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Article

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

American journal of medical genetics. Part A - 1 Apr 2024

Quilichini Juliette, Perol Sandrine, Cuisset Laurence, Grotto Sarah, Fouveaut Corinne, Barbot Jean Claude, Verebi Camille, Jordan Pénélope, Héron Delphine, Molina-Gomes Denise, Pipiras Eva, Grynberg Michael, Catteau-Jonard Sophie, Touraine Philippe, Christin-Maître Sophie, Plu-Bureau Geneviève, El Khattabi Laila, Bienvenu Thierry

Abstract excerpt

FMR1 premutation female carriers are at risk of developing premature/primary ovarian insufficiency (POI) with an incomplete penetrance. In this study, we determined the CGG repeat size among 1095 women with diminished ovarian reserve (DOR) / POI and characterized the CGG/AGG substructure in 44 women carrying an abnormal FMR1 repeat expansion number, compared to a group of 25 pregnant women carrying an abnormal...

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Identifiers

PMID: 37987117
DOI: 10.1002/ajmg.a.63479

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.PMID 37987117Read ↗

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