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Article

Identification of novel mutations in FOXL2 associated with premature ovarian failure.

Molecular human reproduction - 1 Aug 2002

Harris S E, Chand A L, Winship I M, Gersak K, Aittomäki K, Shelling A N

Abstract excerpt

Premature ovarian failure (POF) affects approximately 1% of women and is known to be caused by sex chromosome abnormalities, iatrogenic agents and autoimmune diseases, but in the majority of cases the cause is unknown. However, several families have been identified as having an inherited predisposition to POF, suggesting a genetic component to the condition in these cases. The FOXL2 gene of 70 POF patients from...

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Source

Identifiers

PMID: 12149404
DOI: 10.1093/molehr/8.8.729

Genes

FOXL2

Provenance

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of novel mutations in FOXL2 associated with premature ovarian failure.PMID 12149404Read ↗

A novel 30 bp deletion in the FOXL2 gene in a phenotypically normal woman with primary amenorrhoea: case report.Semantic proximity Read ↗

Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure.Semantic proximity Read ↗

The mutations and potential targets of the forkhead transcription factor FOXL2.Semantic proximity Read ↗

Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.Semantic proximity Read ↗

Association of FOXL2 and ERCC6 variants with premature ovarian insufficiency and their potential use in clinical IVF guidance.Semantic proximity Read ↗

Screening for FOXL2 gene mutations in women with premature ovarian failure: an Indian experienceSemantic proximity Read ↗

A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus.Semantic proximity Read ↗

The genetic basis of premature ovarian failure.Semantic proximity Read ↗

Homozygous variants in SYCP2L cause premature ovarian insufficiency.Semantic proximity Read ↗

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Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case reportSemantic proximity Read ↗

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