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

A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency

6 Jul 2019

Abstract excerpt

BACKGROUND: Premature ovarian insufficiency (POI) leads to early loss of ovarian function in women aged < 40 years and is highly heterogeneous in etiology. The genetic etiology of this disorder remains unknown in most women with POI. METHODS: Whole-exome sequencing (WES) was used to analyze genetic factors within a Chinese POI pedigree. Bioinformatic analysis was applied to identify the potential genetic cause,...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Syndromes and Imprinting
Share to Reproductive Biology and Fertility
Share to RNA Research and Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31279343
DOI: 10.1186/s13048-019-0537-x

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

A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiencyPMID 31279343Read ↗

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

Association analysis between HFM1 variation and primary ovarian insufficiency in Chinese women.Semantic proximity Read ↗

Novel loss‐of‐function mutation in MCM8 causes premature ovarian insufficiencySemantic proximity Read ↗

Novel deleterious splicing variant in HFM1 causes gametogenesis defect and recurrent implantation failure: concerning the risk of chromosomal abnormalities in embryosSemantic proximity Read ↗

Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.Semantic proximity Read ↗

A novel splicing mutation in helicase for meiosis 1 leads to non-obstructive azoospermia.Semantic proximity Read ↗

Identification of potential causal variants for premature ovarian failure by whole exome sequencing.Semantic proximity Read ↗

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

Two novel biallelic mutations in PSMC3IP in a Chinese patient affected by primary ovarian insufficiency: case report and review of the literatureSemantic proximity Read ↗

New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing.Semantic proximity Read ↗

Whole exome sequencing identifies a novel homozygous missense mutation of LHCGR gene in primary infertile women with empty follicle syndrome.Semantic proximity Read ↗

A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing.Semantic proximity Read ↗

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