Evidence map›Paper›PMID 30450110›Full record

ArticleFrontiers in genetics2018

FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the

Esperanza Fernández, Elena Gennaro, Filomena Pirozzi, Chiara Baldo, Francesca Forzano, Licia Turolla, Francesca Faravelli, Denise Gastaldo, Domenico Coviello, Marina Grasso and 1 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.7field-weighted citation impact, top 23% 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

6 citing papers in PubMed, 10 citations in OpenAlex.

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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

11 authors at 7 institutions in 4 countries.

Esperanza FernándezCenter for Human Genetics, KU Leuven, Leuven, Belgium.
Elena GennaroLaboratorio di Genetica Umana, Ospedali Galliera, Genoa, Italy.
Filomena PirozziCenter for Human Genetics, KU Leuven, Leuven, Belgium.
Chiara BaldoLaboratorio di Genetica Umana, Ospedali Galliera, Genoa, Italy.
Francesca ForzanoClinical Genetics Department, Borough Wing Guy's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.
Licia TurollaU.O.S. Genetica Medica, Azienda ULSS 2, Treviso, Italy.
Francesca FaravelliClinical Genetics Department, Great Ormond Street Hospital, London, United Kingdom.
Denise GastaldoDepartment of Fundamental Neurosciences, University of Lausanne, Lausanne, Switzerland.
Domenico CovielloLaboratorio di Genetica Umana, Ospedali Galliera, Genoa, Italy.
Marina GrassoLaboratorio di Genetica Umana, Ospedali Galliera, Genoa, Italy.
Claudia BagniCenter for Human Genetics, KU Leuven, Leuven, Belgium.
Ente Ospedaliero Ospedali Galliera · ITKU Leuven · BEAzienda ULSS 9 TREVISO · ITGreat Ormond Street Hospital · GBGuy's and St Thomas' NHS Foundation Trust · GBUniversity of Lausanne · CHVIB-KU Leuven Center for Brain & Disease Research · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fragile X syndrome (FXS) is mostly caused by two distinct events that occur in the

Indexed as

CGG expansionFMR1 mRNAFMRPfragile X syndromemosaicism

Identifiers

PMID30450110
PMCPMC6224343
OpenAlexW2899438194

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.