Evidence map›Paper›PMID 41155394›Full record

ArticleInternational journal of molecular sciences2025

Personalized Follow Up and Genetic Diagnosis Update of

Ana Roche-Martínez, Ariadna Ramírez-Mallafré, Lorena Joga-Elvira, Camen Manso-Bazus, Marta Rubio-Roy, Neus Baena-Diez

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Ana Roche-MartínezPediatric Neurology Department, Parc Taulí University Hospital, I3PT-CERCA, UAB, 08208 Sabadell, Spain.
Ariadna Ramírez-MallafréPediatric Neurology Department, Parc Taulí University Hospital, I3PT-CERCA, UAB, 08208 Sabadell, Spain.
Lorena Joga-ElviraPediatric Neurology Department, Parc Taulí University Hospital, I3PT-CERCA, UAB, 08208 Sabadell, Spain.ORCID 0000-0003-4697-724X
Camen Manso-BazusGenomic Medicine, Parc Taulí University Hospital, I3PT-CERCA, UAB, 08208 Sabadell, Spain.
Marta Rubio-RoyNeurology Department, Parc Taulí University Hospital, 08208 Sabadell, Spain.
Neus Baena-DiezGenomic Medicine, Parc Taulí University Hospital, I3PT-CERCA, UAB, 08208 Sabadell, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fragile X syndrome (FXS, OMIM#300624) is the most common inherited cause of X-linked intellectual disability and behavior difficulties. In 99% of cases, it is caused by the pathological expansion (>200 repeats, full mutation -FM) of the CGG trinucleotide located at the 5' UTR of the

Indexed as

Fragile X Messenger Ribonucleoprotein 1Fragile X SyndromeAdolescentAdultChildChild, PreschoolFemaleFollow-Up StudiesGenetic TestingHumansMaleMutationPedigreePhenotypePrecision MedicinePrognosisFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1FXSmosaic conditionspermutation/full mutation mosaicspreferential X chromosome inactivationrevisited diagnosis

Identifiers

PMID41155394
PMCPMC12562607

What OpenQuestion holds

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Registered trials

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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.