Associated Papers
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
Genetics basis for GnRH-dependent pubertal disorders in humans.
Silveira LF et al.
Molecular and Cellular Endocrinology, 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
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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