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
Functional Rescue of Inactivating Mutations of the Human Neurokinin 3 Receptor Using Pharmacological Chaperones.
Anderson RC et al.
International Journal of Molecular Sciences, 2022
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism.
Gürbüz F et al.
Journal of Clinical Research in Pediatric Endocrinology, 2012
G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.
Noel SD et al.
Molecular and Cellular Endocrinology, 2011
Genetics basis for GnRH-dependent pubertal disorders in humans.
Silveira LF et al.
Molecular and Cellular Endocrinology, 2010
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.
Gianetti E et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships.
Brioude F et al.
European Journal of Endocrinology, 2010
Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother.
Fukami M et al.
Hormone Research in Paediatrics, 2010
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.
Bianco SD et al.
Nature Reviews. Endocrinology, 2009
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.
Topaloglu AK et al.
Nature Genetics, 2009
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0
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