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Article

FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea.

Reproductive biology and endocrinology : RB&E - 21 Jun 2024

Rodrigues Bárbara, Sousa Vanessa, Yrigollen Carolyn M, Tassone Flora, Villate Olatz, Allen Emily G, Glicksman Anne, Tortora Nicole, Nolin Sarah L, Nogueira António J A, Jorge Paula

Abstract excerpt

BACKGROUND: Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian insufficiency (FXPOI). Only 20% of female premutation carriers develop early ovulatory dysfunction, the reason for this incomplete penetrance is unknown. This study validated the mathematical model in premutation alleles, after...

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Identifiers

PMID: 38907244
DOI: 10.1186/s12958-024-01227-5
PMCID: PMC11191145

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea.PMID 38907244Read ↗

Large-scale analysis of FMR1 CGG repeat length and risk of premature ovarian insufficiency in over 92 000 women.Semantic proximity Read ↗

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.Semantic proximity Read ↗

Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity.Semantic proximity Read ↗

Does the presence of AGG interruptions within the CGG repeat tract have a protective effect on the fertility phenotype of female FMR1 premutation carriers?Semantic proximity Read ↗

Refining reproductive risk for FMR1 premutation carriers in the general obstetric population.Semantic proximity Read ↗

PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene.Semantic proximity Read ↗

Diminished ovarian reserve is not observed in infertility patients with high normal CGG repeats on the fragile X mental retardation 1 (FMR1) geneSemantic proximity Read ↗

FMR1 and the continuum of primary ovarian insufficiency.Semantic proximity Read ↗

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Association analysis of FMR1 genetic variants and primary ovarian insufficiency in South Indian women with a novel approach of CGG repeats classification.Semantic proximity Read ↗

Molecular Characterization of FMR1 Gene by TP-PCR in Women of Reproductive Age and Women with Premature Ovarian Insufficiency.Semantic proximity Read ↗

Early decline in functional ovarian reserve in young women with low (CGGn < 26) FMR1 gene alleles.Semantic proximity Read ↗

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