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

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

Fertility and sterility - 1 Aug 2011

Yariz Kemal O, Walsh Tom, Uzak Asli, Spiliopoulos Michail, Duman Duygu, Onalan Gogsen, King Mary-Claire, Tekin Mustafa

Abstract excerpt

OBJECTIVE: To test by genomic analysis whether empty follicle syndrome (EFS) in a family with two affected sisters has a genetic basis. DESIGN: Whole-exome sequencing in the context of clinical genetics. SETTING: University hospital. PATIENT(S): Two women (36 and 32 years old at the time of the study) with EFS. INTERVENTION(S): Genetic counseling based on autosomal recessive inheritance. MAIN OUTCOME MEASURE(S):...

Read the complete abstract on PubMed

Topics

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

Share to Chorionic Gonadotropin
Share to Fertility

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Heredity

Share to Infertility, Female

Share to Ovarian Diseases

Share to Receptors, LH

Share to Structure-Activity Relationship

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 21683950
DOI: 10.1016/j.fertnstert.2011.05.057
PMCID: PMC3143235

Genes

EFS
LHCGR

Variants

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

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.PMID 21683950Read ↗

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

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

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

A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian FamilySemantic proximity Read ↗

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

A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencingSemantic proximity Read ↗

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

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

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencingSemantic proximity Read ↗

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

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