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
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
Acierno JS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Cassatella D et al.
European Journal of Endocrinology, 2018
29419413 (PubMed )
Supplement: eje-178-377-t002.pdf
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
Impact of mutations in kisspeptin and neurokinin B signaling pathways on human reproduction.
Silveira LG et al.
Brain Research, 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
Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.
Guran T et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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