ArticleEuropean journal of human genetics : EJHG2000
Reproductive and menstrual history of females with fragile X expansions.
Article in European journal of human genetics : EJHG, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 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.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 121 citations in OpenAlex.
- Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.Journal of genetic counseling · 2005Guideline
- Cerebellar GABA and executive function among adult female carriers of the fragile X messenger ribonucleoprotein 1 premutation: a pilot study to examine neural underpinnings of the clinical phenotype.Neurobiology of disease · 2026Article
- The implications of LncRNAs and premature ovarian insufficiency.Journal of ovarian research · 2025Review
- Review
- Native functions of short tandem repeats.eLife · 2023Article
- Maternal FMR1 alleles expansion in newborns during transmission: a prospective cohort study.Pediatric research · 2023Article
- The diagnostic experience of women with fragile X-associated primary ovarian insufficiency (FXPOI).Journal of assisted reproduction and genetics · 2023Article
- Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management.Frontiers in medicine · 2023Review
- Altered GnRH neuron and ovarian innervation characterize reproductive dysfunction linked to the Fragile X messenger ribonucleoprotein (Frontiers in endocrinology · 2023Article
- Dysregulation of anti-Mullerian hormone expression levels in mural granulosa cells of FMR1 premutation carriers.Scientific reports · 2021Article
- Current Understanding of the Etiology, Symptomatology, and Treatment Options in Premature Ovarian Insufficiency (POI).Frontiers in endocrinology · 2021Review
- 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
- An explanation of the mechanisms underlying fragile X-associated premature ovarian insufficiency.Journal of assisted reproduction and genetics · 2020Article
- FMRpolyG accumulates in FMR1 premutation granulosa cells.Journal of ovarian research · 2020Article
- Defining the role of FMR1 gene in unexplained recurrent spontaneous abortion.Journal of assisted reproduction and genetics · 2019Article
- Fragile X-associated conditions: implications for the whole family.The British journal of general practice : the journal of the Royal College of General Practitioners · 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
- Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.Genes · 2017Article
- Implications of thePediatrics · 2017Review
- Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency.Journal of assisted reproduction and genetics · 2017Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
FRAXA premutations have been associated with premature ovarian failure (POF) or menopause before the age of 40. We have studied women in families ascertained because of a mentally retarded full mutation relative and determined their age of menopause, serum hormone levels in premenopausal individuals and the outcome of any pregnancies. Survival analysis was used as a measure of menopause and demonstrated a significant decrease in age of menopause in premutation carriers compared with their full mutation carrier and normal relatives. Serum FSH was also raised in premutation carriers, although oestradiol, inhibin A and inhibin B were not significantly different. However, we did not find an excess of dizygous twins or pregnancy loss/trisomies, both of which are associated with aging ovaries. Thus premutation carriers as a group have an earlier menopause and raised serum FSH but do not appear to manifest other features of an aging ovary.
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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.