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

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

The journal of obstetrics and gynaecology research - 1 Oct 2023

Xu Yang, Wang Enhua, Liu Tianfeng, Wang Surong, Wu Fengxia, Zhao Xiangyu, Wang Ancong

Abstract excerpt

AIM: The genetic basis of empty follicle syndrome (EFS) is largely unknown, and the aim of this study was to investigate the genetic causes of EFS in primary infertile women. METHODS: Four affected women diagnosed with anovulation were recruited, and whole exome sequencing (WES) was requested for the genetic diagnosis of the cases. One hundred healthy controls were verified by Sanger sequencing. RESULTS: A novel...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Infertility, Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Mutation, Missense

Share to Ovarian Diseases

Source

Identifiers

PMID: 37462066
DOI: 10.1111/jog.15747

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

Whole exome sequencing identifies a novel homozygous missense mutation of LHCGR gene in primary infertile women with empty follicle syndrome.PMID 37462066Read ↗

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.Semantic proximity Read ↗

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

Novel mutations in LHCGR (luteinizing hormone/choriogonadotropin receptor): expanding the spectrum of mutations responsible for human empty follicle syndrome.Semantic proximity Read ↗

An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.Semantic proximity Read ↗

Genetic evidence of ‘genuine’ empty follicle syndrome: a novel effective mutation in the LHCGR gene and review of the literatureSemantic proximity Read ↗

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations.Semantic proximity Read ↗

Genetic architecture and phenotypic diversity of oocyte and early embryo competence defects in female infertility.Semantic proximity Read ↗

Compound heterozygous <i>ZP1</i> mutations cause empty follicle syndrome in infertile sistersSemantic proximity Read ↗

A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS)Semantic proximity Read ↗

Novel and recurrent genetic variants associated with male and female infertilitySemantic proximity Read ↗

Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of familiesSemantic proximity Read ↗

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea.Semantic proximity Read ↗

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