Associated Papers
Successful Live Birth Outcome in A Patient with Empty Follicle Syndrome: A Case Report and Literature Review.
Hong F et al.
Reproductive Sciences (thousand Oaks, Calif.), 2025
LHCGR inactivating variants: single center experience and systematic review of phenotype-genotype of 46,XY and 46,XX patients.
Barnabas R et al.
Endocrine Connections, 2024
39162678 (PubMed )
Supplement: supplementary_tables.pdf
Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.
Ulloa-Aguirre A et al.
International Journal of Molecular Sciences, 2021
Molecular Characterization of Astrocytoma Progression Towards Secondary Glioblastomas Utilizing Patient-Matched Tumor Pairs.
Seifert M et al.
Cancers, 2020
32604718 (PubMed )
Supplement: cancers-12-01696-s001.zip › Supporting_Tables_and_Figures › Table_S8_ExomeSeq_Predictions.xlsx › MuTect_SNV_Predictions
A novel homozygous frame-shift variant in the LHCGR gene is associated with primary ovarian insufficiency in a Pakistani family.
Zielen AC et al.
Clinical Genetics, 2018
Novel homozygous nonsense mutations in LHCGR lead to empty follicle syndrome and 46, XY disorder of sex development.
Chen C et al.
Human Reproduction (oxford, England), 2018
Genetic evidence of 'genuine' empty follicle syndrome: a novel effective mutation in the LHCGR gene and review of the literature.
Yuan P et al.
Human Reproduction (oxford, England), 2017
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