Evidence map›Paper›PMID 40869951›Full record

ArticleGenes2025

Maria Dobre, Gisela Gaina, Alina Erbescu, Adelina Glangher, Florentina Ionela Linca, Doina Ioana, Emilia Maria Severin, Florina Rad, Mihaela Catrinel Iliescu, Sorina Mihaela Papuc and 3 more

Abstract read
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

13 authors.

Maria DobreVictor Babes National Institute of Pathology, 050096 Bucharest, Romania.
Gisela GainaVictor Babes National Institute of Pathology, 050096 Bucharest, Romania.ORCID 0009-0007-2582-3248
Alina ErbescuVictor Babes National Institute of Pathology, 050096 Bucharest, Romania.
Adelina GlangherProf. Dr. Alexandru Obregia Clinical Hospital of Pathology, 041914 Bucharest, Romania.
Florentina Ionela LincaProf. Dr. Alexandru Obregia Clinical Hospital of Pathology, 041914 Bucharest, Romania.ORCID 0000-0002-1697-9132
Doina IoanaProf. Dr. Alexandru Obregia Clinical Hospital of Pathology, 041914 Bucharest, Romania.
Emilia Maria SeverinFaculty of Medicine, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.ORCID 0000-0003-3901-615X
Florina RadFaculty of Medicine, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Mihaela Catrinel IliescuFaculty of Medicine, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Sorina Mihaela PapucVictor Babes National Institute of Pathology, 050096 Bucharest, Romania.ORCID 0000-0002-1352-3535
Mihail Eugen HinescuVictor Babes National Institute of Pathology, 050096 Bucharest, Romania.ORCID 0000-0002-7740-9336
Aurora ArghirVictor Babes National Institute of Pathology, 050096 Bucharest, Romania.ORCID 0000-0002-9315-5604
Magdalena BudișteanuVictor Babes National Institute of Pathology, 050096 Bucharest, Romania.

Funding

Core Program within the National Research, Development, and Innovation Plan, 2022-2027, with the support of MCID project no. 10N/01.01.2023, PN 23.16.02.03EEA Grant 2014-2021 Programme, UEFISCDI No. 6/2019
6 · The paper itself

Abstract

BACKGROUND/

objectivesAutism spectrum disorders (ASDs) are neurodevelopmental conditions with early onset of clinical manifestations. ASD etiology is highly heterogeneous, with genetic factors being strong determinants of the behavioral problems and neurodevelopmental deficits. Fragile X syndrome (FXS) (OMIM #300624), caused by the transcriptional silencing of the

methodsThe methods, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and triplet-primed PCR (TP-PCR)/melt curve analysis (MCA), were chosen for their ability to detect the methylation anomalies (the former) as well as repeat expansions in the

resultsBoth methods used in our screening generated concordant results, detecting

conclusionsThe combined use of MS-MLPA and TP-PCR/MCA-based assay was, in our experience, useful to fully describe the genetic defects responsible for FXS. A significant variability of clinical presentations was observed in our small group of children with FXS, from mild to severe intellectual disability and from atypical to characteristic dysmorphic features, as well as various behavioral problems.

Indexed as

Autism Spectrum DisorderDNA MethylationFragile X Messenger Ribonucleoprotein 1Trinucleotide Repeat ExpansionAdolescentChildChild, PreschoolCohort StudiesFragile X SyndromeGenetic TestingHumansMaleMutationPromoter Regions, GeneticFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1autismFragile X syndromeneurodevelopmental conditionstriplet repeat expansion

Identifiers

PMID40869951
PMCPMC12385369

What OpenQuestion holds

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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.