Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency.

Reproductive biomedicine online - 1 Nov 2021

Demain Leigh A M, Boetje Eline, Edgerley Jonathan J, Miles Emma, Fitzgerald Cheryl T, Busby Gail, Beaman Glenda M, O'Sullivan James, O'Keefe Raymond T, Newman William G

Abstract excerpt

RESEARCH QUESTION: Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 21-year-old woman with primary amenorrhoea? DESIGN: A karyotype and genetic testing for Fragile X syndrome was undertaken. A next-generation sequencing panel of 24 genes associated with syndromal and non-syndromal POI was conducted. RESULTS: A nonsense variant c.1336G>T, p.(Glu446Ter) and whole gene...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amenorrhea
Share to Cell Cycle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Gene Deletion

Share to High-Throughput Nucleotide Sequencing

Share to Karyotyping

Share to Primary Ovarian Insufficiency

Share to Puberty

Source

Identifiers

PMID: 34497033
DOI: 10.1016/j.rbmo.2021.07.003

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency.PMID 34497033Read ↗

STAG3 truncating variant as the cause of primary ovarian insufficiency.Semantic proximity Read ↗

Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiencySemantic proximity Read ↗

Whole-exome sequencing identifies a homozygous donor splice-site mutation in STAG3 that causes primary ovarian insufficiency.Semantic proximity Read ↗

A Long Contiguous Stretch of Homozygosity Disclosed a Novel STAG3 Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature.Semantic proximity Read ↗

A Long contiguous stretches of homozygosity disclosed a novel biallelic pathogenic variant in STAG3 causing Primary Ovarian InsufficiencySemantic proximity Read ↗

A STAG3 missense mutation in two sisters with primary ovarian insufficiencySemantic proximity Read ↗

Novel STAG3 variant associated with primary ovarian insufficiency and non-obstructive azoospermia in an Iranian consanguineous familySemantic proximity Read ↗

Investigation of the molecular genetic causes of non-syndromic primary ovarian ınsufficiency by next generation sequencing analysis.Semantic proximity Read ↗

Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency.Semantic proximity Read ↗

In-Frame Variants in STAG3 Gene Cause Premature Ovarian InsufficiencySemantic proximity Read ↗

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of DiseaseSemantic proximity Read ↗

Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.