Associated Papers
Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.
Ibrahim R et al.
Reproductive Biology, 2025
Identification of KISS1R gene mutations in disorders of non-obstructive azoospermia in the northeast population of China.
Geng D et al.
Journal of Clinical Laboratory Analysis, 2020
An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family.
Alzahrani AJ et al.
Case Reports in Pediatrics, 2019
Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study.
Francou B et al.
Human Reproduction (oxford, England), 2016
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families.
Demirbilek H et al.
Clinical Endocrinology, 2015
Molecular biology of the kisspeptin receptor: signaling, function, and mutations.
Bianco SD et al.
Advances in Experimental Medicine and Biology, 2013
G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.
Noel SD et al.
Molecular and Cellular Endocrinology, 2011
A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.
Nimri R et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism.
Teles MG et al.
European Journal of Endocrinology, 2010
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