ArticleGenetics in medicine : official journal of the American College of Medical Genetics2011
Predictors and risk model development for menopausal age in fragile X premutation carriers.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Guideline
- FMR1 Premutation Carrier Mothers' Daily Negative Affect and Cortisol: Probing the Impacts of Stress Exposure, Coping Style, and CGG Repeats.American journal on intellectual and developmental disabilities · 2025Article
- Review
- Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.Fertility and sterility · 2021Article
- Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Reproductive Longevity and Aging: Geroscience Approaches to Maintain Long-Term Ovarian Fitness.The journals of gerontology. Series A, Biological sciences and medical sciences · 2021Review
- Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- IsFrontiers in psychiatry · 2021Article
- Optimizing Fertility in Primary Ovarian Insufficiency: Case Report and Literature Review.Frontiers in genetics · 2021Article
- Study of telomere length in men who carry a fragile X premutation or full mutation allele.Human genetics · 2020Article
- The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency: is it RNA or protein based?Molecular human reproduction · 2020Review
- The significance of FMR1 CGG repeats in Chinese women with premature ovarian insufficiency and diminished ovarian reserve.Reproductive biology and endocrinology : RB&E · 2020Article
- Are ovarian response and pregnancy rates similar in selected FMR1 premutated and mutated patients undergoing preimplantation genetic testing?Journal of assisted reproduction and genetics · 2020Article
- Positive Emotional Support in Premutation Carrier Mothers of Adolescents and Adults With Fragile X Syndrome: Gene by Environment Interactions.American journal on intellectual and developmental disabilities · 2019Article
- Data-driven phenotype discovery ofScience advances · 2019Article
- CGG repeat length and AGG interruptions as indicators of fragile X-associated diminished ovarian reserve.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review.Frontiers in genetics · 2018Review
- FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation.Frontiers in genetics · 2018Article
- Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length.American journal of medical genetics. Part A · 2017Article
- Endocrine Dysfunction in Female FMR1 Premutation Carriers: Characteristics and Association with Ill Health.Genes · 2016Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 3 countries.
Funding
Abstract
purposeWomen who carry a fragile X mental retardation 1 premutation are at risk for fragile X-associated primary ovarian insufficiency and should be counseled for a potentially reduced fertility. Multiple factors can affect the age of onset and severity of fragile X-associated primary ovarian insufficiency. In this study, we assessed the predictive power of several factors with menopausal age, a surrogate measure of onset of fragile X-associated primary ovarian insufficiency.
methodsGenetic, environmental, and reproductive factors were analyzed by Cox proportional hazard models in 1068 women, 385 of fragile X families ascertained through the Nijmegen study and 683 of fragile X families or general population families ascertained through the Atlanta study.
resultsThe highest association with menopausal age among fragile X mental retardation 1 premutation carriers was found for risk index by CGG repeat size (hazard ratio, 1.43) and smoking (hazard ratio, 1.34). Women from the Nijmegen cohort showed an overall lower age at menopause onset, for which a correction was made. A prediction model based on these two parameters, mean menopausal age of first-degree relatives with the same mutation status and the correction for ascertainment site, estimated the probability of becoming postmenopausal for premutation carriers, with a margin of 7-10%.
conclusionWe conclude that this model serves as a first step toward clinical application of fragile X-associated primary ovarian insufficiency prediction.
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Registered trials
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.