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

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

10 Sept 2022

Abstract excerpt

BACKGROUND: Primary Ovarian Insufficiency (POI), a public health problem, affects 1-3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are unknown. Recently, genetic causes were identified, mostly in single families. We studied an unprecedented large cohort of POI to unravel its molecular pathophysiology. METHODS: 375 patients with 70 families were studied using targeted (88 genes) or...

Read the complete abstract on PubMed

Topics

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

Share to Menopause: Health Impacts and Treatments
Share to Ovarian function and disorders
Share to Reproductive Biology and Fertility

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36099812
DOI: 10.1016/j.ebiom.2022.104246

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicinePMID 36099812Read ↗

Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with InfertilitySemantic proximity Read ↗

Genetics of ovarian insufficiency and defects of folliculogenesis.Semantic proximity Read ↗

Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing EraSemantic proximity Read ↗

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

Identifying therapeutic targets for primary ovarian insufficiency through integrated genomic analyses.Semantic proximity Read ↗

Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early interventionSemantic proximity Read ↗

Systematic mapping and in silico reevaluation of genomic copy number variations in primary ovarian insufficiency.Semantic proximity Read ↗

Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency.Semantic proximity Read ↗

Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiencySemantic proximity Read ↗

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiencySemantic proximity Read ↗

Genetics of primary ovarian insufficiency: new developments and opportunities.Semantic proximity Read ↗

Landscape of pathogenic mutations in premature ovarian insufficiency.Semantic proximity Read ↗

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