Evidence map›Paper›PMID 27775646›Full record

ArticleGenes2016

Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study.

Sonia Merino, Nekane Ibarluzea, Hiart Maortua, Begoña Prieto, Idoia Rouco, Maria-Asunción López-Aríztegui, Maria-Isabel Tejada

Open access · goldAbstract read
In one paragraph

Article in Genes, 2016. 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
1.2field-weighted citation impact, top 16% 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, 12 citations in OpenAlex.

  1. Population-based FMR1 carrier screening among reproductive women.Journal of assisted reproduction and genetics · 2024
    Article
  2. Effect of AGG Interruptions onFrontiers in molecular biosciences · 2020
    Article
  3. 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

7 authors at 1 institution in 1 country.

Sonia MerinoMolecular Genetics Laboratory, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. s.merino.fernandez@osakidetza.eus.
Nekane IbarluzeaMolecular Genetics Laboratory, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. nekane.ibarluzeaguenaga@osakidetza.eus.
Hiart MaortuaMolecular Genetics Laboratory, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. hiart.maortuaolabe@osakidetza.eus.
Begoña PrietoHuman Reproduction Unit, Obstetrics and Gynecology Department, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. mariabegona.prietomolano@osakidetza.eus.
Idoia RoucoAtaxias and Spastic Paraplegias Unit, Neurology Department, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. idoia.roucoaxpe@osakidetza.eus.
Maria-Asunción López-ArízteguiClinical Group Affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), 46010-Valencia, Spain. malopezariztegui@yahoo.es.
Maria-Isabel TejadaMolecular Genetics Laboratory, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. mariaisabel.tejadaminguez@osakidetza.eus.
BioCruces Health research Institute · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are definitely related to the fragile X mental retardation 1 (

Indexed as

FMR1premutationfragile XFXPOIFXTAShypothyroidism

Identifiers

PMID27775646
PMCPMC5083929
OpenAlexW2538024558

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.