Evidence map›Paper›PMID 25097672›Full record

ReviewJournal of neurodevelopmental disorders2014

Associated features in females with an FMR1 premutation.

Anne C Wheeler, Donald B Bailey, Elizabeth Berry-Kravis, Jan Greenberg, Molly Losh, Marsha Mailick, Montserrat Milà, John M Olichney, Laia Rodriguez-Revenga, Stephanie Sherman and 4 more

Abstract readReview
In one paragraph

Review in Journal of neurodevelopmental disorders, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers.

0numbers the graph read from it
0cells of the map it votes in
94citing 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

94 citing papers in PubMed.

  1. FMR1 genotype interacts with parenting stress to shape health and functional abilities in older age.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017
    Trial
  2. Article
  3. Article
  4. Cognitive dysfunction in women with theJournal of Alzheimer's disease : JAD · 2026
    Article
  5. Article
  6. Fragile X Syndrome in Adulthood: A Study of Electronic Health Records.American journal on intellectual and developmental disabilities · 2026
    Article
  7. Chronic pain, fatigue, and emotional distress in femaleFrontiers in molecular neuroscience · 2026
    Article
  8. Article
  9. Article
  10. International journal of molecular sciences · 2025
    Article
  11. Article
  12. Biomarkers of balance and gait deficits inFrontiers in aging neuroscience · 2025
    Review
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Review
  20. Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome.American journal on intellectual and developmental disabilities · 2023
    Article

34 more citing papers are in PubMed but not listed here.

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

14 authors.

Anne C WheelerRTI International, 3040 Cornwallis Road, Research Triangle Park, NC 27709, USA ; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Donald B BaileyRTI International, 3040 Cornwallis Road, Research Triangle Park, NC 27709, USA.
Elizabeth Berry-KravisRush Medical Center, 1735 West Harrison Street Suite 718, Chicago, IL 60612, USA.
Jan GreenbergWaisman Center, University of Wisconsin, 1500 Highland Avenue, Madison, WI 53705, USA.
Molly LoshNorthwestern University, 2240 Campus Drive, Evanston, IL 60208-3507, USA.
Marsha MailickWaisman Center, University of Wisconsin, 1500 Highland Avenue, Madison, WI 53705, USA.
Montserrat MilàBiochemistry and Molecular Genetics Department, Hospital Clinic, Villarroel 170, 08036 Barcelona, Spain.
John M OlichneyCenter for Mind and Brain, University of California-Davis, 1 Shields Avenue, Davis, CA 95616, USA ; MIND Institute, University of California Davis, 2825 50th Street, Sacramento, CA 95817, USA.
Laia Rodriguez-RevengaBiochemistry and Molecular Genetics Department, Hospital Clinic, Villarroel 170, 08036 Barcelona, Spain.
Stephanie ShermanEmory University, 615 Michael Street, Atlanta, GA 30322, USA.
Leann SmithWaisman Center, University of Wisconsin, 1500 Highland Avenue, Madison, WI 53705, USA.
Scott SummersCenter for Mind and Brain, University of California-Davis, 1 Shields Avenue, Davis, CA 95616, USA ; MIND Institute, University of California Davis, 2825 50th Street, Sacramento, CA 95817, USA.
Jin-Chen YangCenter for Mind and Brain, University of California-Davis, 1 Shields Avenue, Davis, CA 95616, USA ; MIND Institute, University of California Davis, 2825 50th Street, Sacramento, CA 95817, USA.
Randi HagermanCenter for Mind and Brain, University of California-Davis, 1 Shields Avenue, Davis, CA 95616, USA ; MIND Institute, University of California Davis, 2825 50th Street, Sacramento, CA 95817, USA.

Funding

WISCONSIN CENTER ON MENTAL RETARDATION: CORE SUPPORTP30HD003352 · NICHD · UNIVERSITY OF WISCONSIN-MADISON · PI MESSING, ALBEE · 1985 to 2015
$25.2M
GENOTYPE/PHENOTYPE RELATIONSHIPS IN FRAGILE X FAMILIESR01HD036071 · NICHD · UNIVERSITY OF CALIFORNIA DAVIS · PI PAUL J HAGERMAN, RANDI J. HAGERMAN · 1998 to 2026
$13.8M
A Family-Genetic Study of Autism and Fragile X SyndromeR01MH091131 · NIMH · NORTHWESTERN UNIVERSITY · PI Molly C Losh · 2012 to 2026
$10.1M
NICHD NIH HHS P30 HD003352NICHD NIH HHS R01 HD036071NIMH NIH HHS R01 MH091131
6 · The paper itself

Abstract

Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions is now known to exist for individuals with a premutation, although some features have been more thoroughly studied than others. This review highlights the literature on medical, reproductive, cognitive, and psychiatric features, primarily in females, that have been suggested to be associated with changes in the FMR1 gene. Based on this review, each feature is evaluated with regard to the strength of evidence of association with the premutation. Areas of need for additional focused research and possible intervention strategies are suggested.

Indexed as

FMR1 premutationfragile Xhealth risks

Identifiers

PMID25097672
PMCPMC4121434

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.