Associated Papers
Updated compendium of genes and variants associated with congenital hypogonadotropic hypogonadism: systematic review, classification pipeline, and network analysis.
Brunello FG et al.
Human Molecular Genetics, 2026
Genetics of Idiopathic Hypogonadotropic Hypogonadism.
Topaloğlu AK et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.
Fanis P et al.
International Journal of Molecular Sciences, 2023
Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism
Çiftci N et al.
Journal of Clinical Research in Pediatric Endocrinology, 2023
Review of human genetic and clinical studies directly relevant to GnRH signalling.
Seminara SB et al.
Journal of Neuroendocrinology, 2022
Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused by GNRHR mutations and women with polycystic ovary syndrome.
Maione L et al.
Human Reproduction (oxford, England), 2019
Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature.
Cioppi F et al.
Andrology, 2019
Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings.
Zhang R et al.
Gene, 2018
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism.
Gonçalves CI et al.
Endocrine Connections, 2017
Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.
Fan Y et al.
Scientific Reports, 2017
Mutations in gonadotropin-releasing hormone signaling pathway in two nIHH patients with successful pregnancy outcomes.
Zernov N et al.
Reproductive Biology and Endocrinology : Rb&e, 2016
Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.
Beneduzzi D et al.
Fertility and Sterility, 2014
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism.
Gürbüz F et al.
Journal of Clinical Research in Pediatric Endocrinology, 2012
Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling.
Tello JA et al.
Plos One, 2012
GnRH receptor mutations in isolated gonadotropic deficiency.
Chevrier L et al.
Molecular and Cellular Endocrinology, 2011
G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.
Noel SD et al.
Molecular and Cellular Endocrinology, 2011
Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships.
Brioude F et al.
European Journal of Endocrinology, 2010
Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations.
Kim HG et al.
Frontiers of Hormone Research, 2010
Molecular genetic analysis of normosmic hypogonadotropic hypogonadism in a Turkish population: identification and detailed functional characterization of a novel mutation in the gonadotropin-releasing hormone receptor gene.
Topaloglu AK et al.
Neuroendocrinology, 2006