Associated features in females with an FMR1 premutation
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Wheeler, Anne, et al. Associated Features In Females with an Fmr1 Premutation. BioMed Central Ltd, 2014. https://doi.org/10.17615/jqp5-kq23APA
Wheeler, A., Bailey, J., Berry Kravis, E., Greenberg, J., Losh, M., Mailick, M., Milà, M., Olichney, J., Rodriguez Revenga, L., Sherman, S., Smith, L., Summers, S., Yang, J., & Hagerman, R. (2014). Associated features in females with an FMR1 premutation. BioMed Central Ltd. https://doi.org/10.17615/jqp5-kq23Chicago
Wheeler, Anne, Jr Bailey, Elizabeth Berry Kravis, Jan Greenberg, Molly Losh, Marsha Mailick, Montserrat Milà et al. 2014. Associated Features In Females with an Fmr1 Premutation. BioMed Central Ltd. https://doi.org/10.17615/jqp5-kq23- Creator
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Wheeler, Anne
- Affiliation: School of Medicine, Neurodevelopment Disorders Research Center, Carolina Institute for Developmental Disabilities
- Other Affiliation: RTI International
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Bailey, Donald B, Jr
- Other Affiliation: RTI International
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Berry-Kravis, Elizabeth
- Other Affiliation: Rush Medical Center
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Greenberg, Jan
- Other Affiliation: University of Wisconsin
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Losh, Molly
- Other Affiliation: Northwestern University
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Mailick, Marsha
- Other Affiliation: University of Wisconsin
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Milà, Montserrat
- Other Affiliation: Hospital Clinic
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Olichney, John M
- Other Affiliation: University of California-Davis
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Rodriguez-Revenga, Laia
- Other Affiliation: Hospital Clinic
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Sherman, Stephanie
- Other Affiliation: Emory University
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Smith, Leann
- Other Affiliation: University of Wisconsin
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Summers, Scott
- Other Affiliation: University of California-Davis
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Yang, Jin-Chen
- Other Affiliation: University of California-Davis
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Hagerman, Randi
- Other Affiliation: University of California-Davis
- Abstract
- 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.
- Date of publication
- July 30, 2014
- DOI
- Identifier
- Resource type
- Article
- Rights statement
- In Copyright
- Rights holder
- Anne C Wheeler et al.; licensee BioMed Central Ltd.
- License
- Journal title
- Journal of Neurodevelopmental Disorders
- Journal volume
- 6
- Journal issue
- 1
- Page start
- 30
- Language
- English
- Is the article or chapter peer-reviewed?
- Yes
- ISSN
- 1866-1955
- Bibliographic citation
- Journal of Neurodevelopmental Disorders. 2014 Jul 30;6(1):30
- Publisher
- BioMed Central Ltd
- Access right
- Open Access
- Date uploaded
- August 26, 2015
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