiers in endocrinology · 2024
    Article
  2. 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

7 authors at 1 institution in 1 country.

Ilaria CatusiLaboratorio di Citogenetica e Genetica Molecolare, Istituto Auxologico Italiano, IRCCS, 20149 Milano, Italy.ORCID 0000-0002-8108-1521
Maria Teresa BonatiAmbulatorio di Genetica Medica, Istituto Auxologico Italiano, IRCCS, 20149 Milano, Italy.
Ester MaininiLaboratorio di Citogenetica e Genetica Molecolare, Istituto Auxologico Italiano, IRCCS, 20149 Milano, Italy.
Silvia RussoLaboratorio di Citogenetica e Genetica Molecolare, Istituto Auxologico Italiano, IRCCS, 20149 Milano, Italy.ORCID 0000-0002-5893-0193
Eleonora OrlandiniAmbulatorio di Genetica Medica, Istituto Auxologico Italiano, IRCCS, 20149 Milano, Italy.
Lidia LarizzaLaboratorio di Citogenetica e Genetica Molecolare, Istituto Auxologico Italiano, IRCCS, 20149 Milano, Italy.
Maria Paola RecalcatiLaboratorio di Citogenetica e Genetica Molecolare, Istituto Auxologico Italiano, IRCCS, 20149 Milano, Italy.ORCID 0000-0003-1780-9837
IRCCS Istituto Auxologico Italiano · IT

Funding

the Italian Ministry of Health RC 08C723
6 · The paper itself

Abstract

Maternal uniparental disomy of chromosome 7 is present in 5-10% of patients with Silver-Russell syndrome (SRS), and duplication of 7p including

Indexed as

AdolescentChromosome InversionChromosomes, Human, Pair 7DNA Copy Number VariationsFemaleGRB10 Adaptor ProteinHumansMeiosisMothersPhenotypeRecombination, GeneticSilver-Russell SyndromeGRB10 Adaptor Proteinarray-CGHAUTS2 genechromosome 7p duplicationchromosome 7 pericentric inversionGRB10 generecombinant chromosomeSilver-Russell syndrome

Identifiers

PMID33187293
PMCPMC7698152
OpenAlexW3104479905

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.