Associated Papers
Familial hypogonadotropic hypogonadism: The convergence of two genetic defects.
Muñoz Arenas L et al.
Endocrinologia, Diabetes Y Nutricion, 2025
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
Review of human genetic and clinical studies directly relevant to GnRH signalling.
Seminara SB et al.
Journal of Neuroendocrinology, 2022
Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.
Ulloa-Aguirre A et al.
International Journal of Molecular Sciences, 2021
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
A novel GNRHR gene mutation causing congenital hypogonadotrophic hypogonadism in a Brazilian kindred.
Correa-Silva SR et al.
Journal of Neuroendocrinology, 2018
Autosomal single-gene disorders involved in human infertility.
Jedidi I et al.
Saudi Journal of Biological Sciences, 2018
Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.
Beneduzzi D et al.
Fertility and Sterility, 2014
Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling.
Tello JA et al.
Plos One, 2012
The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Quaynor SD et al.
Fertility and Sterility, 2011
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
Salt bridges overlapping the gonadotropin-releasing hormone receptor agonist binding site reveal a coincidence detector for G protein-coupled receptor activation.
Janovick JA et al.
The Journal of Pharmacology and Experimental Therapeutics, 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
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
Lin L et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
In vitro coexpression and pharmacological rescue of mutant gonadotropin-releasing hormone receptors causing hypogonadotropic hypogonadism in humans expressing compound heterozygous alleles.
Leaños-Miranda A et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Molecular genetics of isolated hypogonadotropic hypogonadism and Kallmann syndrome.
Karges B et al.
Endocrine Development, 2005
Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease.
Ulloa-Aguirre A et al.
Traffic (copenhagen, Denmark), 2004
[GnRH deficiency: new insights from genetics].
Kottler ML et al.
Journal De La Societe De Biologie, 2004
Familial gonadotropin-releasing hormone resistance and hypogonadotropic hypogonadism in a family with multiple affected individuals.
Layman LC et al.
Fertility and Sterility, 2001
Molecular evaluation of the gonadotropin-releasing hormone receptor.
Cohen DP
Seminars in Reproductive Medicine, 2000
Genetics of human hypogonadotropic hypogonadism.
Layman LC
American Journal of Medical Genetics, 1999
Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration.
Caron P et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Gonadotropin-releasing hormone receptor gene mutation: a new cause of hereditary hypogonadism and another mutated G-protein-coupled receptor.
Bertherat J
European Journal of Endocrinology, 1998
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.
Layman LC et al.
Nature Genetics, 1998
Mutations of the GnRH receptor gene: a new cause of autosomal-recessive hypogonadotropic hypogonadism.
Kottler ML et al.
Archives of Medical Research, 0
Clinical and molecular genetics of the human GnRH receptor.
Karges B et al.
Human Reproduction Update, 0
Misrouted cell surface GnRH receptors as a disease aetiology for congenital isolated hypogonadotrophic hypogonadism.
Ulloa-Aguirre A et al.
Human Reproduction Update, 0