Evidence map›Paper›PMID 36140775›Full record

ReviewGenes2022

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of

Maria Jose Gómez-Rodríguez, Montserrat Morales-Conejo, Ana Arteche-López, Maria Teresa Sánchez-Calvín, Juan Francisco Quesada-Espinosa, Irene Gómez-Manjón, Carmen Palma-Milla, Jose Miguel Lezana-Rosales, Ruben Pérez de la Fuente, Maria-Luisa Martin-Ramos and 3 more

Open access · goldAbstract readCase ReportsReview
In one paragraph

Review in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.1field-weighted citation impact, top 20% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. NAR molecular medicine · 2024
    Article
  3. 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

13 authors at 1 institution in 1 country.

Maria Jose Gómez-RodríguezGenetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.
Montserrat Morales-ConejoInternal Medicine Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.
Ana Arteche-LópezGenetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.
Maria Teresa Sánchez-CalvínGenetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.ORCID 0000-0003-4504-4907
Juan Francisco Quesada-EspinosaGenetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.ORCID 0000-0002-4420-5214
Irene Gómez-ManjónGenetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.ORCID 0000-0001-7137-1915
Carmen Palma-MillaGenetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.ORCID 0000-0002-1718-4390
Jose Miguel Lezana-RosalesGenetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.ORCID 0000-0003-3510-2077
Ruben Pérez de la FuenteGenetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.ORCID 0000-0002-2749-2709
Maria-Luisa Martin-RamosGenetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.
Manuela Fernández-GuijarroGenetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.
Marta Moreno-GarcíaGenetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.
Maria Isabel Alvarez-MoraGenetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.ORCID 0000-0003-3788-8915
Hospital Universitario 12 De Octubre · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fragile X syndrome (FXS) is caused by an abnormal expansion of the number of trinucleotide CGG repeats located in the 5' UTR in the first exon of the

Indexed as

Fragile X Syndrome5' Untranslated RegionsFragile X Messenger Ribonucleoprotein 1HumansMosaicismTrinucleotide Repeat Expansion5' Untranslated RegionsFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1FMR1FMR1 gene deletionfragile X syndromemosaicismrare FXS mutation

Identifiers

PMID36140775
PMCPMC9498456
OpenAlexW4296137933

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.