Associated Papers
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.
Fanis P et al.
International Journal of Molecular Sciences, 2023
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Wang T et al.
Ebiomedicine, 2022
35665681 (PubMed )
Supplement: mmc24.xlsx › Sheet1
Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
Dwyer AA et al.
Frontiers in Endocrinology, 2022
36407308 (PubMed )
Supplement: Table_1.docx
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).
Gianetti E et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Neale BM et al.
Nature, 2012
22495311 (PubMed )
Supplement: NIHMS361899-supplement-2.xls › De_Novo_Mutations
G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.
Noel SD et al.
Molecular and Cellular Endocrinology, 2011
Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations.
Kim HG et al.
Frontiers of Hormone Research, 2010
Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.
Cerrato F et al.
European Journal of Endocrinology, 2006
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